KSS
MCID: KRN002
MIFTS: 63

Kearns-Sayre Syndrome (KSS)

Categories: Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Kearns-Sayre Syndrome

MalaCards integrated aliases for Kearns-Sayre Syndrome:

Name: Kearns-Sayre Syndrome 57 11 19 19 42 52 58 75 28 53 5 43 14 38 71
Ophthalmoplegia 11 75 28 43 14
Mitochondrial Cytopathy 57 19 5 71
Kss 57 19 42
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 57 19
Chronic Progressive External Ophthalmoplegia with Myopathy 57 19
Oculocraniosomatic Syndrome 57 19
Total Ophthalmoplegia 11 71
Cpeo with Myopathy 57 19
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 19
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication O 19
Ophthalmoplegia, Progressive External, with Ragged-Red Fibers 57
Proximal Tubulopathy, Diabetes Mellitus and Cerebellar Ataxia 19
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 19
Kearns-Sayre Mitochondrial Cytopathy 42
Ophthalmoplegia-Plus Syndrome 57
Ophthalmoplegia Plus Syndrome 19
Cpeo with Ragged-Red Fibers 57
Cpeo with Ragged Red Fibers 19
Mitochondrial Myopathies 71
Oculomotor Paralysis 11

Characteristics:


Inheritance:

Autosomal recessive,Mitochondrial inheritance 58 , Mitochondrial 57

Prevelance:

1-9/100000 (Europe, United Kingdom) 1-9/1000000 (Finland) 58

Age Of Onset:

Adolescent,Adult,Childhood,Infancy 58

Age Of Death:

adolescent,adult,elderly,late childhood,normal life expectancy,young Adult 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
most cases are sporadic
onset before age 20
single mitochondrial dna deletions are found in sporadic kss patients
some pedigrees are consistent with autosomal dominant inheritance
multiple mitochondrial dna deletions are found in autosomal dominant pedigrees


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Kearns-Sayre Syndrome

MedlinePlus Genetics: 42 Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis). Affected individuals also have an eye condition called pigmentary retinopathy, which results from breakdown (degeneration) of the light-sensing tissue at the back of the eye (the retina) that gives it a speckled and streaked appearance. The retinopathy may cause loss of vision. In addition, people with Kearns-Sayre syndrome have at least one of the following signs or symptoms: abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects), problems with coordination and balance that cause unsteadiness while walking (ataxia), or abnormally high levels of protein in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF).People with Kearns-Sayre syndrome may also experience muscle weakness in their limbs, deafness, kidney problems, or a deterioration of cognitive functions (dementia). Affected individuals often have short stature. In addition, diabetes mellitus is occasionally seen in people with Kearns-Sayre syndrome.When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. The abnormal muscle cells contain an excess of structures called mitochondria and are known as ragged-red fibers.A related condition called ophthalmoplegia-plus may be diagnosed if an individual has many of the signs and symptoms of Kearns-Sayre syndrome but not all the criteria are met.

MalaCards based summary: Kearns-Sayre Syndrome, also known as ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and mitochondrial dna depletion syndrome 7, and has symptoms including cerebellar ataxia, seizures and muscle weakness. An important gene associated with Kearns-Sayre Syndrome is MT-TL1 (Mitochondrially Encoded TRNA-Leu (UUA/G) 1), and among its related pathways/superpathways are Metabolism and "Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.". The drugs Dalfampridine and Clemastine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skeletal muscle, and related phenotypes are abnormality of retinal pigmentation and progressive external ophthalmoplegia

NINDS: 52 Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. The mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body. KSS is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS.

GARD: 19 Kearns-Sayre syndrome (KSS) is a neuromuscular disorder defined by the triad of features: onset of symtpoms before age 20 years; pigmentary retinopathy (a "salt-and-pepper" pigmentation in the retina that can affect vision, but often leaves it intact); and progressive external ophthalmoplegia (PEO). In addition, affected individuals have at least one of the following: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia. Kearns-Sayre syndrome is a mitochondrial DNA (mtDNA) deletion syndrome. It results from abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. This and other mitochondrial diseases correlate with specific DNA genetic changes that cause problems with many of the organs and tissues in the body, resulting in multisystem effects.

Orphanet: 58 A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

Wikipedia 75 Kearns-sayre syndrome: Kearns-Sayre syndrome (KSS), oculocraniosomatic disorder or oculocranionsomatic neuromuscular disorder... more...

Ophthalmoplegia: Ophthalmoparesis refers to weakness (-paresis) or paralysis (-plegia) of one or more extraocular muscles... more...

More information from OMIM: 530000

Related Diseases for Kearns-Sayre Syndrome

Diseases related to Kearns-Sayre Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1133, show less)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 32.9 TYMP TWNK SDHB RRM2B POLG2 POLG
2 mitochondrial dna depletion syndrome 7 32.9 TYMP TWNK RRM2B POLG2 POLG
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 32.9 TWNK POLG
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 32.8 TYMP TWNK RRM2B POLG2 POLG
5 pearson marrow-pancreas syndrome 32.8 TWNK POLG MT-TL1 MT-ND6 MT-CYB MT-CO2
6 mitochondrial dna depletion syndrome 1 32.7 TYMP POLG2 POLG
7 mitochondrial complex ii deficiency, nuclear type 1 32.7 SDHD SDHAF1 SDHA
8 mitochondrial complex iii deficiency, nuclear type 2 32.6 TWNK SDHD POLG ATXN7
9 myopathy 32.6 TYMP TWNK SDHB SDHA RRM2B POLG2
10 mitochondrial complex iv deficiency, nuclear type 2 32.6 TYMP SDHB
11 mitochondrial myopathy 32.5 TYMP TWNK SDHB SDHA RRM2B POLG2
12 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.5 TYMP TWNK RRM2B POLG MT-TL1 MT-ND6
13 autosomal dominant progressive external ophthalmoplegia 32.2 TWNK RRM2B POLG2 POLG
14 retinitis pigmentosa 32.1 TWNK SDHB RRM2B POLG MT-TL1 MT-ND6
15 ptosis 32.0 TYMP TWNK RRM2B POLG2 POLG
16 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 31.9 TYMP TWNK RRM2B POLG2 POLG MT-TL1
17 mitochondrial disease 31.9 TWNK RRM2B POLG2 POLG MT-TL1 MT-ND6
18 mitochondrial encephalomyopathy 31.6 TYMP TWNK RRM2B POLG MT-TL1 MT-ND6
19 mitochondrial complex iv deficiency, nuclear type 1 31.5 MT-TL1 MT-CO2 COX5A
20 lactic acidosis 31.4 SDHB RRM2B POLG MT-TL1 MT-ND6 MT-ND5
21 neuropathy 31.3 TYMP TWNK POLG MT-ND6 MT-ND5 MT-CYB
22 cerebellar disease 31.3 TWNK POLG ATXN7
23 parkinsonism 31.2 TWNK POLG2 POLG MT-ND6 MT-ND5
24 hereditary optic neuropathy 31.2 MT-ND6 MT-ND5 MT-ATP6
25 peripheral nervous system disease 31.1 TWNK POLG MT-ND6 MT-ATP6 MAG
26 polyneuropathy 31.1 POLG2 POLG MT-ATP6 MAG
27 optic nerve disease 31.1 TWNK POLG MT-TL1 MT-ND6 MT-ND5 MT-CYB
28 myoclonic epilepsy associated with ragged-red fibers 31.0 TWNK SDHB POLG MT-TL1 MT-ND6 MT-ND5
29 ocular motility disease 31.0 TYMP TWNK RRM2B POLG2 POLG MT-ATP6
30 dystonia 30.9 SDHD SDHB SDHAF1 SDHA POLG MT-ND6
31 cranial nerve palsy 30.9 SDHD SDHB
32 camptocormism 30.9 RRM2B POLG
33 polg-related disorders 30.9 TWNK POLG
34 chondroma 30.9 SDHD SDHB SDHA
35 horner's syndrome 30.8 SDHD SDHB
36 mitochondrial dna depletion syndrome 4a 30.8 TYMP TWNK RRM2B POLG2 POLG MT-TL1
37 leber hereditary optic neuropathy, modifier of 30.8 TYMP TWNK SDHA RRM2B POLG2 POLG
38 hereditary ataxia 30.8 TWNK POLG ATXN7
39 hypertrophic cardiomyopathy 30.7 MT-TL1 MT-CYB MT-CO2 MT-ATP8 MT-ATP6
40 early myoclonic encephalopathy 30.7 TWNK SDHB POLG2 POLG MT-TL1 MT-ND6
41 mitochondrial neurogastrointestinal encephalomyopathy 30.6 TYMP RRM2B POLG
42 axonal neuropathy 30.6 TWNK RRM2B POLG2 POLG
43 myoglobinuria 30.6 SDHB MT-CYB COX5A
44 quadriplegia 30.6 SDHD SDHB SDHAF1 SDHA
45 intestinal pseudo-obstruction 30.6 TYMP POLG MT-TL1 ATXN7
46 mitochondrial dna depletion syndrome 4b 30.5 TYMP TWNK RRM2B POLG2 POLG
47 cortical blindness 30.4 POLG MT-TL1 MT-ND6 MT-ND5
48 3-methylglutaconic aciduria, type iii 30.4 TYMP TWNK SDHA RRM2B POLG2 POLG
49 mitochondrial dna depletion syndrome 30.3 TYMP TWNK RRM2B POLG2 POLG MT-TL1
50 leigh syndrome 30.2 TYMP TWNK SDHD SDHB SDHAF1 SDHA
51 hereditary spastic paraplegia 30.2 POLG MT-ATP6 MAG ATXN7
52 spastic quadriplegia 30.1 SDHD SDHB SDHAF1 SDHA
53 spastic ataxia 30.1 TWNK POLG MT-ATP6 ATXN7
54 leber plus disease 29.7 MT-ND6 MT-ND5 MT-CYB MT-ATP6
55 myopathy, proximal, with ophthalmoplegia 11.6
56 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.6
57 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.6
58 minicore myopathy with external ophthalmoplegia 11.6
59 internuclear ophthalmoplegia 11.5
60 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 11.5
61 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.5
62 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 11.5
63 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.5
64 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.5
65 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.5
66 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.4
67 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 11.4
68 fibrosis of extraocular muscles, congenital, 1 11.4
69 tolosa-hunt syndrome 11.4
70 ophthalmoplegia, external, with rib and vertebral anomalies 11.4
71 spinal atrophy ophthalmoplegia pyramidal syndrome 11.4
72 levic stefanovic nikolic syndrome 11.4
73 mitochondrial dna depletion syndrome 11 11.4
74 arthrogryposis, distal, type 5 11.4
75 ivic syndrome 11.3
76 visceral myopathy, familial, with external ophthalmoplegia 11.3
77 arthrogryposis, distal, type 5d 11.3
78 supranuclear palsy, progressive, 1 11.3
79 cerebral atrophy 11.3
80 gaucher disease, type iiic 11.3
81 mitochondrial complex ii deficiency, nuclear type 2 11.3
82 autosomal dominant optic atrophy plus syndrome 11.3
83 canomad syndrome 11.3
84 mitochondrial dna depletion syndrome 8a 11.2
85 ataxia neuropathy spectrum 11.2
86 machado-joseph disease 11.2
87 ophthalmoplegia totalis with ptosis and miosis 11.2
88 congenital fibrosis of the extraocular muscles 11.2
89 exophthalmic ophthalmoplegia 11.1
90 multiminicore disease 11.1
91 gaze palsy, familial horizontal, with progressive scoliosis 1 11.1
92 mitochondrial dna-related progressive external ophthalmoplegia 11.1
93 niemann-pick disease, type c1 11.1
94 macrostomia-preauricular tags-external ophthalmoplegia syndrome 11.1
95 ophthalmoplegia, external, and myopia 11.1
96 christianson syndrome 11.1
97 miller fisher syndrome 11.1
98 mitochondrial dna depletion syndrome 5 11.1
99 ophthalmoplegia, familial static 11.0
100 spinocerebellar ataxia 2 11.0
101 thiamine metabolism dysfunction syndrome 2 11.0
102 total internal ophthalmoplegia 11.0
103 spinocerebellar ataxia 1 11.0
104 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 11.0
105 fibrosis of extraocular muscles, congenital, 2 11.0
106 tukel syndrome 11.0
107 guillain-barre syndrome 11.0
108 hyperuricemia, hprt-related 11.0
109 late-onset retinal degeneration 11.0
110 oculopharyngodistal myopathy 1 10.9
111 spastic paraplegia 7, autosomal recessive 10.9
112 biotin-thiamine-responsive basal ganglia disease 10.9
113 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy 10.9
114 myopathy with extrapyramidal signs 10.9
115 combined oxidative phosphorylation deficiency 33 10.9
116 oculopharyngodistal myopathy 2 10.9
117 combined oxidative phosphorylation deficiency 55 10.9
118 x-linked intellectual disability, schimke type 10.9
119 moebius syndrome 10.9
120 third-degree atrioventricular block 10.9
121 conjugate gaze palsy 10.9
122 ocular muscular dystrophy 10.9
123 ophthalmoplegia, familial total, with iris transillumination 10.9
124 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency 10.9
125 motor neuron disease with dementia and ophthalmoplegia 10.9
126 fibrosis of extraocular muscles, congenital, with synergistic divergence 10.9
127 wernicke encephalopathy 10.9
128 atrioventricular block 10.8
129 optic atrophy 1 10.8
130 congenital fiber-type disproportion 10.8
131 bickerstaff brainstem encephalitis 10.8
132 myopathy, centronuclear, x-linked 10.8
133 mitochondrial dna depletion syndrome 2 10.8
134 myoclonic epilepsy myopathy sensory ataxia 10.8
135 visceral myopathy 1 10.8
136 abetalipoproteinemia 10.8
137 myasthenic syndrome, congenital, 6, presynaptic 10.8
138 muscular dystrophy, congenital merosin-deficient, 1a 10.8
139 gaucher's disease 10.8
140 congenital oculomotor nerve palsy 10.8
141 retinitis 10.8
142 spinocerebellar ataxia 29 10.8
143 myopathy, tubular aggregate, 1 10.8
144 ptosis, hereditary congenital 1 10.8
145 adducted thumbs syndrome 10.8
146 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth 10.8
147 myasthenic syndrome, congenital, 10 10.8
148 myopathy, centronuclear, 2 10.8
149 wernicke-korsakoff syndrome 10.8
150 mitochondrial myopathy, lethal, infantile 10.8
151 myasthenic syndrome, congenital, 1a, slow-channel 10.8
152 myasthenic syndrome, congenital, 5 10.8
153 spinocerebellar ataxia 10 10.8
154 myasthenic syndrome, congenital, 4a, slow-channel 10.8
155 myasthenic syndrome, congenital, 1b, fast-channel 10.8
156 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.8
157 combined oxidative phosphorylation deficiency 7 10.8
158 wolfram-like syndrome, autosomal dominant 10.8
159 spastic paraplegia 55, autosomal recessive 10.8
160 combined oxidative phosphorylation deficiency 20 10.8
161 nemaline myopathy 10 10.8
162 fibrosis of extraocular muscles, congenital, 5 10.8
163 myasthenic syndrome, congenital, 17 10.8
164 myasthenic syndrome, congenital, 2a, slow-channel 10.8
165 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.8
166 myasthenic syndrome, congenital, 3a, slow-channel 10.8
167 myasthenic syndrome, congenital, 3b, fast-channel 10.8
168 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 10.8
169 myasthenic syndrome, congenital, 4b, fast-channel 10.8
170 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 10.8
171 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 10.8
172 myasthenic syndrome, congenital, 18 10.8
173 myasthenic syndrome, congenital, 19 10.8
174 myasthenic syndrome, congenital, 21, presynaptic 10.8
175 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 10.8
176 combined oxidative phosphorylation deficiency 48 10.8
177 oculopharyngodistal myopathy 3 10.8
178 oculopharyngodistal myopathy 4 10.8
179 mitochondrial oxidative phosphorylation disorder due to nuclear dna anomalies 10.8
180 mitochondrial dna-related mitochondrial myopathy 10.8
181 machado-joseph disease type 2 10.8
182 pharyngeal-cervical-brachial variant of guillain-barre syndrome 10.8
183 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome 10.8
184 idiopathic optic perineuritis 10.8
185 progressive familial heart block, type ia 10.7
186 progressive familial heart block, type ib 10.7
187 aceruloplasminemia 10.7
188 progressive familial heart block 10.7
189 hypoparathyroidism 10.7
190 peripheral retinal degeneration 10.7
191 retinal degeneration 10.7
192 cardiac conduction defect 10.6
193 sensorineural hearing loss 10.6
194 right bundle branch block 10.6
195 syncope 10.6
196 neuromuscular disease 10.6
197 herpes zoster oticus 10.6
198 dilated cardiomyopathy 10.6
199 congenital nystagmus 1 10.5 MT-ND6 MT-CYB MT-CO2
200 mitochondrial myopathy, infantile, transient 10.5 MT-ND5 MT-CYB MT-ATP6
201 myiasis 10.5 MT-ND5 MT-CYB MT-CO2
202 dicrocoeliasis 10.5 MT-ND5 MT-CYB MT-ATP6
203 periodic paralysis with later-onset distal motor neuropathy 10.5 MT-ATP8 MT-ATP6
204 fasciolopsiasis 10.5 MT-ND6 MT-ATP6
205 neural crest tumor 10.5 SDHD SDHB SDHA
206 coenurosis 10.5 MT-ND5 MT-CYB
207 thelaziasis 10.5 MT-TY MT-ND6
208 mitochondrial dna-associated leigh syndrome 10.5 MT-TL1 MT-ND6 MT-ND5 MT-ATP6
209 gastric leiomyosarcoma 10.5 SDHD SDHB SDHA
210 sparganosis 10.5 MT-TY MT-ND5 MT-CYB MT-ATP6
211 extra-adrenal pheochromocytoma 10.5 SDHD SDHB SDHA
212 sporadic pheochromocytoma/secreting paraganglioma 10.5 SDHD SDHB
213 scrotum melanoma 10.5 SDHD SDHA
214 paragangliomas 1 10.5 SDHD SDHB SDHA
215 carney triad 10.5 SDHD SDHB SDHA
216 gastric liposarcoma 10.5 SDHD SDHB SDHA
217 baylisascariasis 10.5 MT-CO2 MT-ATP6
218 leiomyoma cutis 10.5 SDHD SDHB SDHA
219 cardiomyopathy, infantile histiocytoid 10.5 MT-CYB MT-ATP8 MT-ATP6
220 dermis tumor 10.5 SDHD SDHB SDHA
221 parathyroid oncocytic adenoma 10.5 MT-ND6 MT-CYB
222 renal oncocytoma 10.5 SDHD SDHB MT-ND5
223 mitochondrial complex iv deficiency, nuclear type 5 10.5 MT-ND6 MT-CYB MT-ATP8 MT-ATP6
224 foster-kennedy syndrome 10.5 SDHD SDHA
225 cardiomyopathy, infantile hypertrophic 10.5 MT-ND6 MT-ATP8 MT-ATP6
226 cerebral angioma 10.5 SDHD SDHB SDHA
227 myotonic cataract 10.5 TWNK POLG
228 acanthocephaliasis 10.5 MT-TY MT-ATP8
229 adrenal medulla cancer 10.5 SDHD SDHB SDHA
230 malignant pheochromocytoma 10.5 SDHD SDHB SDHA
231 carotid body cancer 10.5 SDHD SDHB
232 isolated atp synthase deficiency 10.5 MT-ATP8 MT-ATP6
233 isolated cytochrome c oxidase deficiency 10.5 MT-CO2 COX5A
234 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 10.5 TYMP SDHAF1 MT-ATP6 COX5A
235 hereditary paraganglioma-pheochromocytoma syndromes 10.5 SDHD SDHB SDHA
236 persistent generalized lymphadenopathy 10.5 SDHD SDHB SDHAF1 SDHA
237 fumarase deficiency 10.5 SDHD SDHB SDHAF1 SDHA
238 neonatal period electroclinical syndrome 10.5 POLG MT-TL1 MT-ND6 MT-ATP6
239 paraganglioma and gastric stromal sarcoma 10.5 SDHD SDHB SDHA
240 paraganglioma 10.5 SDHD SDHB SDHA MT-CYB
241 toxic optic neuropathy 10.5 POLG2 MT-ND6
242 bile acid synthesis defect, congenital, 1 10.5 TWNK MT-ND5
243 3-methylglutaconic aciduria 10.5 TWNK POLG MT-ATP8 MT-ATP6
244 cercarial dermatitis 10.5 MT-ND5 MT-ATP8
245 multiple endocrine neoplasia, type iia 10.5 SDHD SDHB SDHA
246 mitochondrial complex ii deficiency 10.5 SDHD SDHB SDHAF1 SDHA
247 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 10.5 MT-ND5 MT-ATP8
248 gnathomiasis 10.5 MT-TY MT-ATP8
249 lymph node disease 10.5 SDHD SDHB SDHA
250 cone-rod dystrophy 2 10.5
251 type 1 diabetes mellitus 10.5
252 congestive heart failure 10.5
253 parkinson disease 6, autosomal recessive early-onset 10.5 MT-ND6 MT-ND5
254 familial colorectal cancer 10.5 MT-CYB MT-CO2
255 cranial nerve disease 10.5 TWNK POLG MT-ND6 MT-ND5 MT-CYB MT-ATP6
256 acute liver failure 10.5 POLG2 POLG
257 myopathy, lactic acidosis, and sideroblastic anemia 1 10.5 RRM2B MT-ATP6
258 endocrine organ benign neoplasm 10.5 SDHD SDHB SDHA
259 spastic paraplegia 38, autosomal dominant 10.4 SDHB SDHA
260 gastrointestinal stromal tumor 10.4 SDHD SDHB SDHAF1 SDHA
261 exotropia 10.4
262 myopathy, lactic acidosis, and sideroblastic anemia 3 10.4 SDHA MT-ATP6
263 mitochondrial dna depletion syndrome 6 10.4 TYMP TWNK RRM2B POLG2 POLG
264 mitochondrial complex i deficiency, nuclear type 16 10.4 MT-ND6 MT-ATP6
265 neurofibromatosis, type i 10.4 SDHD SDHB SDHA
266 ocular motor apraxia 10.4
267 fanconi syndrome 10.4
268 corneal edema 10.4
269 conn's syndrome 10.4
270 hypothyroidism 10.4
271 leber optic atrophy and dystonia 10.4 MT-ND6 MT-ND5
272 von hippel-lindau syndrome 10.4 SDHD SDHB SDHA
273 hereditary renal cell carcinoma 10.4 SDHD SDHB
274 neuropathy, ataxia, and retinitis pigmentosa 10.4 TWNK POLG MT-TL1 MT-ND6 MT-CYB MT-ATP8
275 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities 10.4 MT-CYB MT-ATP8
276 orbital disease 10.4
277 taeniasis 10.4 MT-ND5 MT-CYB
278 mitochondrial complex i deficiency, nuclear type 1 10.4 SDHA POLG2 POLG MT-ND6 MT-CYB MT-ATP8
279 perrault syndrome 10.4 TWNK POLG2 POLG
280 herpes zoster 10.4
281 mitochondrial metabolism disease 10.4 TWNK SDHA RRM2B POLG2 POLG MT-ND6
282 orthostatic intolerance 10.4
283 intraocular pressure quantitative trait locus 10.4
284 mitochondrial dna deletion syndromes 10.4
285 growth hormone deficiency 10.4
286 encephalopathy 10.4
287 guillain-barre syndrome, familial 10.4
288 visual cortex disease 10.4 POLG MT-TL1
289 cowden syndrome 10.4 SDHD SDHB SDHA
290 autonomic nervous system benign neoplasm 10.4 SDHD SDHB
291 peripheral nervous system benign neoplasm 10.4 SDHD SDHB
292 cystic echinococcosis 10.4 MT-ND5 MT-ATP6
293 migraine with or without aura 1 10.3
294 hypoadrenocorticism, familial 10.3
295 choroideremia 10.3
296 stroke, ischemic 10.3
297 neurodegeneration due to cerebral folate transport deficiency 10.3
298 deficiency anemia 10.3
299 basal ganglia calcification 10.3
300 left bundle branch hemiblock 10.3
301 leukodystrophy 10.3
302 renal tubular acidosis 10.3
303 movement disease 10.3
304 fundus dystrophy 10.3
305 inherited retinal disorder 10.3
306 renal tubulopathy, diabetes mellitus, and cerebellar ataxia 10.3
307 visual pathway disease 10.3 POLG MT-TL1
308 temporal arteritis 10.3
309 focal segmental glomerulosclerosis 10.3
310 infantile cerebellar-retinal degeneration 10.3 SDHAF1 SDHA
311 bell's palsy 10.3
312 herpes zoster ophthalmicus 10.3
313 abducens palsy 10.3
314 leukodystrophy, hypomyelinating, 5 10.3 SDHAF1 MAG
315 headache 10.3
316 glaucoma, primary open angle 10.2
317 hashimoto thyroiditis 10.2
318 choroidal dystrophy, central areolar, 1 10.2
319 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
320 diabetes and deafness, maternally inherited 10.2
321 ventricular fibrillation, paroxysmal familial, 1 10.2
322 glaucoma, normal tension 10.2
323 spastic paraplegia, ataxia, and mental retardation 10.2
324 premature ovarian failure 7 10.2
325 non-alcoholic fatty liver disease 10.2
326 open-angle glaucoma 10.2
327 respiratory failure 10.2
328 myopia 10.2
329 optic neuritis 10.2
330 lagophthalmos 10.2
331 diamond-blackfan anemia 10.2
332 amenorrhea 10.2
333 neuritis 10.2
334 hypogonadism 10.2
335 corneal dystrophy 10.2
336 long qt syndrome 10.2
337 hyperglycemia 10.2
338 bartter disease 10.2
339 prion disease 10.2
340 thyroiditis 10.2
341 sideroblastic anemia 10.2
342 muscular dystrophy 10.2
343 children's interstitial lung disease 10.2
344 hashimoto encephalopathy 10.2
345 facial paralysis 10.2
346 meningitis 10.2
347 brain stem infarction 10.2
348 chickenpox 10.2
349 dissociated nystagmus 10.2
350 vascular disease 10.2
351 systemic lupus erythematosus 10.1
352 sarcoidosis 1 10.1
353 sarcoidosis 2 10.1
354 intracranial hypertension 10.1
355 encephalitis 10.1
356 pituitary tumors 10.1
357 inherited cancer-predisposing syndrome 10.1 SDHD SDHB SDHA
358 anisocoria 10.1
359 hemifacial hyperplasia 10.1
360 fundus albipunctatus 10.1
361 hypercalcemia, infantile, 1 10.1
362 keratitis, hereditary 10.1
363 myositis 10.1
364 myotonic dystrophy 1 10.1
365 night blindness, congenital stationary, autosomal dominant 2 10.1
366 oculopharyngeal muscular dystrophy 10.1
367 spinocerebellar ataxia 7 10.1
368 pernicious anemia 10.1
369 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
370 renal tubular acidosis, proximal 10.1
371 roussy-levy hereditary areflexic dystasia 10.1
372 strabismus 10.1
373 cardiomyopathy, familial hypertrophic, 1 10.1
374 alpha-aminoadipic and alpha-ketoadipic aciduria 10.1
375 corneal endothelial dystrophy 10.1
376 glaucoma 3, primary congenital, a 10.1
377 papillon-lefevre syndrome 10.1
378 myasthenia gravis 10.1
379 pyle disease 10.1
380 insulin-like growth factor i 10.1
381 canavan disease 10.1
382 hypomelanosis of ito 10.1
383 retinoschisis 1, x-linked, juvenile 10.1
384 macular dystrophy, vitelliform, 3 10.1
385 esophagitis, eosinophilic, 1 10.1
386 diabetes mellitus, ketosis-prone 10.1
387 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.1
388 muscle hypertrophy 10.1
389 hereditary sensory neuropathy 10.1
390 vitelliform macular dystrophy 10.1
391 fetal alcohol syndrome 10.1
392 coenzyme q10 deficiency disease 10.1
393 metabolic acidosis 10.1
394 first-degree atrioventricular block 10.1
395 sinoatrial node disease 10.1
396 pain agnosia 10.1
397 organic acidemia 10.1
398 crest syndrome 10.1
399 scoliosis 10.1
400 cardiac arrest 10.1
401 spinal disease 10.1
402 cerebellar hypoplasia 10.1
403 metaphyseal dysplasia 10.1
404 hypogonadotropic hypogonadism 10.1
405 keratoconus 10.1
406 pre-eclampsia 10.1
407 charcot-marie-tooth disease 10.1
408 glucose intolerance 10.1
409 tooth disease 10.1
410 hemiplegia 10.1
411 anhidrosis 10.1
412 disseminated intravascular coagulation 10.1
413 mitral valve insufficiency 10.1
414 fuchs' endothelial dystrophy 10.1
415 esophagitis 10.1
416 nephrocalcinosis 10.1
417 gout 10.1
418 sick sinus syndrome 10.1
419 autoimmune polyendocrine syndrome 10.1
420 autosomal dominant cerebellar ataxia 10.1
421 limited scleroderma 10.1
422 keratopathy 10.1
423 central nervous system origin vertigo 10.1
424 sensory peripheral neuropathy 10.1
425 eosinophilic gastroenteritis 10.1
426 heart valve disease 10.1
427 radiculopathy 10.1
428 hypokalemia 10.1
429 somatoform disorder 10.1
430 conjunctivitis 10.1
431 macular holes 10.1
432 muscular atrophy 10.1
433 chronic kidney disease 10.1
434 cataract 10.1
435 viral infectious disease 10.1
436 exophthalmos 10.1
437 hypopituitarism 10.1
438 exposure keratitis 10.1
439 episodic ataxia 10.1
440 rrm2b mitochondrial dna maintenance defects 10.1
441 x-linked congenital retinoschisis 10.1
442 cytokine deficiency 10.1
443 idiopathic hypersomnia 10.1
444 juvenile retinoschisis 10.1
445 myoclonus epilepsy 10.1
446 pectus carinatum 10.1
447 perniosis 10.1
448 autoimmune addison disease 10.1
449 hereditary neuropathies 10.1
450 hypersomnia 10.1
451 myoclonus 10.1
452 paresthesia 10.1
453 tremor 10.1
454 muscular lipidosis 10.1
455 lysosomal disease 10.1
456 cardiogenic shock 10.1
457 refractory anemia 10.1
458 polyendocrinopathy 10.1
459 amyotrophic lateral sclerosis 1 10.1
460 systemic lupus erythematosus 1 10.1
461 vasculitis 10.1
462 lipomatosis, multiple symmetric 10.1
463 pyruvate dehydrogenase e1-alpha deficiency 10.1
464 alacrima, achalasia, and mental retardation syndrome 10.1
465 hypophosphatemia 10.1
466 familial hyperlipidemia 10.1
467 limb-girdle muscular dystrophy 10.1
468 nephrotic syndrome 10.1
469 cholestasis 10.1
470 lipomatosis 10.1
471 liver disease 10.1
472 hypoglycemia 10.1
473 hypotonia 10.1
474 batten-turner congenital myopathy 10.1
475 hydrocephalus 10.1
476 graves' disease 10.1
477 papilledema 10.1
478 lateral sclerosis 10.1
479 orbital plasma cell granuloma 10.1
480 classic progressive supranuclear palsy syndrome 10.1
481 aspergillosis 10.0
482 polyradiculoneuropathy 10.0
483 lupus erythematosus 10.0
484 oculomotor nerve paralysis 10.0
485 multiple sclerosis 10.0
486 chiari malformation type ii 10.0
487 intracranial hypertension, idiopathic 10.0
488 meningioma, familial 10.0
489 sphenoid sinusitis 10.0
490 fourth cranial nerve palsy 10.0
491 pituitary apoplexy 10.0
492 central retinal artery occlusion 10.0
493 uveitis 10.0
494 multiple cranial nerve palsy 10.0
495 demyelinating disease 10.0
496 pituitary adenoma 10.0
497 chronic inflammatory demyelinating polyradiculoneuropathy 10.0
498 b-cell lymphoma 10.0
499 retinal artery occlusion 10.0
500 mucormycosis 10.0
501 amyloidosis 10.0
502 burkitt lymphoma 10.0
503 glioma susceptibility 1 10.0
504 pick disease of brain 10.0
505 sjogren syndrome 10.0
506 microvascular complications of diabetes 5 10.0
507 exanthem 10.0
508 cryptococcal meningitis 10.0
509 dermatomyositis 10.0
510 niemann-pick disease 10.0
511 myelitis 10.0
512 congenital myasthenic syndrome 10.0
513 actinomycosis 10.0
514 neuromyelitis optica 10.0
515 esotropia 10.0
516 chiari malformation 10.0
517 tuberculous meningitis 10.0
518 atrial standstill 1 9.9
519 fanconi renotubular syndrome 1 9.9
520 multiple system atrophy 1 9.9
521 macular degeneration, age-related, 2 9.9
522 myotonia congenita, autosomal dominant 9.9
523 hypokalemic periodic paralysis, type 1 9.9
524 acyl-coa dehydrogenase, medium-chain, deficiency of 9.9
525 anus, imperforate 9.9
526 multiple acyl-coa dehydrogenase deficiency 9.9
527 laurence-moon syndrome 9.9
528 3-methylglutaconic aciduria, type i 9.9
529 neurodegeneration with brain iron accumulation 2a 9.9
530 graves disease 1 9.9
531 wilson disease 9.9
532 cyclic vomiting syndrome 9.9
533 codas syndrome 9.9
534 preaxial hallucal polydactyly 9.9
535 macular degeneration, age-related, 1 9.9
536 abdominal obesity-metabolic syndrome 1 9.9
537 phelan-mcdermid syndrome 9.9
538 dravet syndrome 9.9
539 aplastic anemia 9.9
540 pyruvate dehydrogenase e1-beta deficiency 9.9
541 myelodysplastic syndrome 9.9
542 alternating hemiplegia of childhood 9.9
543 colitis 9.9
544 familial periodic paralysis 9.9
545 amblyopia 9.9
546 henoch-schoenlein purpura 9.9
547 primary hyperparathyroidism 9.9
548 autonomic nervous system disease 9.9
549 allergic disease 9.9
550 pancytopenia 9.9
551 secondary hyperparathyroidism 9.9
552 choreatic disease 9.9
553 hyperparathyroidism 9.9
554 reye syndrome 9.9
555 ventricular septal defect 9.9
556 heart septal defect 9.9
557 ichthyosis 9.9
558 status epilepticus 9.9
559 cerebral palsy 9.9
560 hepatitis b 9.9
561 acute pancreatitis 9.9
562 acute myocarditis 9.9
563 pancreatitis 9.9
564 fibromyalgia 9.9
565 adenoma 9.9
566 end stage renal disease 9.9
567 hyperthyroidism 9.9
568 myocarditis 9.9
569 pathologic nystagmus 9.9
570 medium-chain acyl-coenzyme a dehydrogenase deficiency 9.9
571 primary pyruvate dehydrogenase complex deficiency 9.9
572 aminoaciduria 9.9
573 hypoaldosteronism 9.9
574 spasticity 9.9
575 periodic paralysis 9.9
576 acyl-coa dehydrogenase deficiency 9.9
577 myoclonic epilepsy of infancy 9.9
578 myeloma, multiple 9.9
579 nonarteritic anterior ischemic optic neuropathy 9.9
580 microvascular complications of diabetes 1 9.9
581 distal arthrogryposis 9.9
582 arteriovenous malformation 9.9
583 alternating exotropia 9.9
584 lyme disease 9.9
585 cryptococcosis 9.9
586 spinal muscular atrophy 9.9
587 pseudobulbar palsy 9.9
588 neurosarcoidosis 9.9
589 anterior uveitis 9.9
590 acute retrobulbar neuritis 9.9
591 larynx cancer 9.9
592 nemaline myopathy 9.9
593 cellulitis 9.9
594 thrombophlebitis 9.9
595 whipple disease 9.9
596 malignant hyperthermia 9.9
597 hypertropia 9.9
598 spondylolisthesis 9.9
599 alcohol sensitivity, acute 9.9
600 psychotic disorder 9.9
601 neuropathy, hereditary, with liability to pressure palsies 9.9
602 polycythemia vera 9.9
603 bare lymphocyte syndrome, type i 9.9
604 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.9
605 blood group, cromer system 9.9
606 cold-induced sweating syndrome 9.9
607 dengue disease 9.9
608 endocrine exophthalmos 9.9
609 abnormal retinal correspondence 9.9
610 pineoblastoma 9.9
611 motor peripheral neuropathy 9.9
612 central nervous system lymphoma 9.9
613 bacterial meningitis 9.9
614 neurofibroma 9.9
615 charcot-marie-tooth hereditary neuropathy 9.9
616 ocular neuromyotonia 9.9
617 primary central nervous system lymphoma 9.9
618 parkinson-dementia syndrome 9.9
619 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 9.9
620 progressive supranuclear palsy-corticobasal syndrome 9.9
621 progressive supranuclear palsy-pure akinesia with gait freezing syndrome 9.9
622 adie pupil 9.9
623 autoimmune disease 9.9
624 breast cancer 9.9
625 duane retraction syndrome 1 9.9
626 huntington disease 9.9
627 hypercholesterolemia, familial, 1 9.9
628 inclusion body myositis 9.9
629 lipomatosis, multiple 9.9
630 parkinson disease, late-onset 9.9
631 thrombophilia due to thrombin defect 9.9
632 immune deficiency disease 9.9
633 maple syrup urine disease 9.9
634 spinal muscular atrophy, type i 9.9
635 ceroid lipofuscinosis, neuronal, 5 9.9
636 polydactyly 9.9
637 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.9
638 invasive aspergillosis 9.9
639 foodborne botulism 9.9
640 diffuse large b-cell lymphoma 9.9
641 congenital ptosis 9.9
642 thrombosis 9.9
643 common cold 9.9
644 enophthalmos 9.9
645 orbital cellulitis 9.9
646 typhoid fever 9.9
647 angioedema 9.9
648 alcohol use disorder 9.9
649 squamous cell carcinoma 9.9
650 epilepsy 9.9
651 melanoma 9.9
652 motor neuron disease 9.9
653 acromegaly 9.9
654 laryngeal benign neoplasm 9.9
655 poliomyelitis 9.9
656 demyelinating polyneuropathy 9.9
657 acquired immunodeficiency syndrome 9.9
658 carotid artery occlusion 9.9
659 cocaine abuse 9.9
660 carotid artery dissection 9.9
661 diabetes mellitus 9.9
662 polyarteritis nodosa 9.9
663 myotonia 9.9
664 non-histaminic angioedema 9.9
665 pfeiffer syndrome 9.8
666 central core disease of muscle 9.8
667 dilution, pigmentary 9.8
668 dementia, lewy body 9.8
669 hypertriglyceridemia 1 9.8
670 neutrophilia, hereditary 9.8
671 craniofacial microsomia 9.8
672 otitis media 9.8
673 polycystic liver disease 1 with or without kidney cysts 9.8
674 prostate cancer 9.8
675 aplasia of lacrimal and salivary glands 9.8
676 stiff-person syndrome 9.8
677 torticollis 9.8
678 hemangiopericytoma, malignant 9.8
679 lymphoma, hodgkin, classic 9.8
680 marinesco-sjogren syndrome 9.8
681 melanosis, neurocutaneous 9.8
682 spinal muscular atrophy, type iii 9.8
683 inflammatory bowel disease 1 9.8
684 tay-sachs disease 9.8
685 spondylocostal dysostosis 1, autosomal recessive 9.8
686 sickle cell anemia 9.8
687 lymphoma, non-hodgkin, familial 9.8
688 glycine encephalopathy 9.8
689 nasopharyngeal carcinoma 9.8
690 legionnaire disease 9.8
691 human immunodeficiency virus type 1 9.8
692 microvascular complications of diabetes 2 9.8
693 hemorrhage, intracerebral 9.8
694 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 9.8
695 disease by infectious agent 9.8
696 powassan encephalitis 9.8
697 lambert-eaton myasthenic syndrome 9.8
698 apraxia 9.8
699 miyoshi muscular dystrophy 9.8
700 fibrous dysplasia 9.8
701 transverse myelitis 9.8
702 intracranial meningioma 9.8
703 immunoglobulin light chain amyloidosis 9.8
704 central diabetes insipidus 9.8
705 graves ophthalmopathy 9.8
706 cysticercosis 9.8
707 intracranial abscess 9.8
708 legionellosis 9.8
709 paralytic squint 9.8
710 microcephaly 9.8
711 keratomalacia 9.8
712 prediabetes syndrome 9.8
713 ischemic neuropathy 9.8
714 aseptic meningitis 9.8
715 primary biliary cholangitis 9.8
716 scleritis 9.8
717 posterior scleritis 9.8
718 beriberi 9.8
719 centronuclear myopathy 9.8
720 facial hemiatrophy 9.8
721 impotence 9.8
722 relapsing-remitting multiple sclerosis 9.8
723 epidermolysis bullosa 9.8
724 scleredema adultorum 9.8
725 skin squamous cell carcinoma 9.8
726 progressive muscular atrophy 9.8
727 spinal cord disease 9.8
728 liposarcoma 9.8
729 cavernous sinus thrombosis 9.8
730 olfactory neuroblastoma 9.8
731 gastric adenocarcinoma 9.8
732 plasmacytoma 9.8
733 chromophobe adenoma 9.8
734 syphilis 9.8
735 mutism 9.8
736 epidermolysis bullosa simplex 9.8
737 brain edema 9.8
738 central nervous system vasculitis 9.8
739 sleep disorder 9.8
740 eye disease 9.8
741 paraplegia 9.8
742 cerebrovascular disease 9.8
743 measles 9.8
744 crohn's disease 9.8
745 diabetes insipidus 9.8
746 diabetic neuropathy 9.8
747 hypotropia 9.8
748 cluster headache 9.8
749 congenital contractures 9.8
750 eales disease 9.8
751 glioma 9.8
752 hypothalamic obesity 9.8
753 idiopathic hypertrophic pachymeningitis 9.8
754 primary agammaglobulinemia 9.8
755 wallerian degeneration 9.8
756 thyrotoxic myopathy 9.8
757 posttransplant acute limbic encephalitis 9.8
758 glial tumor 9.8
759 juvenile myasthenia gravis 9.8
760 intravascular large b-cell lymphoma 9.8
761 neurofibromatosis, type ii 9.6
762 alcohol dependence 9.6
763 alzheimer disease, familial, 1 9.6
764 arteries, anomalies of 9.6
765 arthrogryposis, distal, type 1a 9.6
766 basal cell nevus syndrome 9.6
767 behcet syndrome 9.6
768 arthrogryposis, distal, type 3 9.6
769 creutzfeldt-jakob disease 9.6
770 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.6
771 major affective disorder 1 9.6
772 type 2 diabetes mellitus 9.6
773 hyperglycinuria 9.6
774 hemifacial atrophy, progressive 9.6
775 holt-oram syndrome 9.6
776 renal cell carcinoma, nonpapillary 9.6
777 hyperostosis frontalis interna 9.6
778 lacrimoauriculodentodigital syndrome 9.6
779 macular dystrophy, dominant cystoid 9.6
780 marcus gunn phenomenon 9.6
781 medulloblastoma 9.6
782 intellectual developmental disorder, autosomal dominant 1 9.6
783 paget disease of bone 3 9.6
784 pectus excavatum 9.6
785 polydactyly, postaxial, type a1 9.6
786 mccune-albright syndrome 9.6
787 interstitial lung disease 2 9.6
788 dowling-degos disease 1 9.6
789 retinal detachment 9.6
790 septooptic dysplasia 9.6
791 chromosome 2q35 duplication syndrome 9.6
792 trigeminal neuralgia 9.6
793 tuberous sclerosis 1 9.6
794 suppressor of tumorigenicity 3 9.6
795 vitiligo-associated multiple autoimmune disease susceptibility 6 9.6
796 wolff-parkinson-white syndrome 9.6
797 acyl-coa dehydrogenase, short-chain, deficiency of 9.6
798 takayasu arteritis 9.6
799 arachnoid cysts, intracranial 9.6
800 bardet-biedl syndrome 1 9.6
801 celiac disease 1 9.6
802 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 9.6
803 corpus callosum, agenesis of 9.6
804 cryptorchidism, unilateral or bilateral 9.6
805 epidermolysis bullosa simplex 5b, with muscular dystrophy 9.6
806 friedreich ataxia 9.6
807 gaucher disease, type i 9.6
808 mowat-wilson syndrome 9.6
809 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.6
810 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.6
811 muscular dystrophy-dystroglycanopathy , type a, 1 9.6
812 lambert syndrome 9.6
813 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 9.6
814 mitochondrial dna depletion syndrome 3 9.6
815 mitochondrial myopathy with lactic acidosis 9.6
816 moyamoya disease 1 9.6
817 muscular dystrophy-dystroglycanopathy , type a, 4 9.6
818 mycosis fungoides 9.6
819 myopathy, congenital, with fiber-type disproportion 9.6
820 myxedema 9.6
821 niemann-pick disease, type a 9.6
822 ophthalmoplegic neuromuscular disorder with abnormal mitochondria 9.6
823 pancreatic cancer 9.6
824 pituitary hormone deficiency, combined, 2 9.6
825 pseudoxanthoma elasticum 9.6
826 schizencephaly 9.6
827 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation 9.6
828 orofaciodigital syndrome vi 9.6
829 androgen insensitivity syndrome 9.6
830 intellectual developmental disorder, x-linked, syndromic, christianson type 9.6
831 body mass index quantitative trait locus 11 9.6
832 multiple congenital anomalies-neurodevelopmental syndrome, x-linked 9.6
833 fabry disease 9.6
834 aicardi syndrome 9.6
835 ichthyosis, x-linked 9.6
836 major affective disorder 2 9.6
837 schimke x-linked mental retardation syndrome 9.6
838 aging 9.6
839 parkinson disease 2, autosomal recessive juvenile 9.6
840 frontotemporal dementia 9.6
841 carnitine palmitoyltransferase ii deficiency, infantile 9.6
842 fanconi anemia, complementation group e 9.6
843 leukemia, acute myeloid 9.6
844 rigid spine muscular dystrophy 1 9.6
845 leber congenital amaurosis 4 9.6
846 muscular dystrophy, congenital, 1b 9.6
847 nonaka myopathy 9.6
848 pars planitis 9.6
849 vitiligo-associated multiple autoimmune disease susceptibility 1 9.6
850 duane-radial ray syndrome 9.6
851 niemann-pick disease, type b 9.6
852 parathyroid carcinoma 9.6
853 major depressive disorder 9.6
854 granulomatosis with polyangiitis 9.6
855 west nile virus 9.6
856 malaria 9.6
857 major affective disorder 4 9.6
858 major affective disorder 5 9.6
859 major affective disorder 6 9.6
860 major affective disorder 8 9.6
861 major affective disorder 7 9.6
862 major affective disorder 9 9.6
863 lung cancer susceptibility 3 9.6
864 porphyria, acute hepatic 9.6
865 leukemia, acute lymphoblastic 9.6
866 muscular dystrophy, congenital, lmna-related 9.6
867 tuberous sclerosis 2 9.6
868 fatty liver disease, nonalcoholic 1 9.6
869 myxoid liposarcoma 9.6
870 macrostomia, isolated 9.6
871 gastric cancer 9.6
872 mammary-digital-nail syndrome 9.6
873 chromosome 13q14 deletion syndrome 9.6
874 pseudohypoaldosteronism, type iie 9.6
875 membranous nephropathy 9.6
876 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.6
877 cholangiocarcinoma 9.6
878 xia-gibbs syndrome 9.6
879 bardet-biedl syndrome 2 9.6
880 bardet-biedl syndrome 10 9.6
881 bardet-biedl syndrome 11 9.6
882 bardet-biedl syndrome 12 9.6
883 cardiac conduction disease with or without dilated cardiomyopathy 9.6
884 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.6
885 helix syndrome 9.6
886 phenytoin toxicity 9.6
887 hypopigmentation, organomegaly, and delayed myelination and development 9.6
888 chikungunya 9.6
889 african tick-bite fever 9.6
890 restless legs syndrome 9.6
891 epidemic typhus 9.6
892 meningovascular neurosyphilis 9.6
893 walker-warburg syndrome 9.6
894 tooth agenesis 9.6
895 small cell carcinoma 9.6
896 anaplastic large cell lymphoma 9.6
897 mantle cell lymphoma 9.6
898 marginal zone b-cell lymphoma 9.6
899 peripheral t-cell lymphoma 9.6
900 cervical dystonia 9.6
901 follicular lymphoma 9.6
902 breast lobular carcinoma 9.6
903 infective endocarditis 9.6
904 aphasia 9.6
905 lymphoma 9.6
906 osteoblastoma 9.6
907 childhood spinal muscular atrophy 9.6
908 stuttering 9.6
909 pontocerebellar hypoplasia 9.6
910 myelomeningocele 9.6
911 congenital central hypoventilation syndrome 9.6
912 waldenstroem's macroglobulinemia 9.6
913 muscular disease 9.6
914 bone disease 9.6
915 igg4-related disease 9.6
916 polymyositis 9.6
917 diffuse gastric cancer 9.6
918 histiocytic sarcoma 9.6
919 polymicrogyria 9.6
920 migraine with aura 9.6
921 cycloplegia 9.6
922 syphilitic meningitis 9.6
923 xerophthalmia 9.6
924 osteomyelitis 9.6
925 endocarditis 9.6
926 chronic leukemia 9.6
927 tonsillitis 9.6
928 meningoencephalitis 9.6
929 wolfram syndrome 9.6
930 premature menopause 9.6
931 frontal sinusitis 9.6
932 partial third-nerve palsy 9.6
933 amnestic disorder 9.6
934 cholecystolithiasis 9.6
935 pertussis 9.6
936 ornithosis 9.6
937 lemierre's syndrome 9.6
938 tetanus 9.6
939 adult respiratory distress syndrome 9.6
940 diphtheria 9.6
941 corneal abscess 9.6
942 listeriosis 9.6
943 fungal meningitis 9.6
944 blind hypotensive eye 9.6
945 visual epilepsy 9.6
946 abnormal threshold of rods 9.6
947 atrophy of testis 9.6
948 neurogenic bladder 9.6
949 lymphocytic choriomeningitis 9.6
950 arachnoiditis 9.6
951 goiter 9.6
952 otosclerosis 9.6
953 thyrotoxic exophthalmos 9.6
954 bronchopneumonia 9.6
955 leukemia 9.6
956 duane retraction syndrome 9.6
957 acute leukemia 9.6
958 acoustic neuroma 9.6
959 locked-in syndrome 9.6
960 migraine without aura 9.6
961 enterocele 9.6
962 carotid stenosis 9.6
963 vertebrobasilar insufficiency 9.6
964 acute sphenoidal sinusitis 9.6
965 brain cancer 9.6
966 scrub typhus 9.6
967 glanders 9.6
968 tuberous sclerosis 9.6
969 sapho syndrome 9.6
970 excessive tearing 9.6
971 familial hypercholesterolemia 9.6
972 vestibular nystagmus 9.6
973 labyrinthitis 9.6
974 olivopontocerebellar atrophy 9.6
975 panniculitis 9.6
976 fungal infectious disease 9.6
977 thrombocytopenia 9.6
978 retinal vascular occlusion 9.6
979 hepatitis c 9.6
980 hyperuricemia 9.6
981 bardet-biedl syndrome 9.6
982 thymus lipoma 9.6
983 hyperostosis 9.6
984 constipation 9.6
985 ectodermal dysplasia 9.6
986 basilar artery insufficiency 9.6
987 pharyngitis 9.6
988 colon adenocarcinoma 9.6
989 arteriosclerosis 9.6
990 macrocytic anemia 9.6
991 gangliosidosis 9.6
992 protein s deficiency 9.6
993 thrombophilia 9.6
994 retinal vascular disease 9.6
995 granulomatous angiitis 9.6
996 glomerulonephritis 9.6
997 adenocarcinoma 9.6
998 churg-strauss syndrome 9.6
999 glioblastoma 9.6
1000 anaplastic astrocytoma 9.6
1001 lipid metabolism disorder 9.6
1002 neurilemmoma 9.6
1003 rhabdomyosarcoma 9.6
1004 central nervous system disease 9.6
1005 bipolar disorder 9.6
1006 gm2 gangliosidosis 9.6
1007 mood disorder 9.6
1008 purpura 9.6
1009 bone inflammation disease 9.6
1010 carotid artery disease 9.6
1011 mammary paget's disease 9.6
1012 turner syndrome 9.6
1013 mixed connective tissue disease 9.6
1014 signet ring cell adenocarcinoma 9.6
1015 lateral medullary syndrome 9.6
1016 toxic encephalopathy 9.6
1017 central nervous system cancer 9.6
1018 empty sella syndrome 9.6
1019 lung benign neoplasm 9.6
1020 pulmonary fibrosis 9.6
1021 pleural empyema 9.6
1022 craniopharyngioma 9.6
1023 adult medulloblastoma 9.6
1024 bronchial benign neoplasm 9.6
1025 orbital cancer 9.6
1026 systemic scleroderma 9.6
1027 hypertrichosis 9.6
1028 brain stem glioma 9.6
1029 pyoderma 9.6
1030 amelanotic melanoma 9.6
1031 macular retinal edema 9.6
1032 collecting duct carcinoma 9.6
1033 rhinitis 9.6
1034 orofaciodigital syndrome 9.6
1035 uremia 9.6
1036 endophthalmitis 9.6
1037 intracranial hypotension 9.6
1038 essential tremor 9.6
1039 liver cirrhosis 9.6
1040 nutritional deficiency disease 9.6
1041 von economo's disease 9.6
1042 prolactinoma 9.6
1043 functioning pituitary adenoma 9.6
1044 paget's disease of bone 9.6
1045 lung oat cell carcinoma 9.6
1046 schizoaffective disorder 9.6
1047 retinal disease 9.6
1048 gray zone lymphoma 9.6
1049 gliomatosis cerebri 9.6
1050 bronchitis 9.6
1051 central pontine myelinolysis 9.6
1052 connective tissue disease 9.6
1053 basal ganglia disease 9.6
1054 progressive bulbar palsy 9.6
1055 compartment syndrome 9.6
1056 lymphatic system disease 9.6
1057 neuroblastoma 9.6
1058 epilepsy with generalized tonic-clonic seizures 9.6
1059 chronic rhinitis 9.6
1060 peritonitis 9.6
1061 ileus 9.6
1062 paralytic ileus 9.6
1063 corneal ulcer 9.6
1064 localized scleroderma 9.6
1065 night blindness 9.6
1066 collagen disease 9.6
1067 pyoderma gangrenosum 9.6
1068 herpes simplex 9.6
1069 ulcerative colitis 9.6
1070 nervous system disease 9.6
1071 myeloid leukemia 9.6
1072 neurofibromatosis 9.6
1073 lattice corneal dystrophy 9.6
1074 macroglobulinemia 9.6
1075 gas gangrene 9.6
1076 achalasia 9.6
1077 central sleep apnea 9.6
1078 ocular hypertension 9.6
1079 nasal cavity benign neoplasm 9.6
1080 scotoma 9.6
1081 iridocyclitis 9.6
1082 dacryoadenitis 9.6
1083 acute dacryoadenitis 9.6
1084 actg2 visceral myopathy 9.6
1085 sall4-related disorders 9.6
1086 48,xxxy syndrome 9.6
1087 48,xxyy syndrome 9.6
1088 48,xyyy 9.6
1089 49, xxxxy syndrome 9.6
1090 49,xxxxx syndrome 9.6
1091 acute myeloid leukemia with recurrent genetic anomaly 9.6
1092 albinism 9.6
1093 anaplastic oligoastrocytoma 9.6
1094 cataract-glaucoma 9.6
1095 cerebellar degeneration 9.6
1096 chronic polyradiculoneuritis 9.6
1097 fetal thalidomide syndrome 9.6
1098 granulomatous hypophysitis 9.6
1099 handl syndrome 9.6
1100 migraine with brainstem aura 9.6
1101 multicore disease 9.6
1102 multifocal motor neuropathy 9.6
1103 muscle eye brain disease 9.6
1104 mycetoma 9.6
1105 neonatal meningitis 9.6
1106 neurosyphilis 9.6
1107 oligoastrocytoma 9.6
1108 spastic paraparesis 9.6
1109 cerebral aneurysms 9.6
1110 cerebral arteriosclerosis 9.6
1111 dysautonomia 9.6
1112 foot drop 9.6
1113 hypertonia 9.6
1114 paraneoplastic syndromes 9.6
1115 swallowing disorders 9.6
1116 traumatic brain injury 9.6
1117 systemic autoimmune disease 9.6
1118 neonatal hypoxic and ischemic brain injury 9.6
1119 high-grade astrocytoma 9.6
1120 partial deletion of chromosome 16 9.6
1121 specific language disorder 9.6
1122 nmda receptor encephalitis 9.6
1123 igg4-related pachymeningitis 9.6
1124 pneumococcal meningitis 9.6
1125 non-functioning pituitary adenoma 9.6
1126 premature aging 9.6
1127 rare tumor 9.6
1128 syndrome with 46,xy disorder of sex development 9.6
1129 infectious encephalitis 9.6
1130 cytophagic histiocytic panniculitis 9.6
1131 49,xyyyy syndrome 9.6
1132 epiblepharon 9.6
1133 acute motor axonal neuropathy 9.6

Graphical network of the top 20 diseases related to Kearns-Sayre Syndrome:



Diseases related to Kearns-Sayre Syndrome

Symptoms & Phenotypes for Kearns-Sayre Syndrome

Human phenotypes related to Kearns-Sayre Syndrome:

58 30 (showing 35, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007703
2 progressive external ophthalmoplegia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000590
3 third degree atrioventricular block 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001709
4 ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001251
5 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
6 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
7 emg abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0003457
8 reduced tendon reflexes 58 30 Frequent (33%) Frequent (79-30%)
HP:0001315
9 anterior hypopituitarism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000830
10 ragged-red muscle fibers 58 30 Frequent (33%) Frequent (79-30%)
HP:0003200
11 progressive intervertebral space narrowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0004622
12 hypotonia 30 Frequent (33%) HP:0001252
13 delayed skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002750
14 hemiplegia/hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004374
15 ptosis 30 HP:0000508
16 diabetes mellitus 30 HP:0000819
17 muscular hypotonia 58 Frequent (79-30%)
18 muscle weakness 30 HP:0001324
19 microcephaly 30 HP:0000252
20 sensorineural hearing impairment 30 HP:0000407
21 short stature 30 HP:0004322
22 arrhythmia 30 HP:0011675
23 hypoparathyroidism 30 HP:0000829
24 sensory neuropathy 30 HP:0000763
25 primary adrenal insufficiency 30 HP:0008207
26 lactic acidosis 30 HP:0003128
27 cardiomyopathy 30 HP:0001638
28 dementia 30 HP:0000726
29 pigmentary retinopathy 30 HP:0000580
30 renal tubular acidosis 30 HP:0001947
31 renal fanconi syndrome 30 HP:0001994
32 increased csf protein 30 HP:0002922
33 basal ganglia calcification 30 HP:0002135
34 seizure 30 HP:0001250
35 sideroblastic anemia 30 HP:0001924

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
seizures
sensory neuropathy
dementia
cerebellar ataxia
basal ganglia calcifications
more
Endocrine Features:
diabetes mellitus
hypoparathyroidism
addison disease

Head And Neck Head:
microcephaly

Metabolic Features:
lactic acidosis

Cardiovascular Heart:
cardiomyopathy
cardiac conduction defects
complete heart block

Hematology:
sideroblastic anemia

Head And Neck Eyes:
ptosis
progressive external ophthalmoplegia
pigmentary retinopathy

Muscle Soft Tissue:
muscle weakness
ragged-red fibers seen on muscle biopsy

Growth Height:
short stature

Laboratory Abnormalities:
lactic acidosis
increased cerebrospinal fluid (csf) protein (>100mg/dl)
decreased cerebrospinal fluid folic acid
decreased serum and muscle coenzyme q
mitochondrial dna deletions

Genitourinary Kidneys:
renal tubular acidosis
fanconi syndrome

Head And Neck Ears:
sensorineural hearing loss

Clinical features from OMIM®:

530000 (Updated 24-Oct-2022)

UMLS symptoms related to Kearns-Sayre Syndrome:


cerebellar ataxia; seizures; muscle weakness; ophthalmoplegia; muscle cramp; muscle rigidity; muscle spasticity; myalgia

Drugs & Therapeutics for Kearns-Sayre Syndrome

Drugs for Kearns-Sayre Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 41, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalfampridine Approved Phase 3 504-24-5 1727
2
Clemastine Approved, Investigational Phase 3 15686-51-8 26987
3
Histamine Approved, Investigational Phase 3 51-45-6 774
4 Dermatologic Agents Phase 3
5
Histamine phosphate Phase 3 51-74-1 134614
6 Histamine H1 Antagonists Phase 3
7 Histamine Antagonists Phase 3
8 Anti-Allergic Agents Phase 3
9 Neurotransmitter Agents Phase 3
10 Pharmaceutical Solutions Phase 3
11
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
12
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
13
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
14
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
15
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 2052-63-3, 22737-97-9, 22737-96-8, 68-26-8 9904001 9947823 5280382 445354
16 Potassium Channel Blockers Phase 2
17 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid Phase 2
18 Protective Agents Phase 2
19 Antioxidants Phase 2
20 Nicotinic Acids Phase 2
21 Lipid Regulating Agents Phase 2
22 Micronutrients Phase 2
23 Folate Phase 2
24 Vitamins Phase 2
25 Trace Elements Phase 2
26 Antimetabolites Phase 2
27 Vitamin B9 Phase 2
28 Vitamin B3 Phase 2
29 Vitamin B Complex Phase 2
30 Hypolipidemic Agents Phase 2
31 Vasodilator Agents Phase 2
32 Retinol palmitate Phase 2
33
Lipoic acid Approved, Investigational, Nutraceutical 1077-27-6, 1200-22-2 864 445125 6112
34
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental 461-06-3
35
Resveratrol Investigational 501-36-0 445154
36 Platelet Aggregation Inhibitors
37 Pyruvate
38 Alpha-lipoic Acid
39 Radiopharmaceuticals
40 Fluorodeoxyglucose F18
41 Fluorides

Interventional clinical trials:

(showing 48, show less)
# Name Status NCT ID Phase Drugs
1 Clemastine Fumarate as Remyelinating Treatment in Internuclear Ophthalmoparesis and Multiple Sclerosis Recruiting NCT05338450 Phase 3 Clemastine Fumarate;Placebo
2 A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects With Primary Mitochondrial Disease Resulting From Pathogenic Nuclear DNA Mutations (nPMD) NuPower Recruiting NCT05162768 Phase 3 Elamipretide;Placebo
3 A Randomized, Double-blind, Placebo-controlled Adaptive Phase 2/3 Study With Open-label Extension to Assess the Efficacy, Safety and Tolerability of ASP0367 in Participants With Primary Mitochondrial Myopathy Recruiting NCT04641962 Phase 2, Phase 3 Bocidelpar;Placebo
4 An Open-label, Multi-centre Study to Evaluate the Long-term Safety and Tolerability of REN001 in Subjects With Primary Mitochondrial Myopathy (PMM) Recruiting NCT05267574 Phase 2, Phase 3 REN001
5 A Phase 3 Randomized, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects With Primary Mitochondrial Myopathy Followed by an Open-Label Treatment Extension Terminated NCT03323749 Phase 3
6 Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy Unknown status NCT00457314 Phase 2
7 Study and Treatment of Visual Dysfunction and Motor Fatigue in Multiple Sclerosis Completed NCT02391961 Phase 2 Dalfampridine;Placebo
8 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
9 A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Mitochondrial Myopathy (MOTOR) Completed NCT02255422 Phase 2 Omaveloxolone capsules, 2.5 mg;omaveloxolone capsules, 5 mg;omaveloxolone capsules, 10 mg;Placebo capsules;omaveloxolone capsules, 20 mg;omaveloxolone capsules, 40 mg;omaveloxolone capsules, 80 mg;omaveloxolone capsules, 160 mg
10 A Phase IIb Double-blind, Randomised, Placebo-controlled, Multi-centre, Confirmative Three-way Cross-over Study on Cognitive Function With Two Doses of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation. Completed NCT04165239 Phase 2 KH176;Placebo
11 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover Study to Evaluate Safety, Tolerability, and Efficacy of Subcutaneous Injections of MTP-131 in Subjects With Mitochondrial Myopathy Previously Treated in the SPIMM-201 Study Completed NCT02805790 Phase 2 Elamipretide;Placebo
12 A Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
13 Phase 1/2 Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study for the Safety, Tolerability, and Efficacy of IV MTP-131 for Mitochondrial Myopathy in Genetically Confirmed Mitochondrial Disease Completed NCT02367014 Phase 1, Phase 2 elamipretide (low dose);elamipretide (intermediate dose);elamipretide (high dose);Placebo
14 A Phase IIb Open-label, Multi-centre, Extension Study to Explore the Long-term Safety and Efficacy of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation Who Have Completed the KHENERGYZE Study KH176-202. Recruiting NCT04604548 Phase 2 Oral administration of 100 mg KH176 twice daily
15 A Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of 24 Weeks Treatment With REN001 in Patients With Primary Mitochondrial Myopathy Recruiting NCT04535609 Phase 2 REN001;Placebo
16 Randomized, Double-blinded, Placebo-controlled Study Evaluating the Efficacy of Nicotinamide Riboside (NR) - a Vitamin B3 Derivative - for Treatment of Mitochondrial Myopathy Disorder Not yet recruiting NCT05590468 Phase 2 Placebo
17 A Multicenter, Open-Label Phase 2 Extension Trial to Characterize the Long-term Safety and Tolerability of Subcutaneous Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM) Terminated NCT02976038 Phase 2 elamipretide
18 A Phase Ia/Ib, Multiple-site Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of KL1333 After a Single and Multiple Ascending Oral Doses in Healthy Subjects and Patients With Primary Mitochondrial Disease Completed NCT03888716 Phase 1 KL1333;Placebo Oral Tablet
19 Assess Safety of Intra-arterial Autologous Myogenic Stem Cell Therapy for m.3243A>G Mutation Carriers Recruiting NCT05063721 Phase 1
20 The Utility of pGz in Primary Mitochondrial Disorders Not yet recruiting NCT05569122 Phase 1 Lumason® contrast agent
21 An Open-label Study to Evaluate the Safety and Tolerability of 12 Weeks Treatment With Oral REN001 in Patients With Primary Mitochondrial Myopathy (PMM), With an Optional Extension of Treatment Terminated NCT03862846 Phase 1 REN001
22 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Unknown status NCT03432871
23 Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies Unknown status NCT03513835
24 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
25 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
26 Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia Completed NCT02161848
27 Prevalence of Contrast Enhancement of the Oculomotor Nerve on 3D PD T1 MRI Sequence in Patients With Ophthalmoplegia Completed NCT03269682
28 Prevalence of a High-intensity Signal of the Oculomotor Nerve on T2 MRI Sequence in Patients With Ophthalmoplegia Completed NCT03135574
29 Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders: A Double-blind, Placebo-controlled, Cross Over Study Completed NCT03728777
30 The Effect of Niacin Supplementation on Systemic Nicotinamide Adenine Dinucleotide (NAD+) Metabolism, Physiology and Muscle Performance in Healthy Controls and Mitochondrial Myopathy Patients Completed NCT03973203
31 NiaMIT (NiaMIT_0001) Continuation for Early-stage Mitochondrial Myopathy Patients to Investigate the Effect of Niacin Supplementation on Systemic Nicotinamide Adenine Dinucleotide (NAD+) Metabolism, Physiology and Muscle Performance Completed NCT04538521
32 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
33 Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Completed NCT02895789
34 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy Completed NCT01301235
35 Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy Completed NCT00004770 thioctic acid
36 Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Recruiting NCT05012358
37 Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders Recruiting NCT05554835
38 Foundation Fighting Blindness My Retina Tracker Registry Recruiting NCT02435940
39 A Randomized Cross-Over Clinical Trial Comparing Two Non-Surgical Treatments for Severe Blepharoptosis Recruiting NCT04678115
40 The Investigation of Capsular Tension Rings in Intraocular Lens Rotation Recruiting NCT04436198
41 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420
42 The Development of Minimally Invasive Nanosensor Technology to Quantify Mitochondrial Function in Human Muscle Recruiting NCT04086329
43 Video Consultation and Mitochondrial Myopathies: Study of Efficacy and Tolerance of a Personalized Training Program at Home Recruiting NCT05346627
44 Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders Recruiting NCT05200702
45 Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders Recruiting NCT05199246
46 Development and Validation of a Myopathy Rating Scale in Mitochondrial Disease Recruiting NCT05250375
47 Assess the mtDNA Mutation Load in Mesoangioblasts of mtDNA Mutation Carriers Not yet recruiting NCT05199740
48 A Single Case Study of Hypermetabolism Suspended NCT04805268

Search NIH Clinical Center for Kearns-Sayre Syndrome

Cochrane evidence based reviews: kearns-sayre syndrome

Genetic Tests for Kearns-Sayre Syndrome

Genetic tests related to Kearns-Sayre Syndrome:

# Genetic test Affiliating Genes
1 Kearns-Sayre Syndrome 28
2 Ophthalmoplegia 28

Anatomical Context for Kearns-Sayre Syndrome

Organs/tissues related to Kearns-Sayre Syndrome:

MalaCards : Eye, Retina, Skeletal Muscle, Spinal Cord, Heart, Kidney, Brain

Publications for Kearns-Sayre Syndrome

Articles related to Kearns-Sayre Syndrome:

(showing 6970, show less)
# Title Authors PMID Year
1
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. 62 57
16365882 2006
2
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. 62 57
14627683 2003
3
CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene. 62 5
11756614 2001
4
Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. 62 5
11594340 2001
5
A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. 62 5
11448301 2001
6
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. 62 57
10655159 2000
7
A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome. 62 57
10480366 1999
8
Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. 62 57
10072053 1999
9
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. 62 57
9916807 1999
10
Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. 62 57
9727847 1998
11
Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. 62 57
9361028 1997
12
Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. 62 57
7850981 1995
13
Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? 62 57
7951243 1994
14
Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder. 62 57
8151637 1994
15
Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence. 62 57
7683627 1993
16
Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. 62 57
1635816 1992
17
Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child. 62 57
1734716 1992
18
Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. 62 57
1965208 1990
19
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. 62 57
2395603 1990
20
Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. 62 57
2813377 1989
21
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. 62 57
2541333 1989
22
Kearns-Sayre syndrome and complex II deficiency. 62 57
2710360 1989
23
Kearns-Sayre syndrome in twins: lethal dominant mutation or acquired disease? 62 57
3412586 1988
24
Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 62 57
3412580 1988
25
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. 62 57
2895391 1988
26
Cardiomyopathy in the Kearns-Sayre syndrome. 62 57
3370184 1988
27
Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. 62 57
3974895 1985
28
Discordant HLA haplotype segregation in a family with progressive extrinsic ophthalmoplegia and ragged red fibres. 62 57
6886725 1983
29
Mitochondrial inheritance in a mitochondrially mediated disease. 62 57
6866014 1983
30
Autosomal dominant Kearns-Sayre syndrome. 62 57
7383548 1980
31
Basal ganglia calcification in Kearns-Sayre syndrome. 62 57
508131 1979
32
Familial Kearns-Sayre syndrome. 62 57
572507 1979
33
Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome). 62 57
758643 1979
34
Ophthalmoplegia-plus, a real nosological entity. 62 57
212920 1978
35
Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? 62 57
889288 1977
36
A case of progressive external ophthalmoplegia (Kiloh-Nevin type) with abnormal mitochondria. Clinical, histochemical and ultrastructural findings. 62 57
902667 1977
37
Familial progressive external ophthalmoplegia with abnormal muscle mitochondria. 62 57
902666 1977
38
Kearns-Sayre syndrome. A review of a multisystem disorder of children and young adults. 62 57
791168 1976
39
Familial progressive external ophthalmoplegia and ragged-red fibers. 62 57
4153849 1974
40
Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family. 62 57
5364721 1969
41
External ophthalmoplegia and complete heart block. 62 57
5762373 1969
42
Progressive ophthalmoplegia. Report of cases. 62 57
4175668 1968
43
Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. 62 57
5652994 1968
44
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 5
20550934 2010
45
Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing. 57
8155737 1994
46
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. 57
1712754 1991
47
Germ-line deletions of mtDNA in mitochondrial myopathy. 57
2014792 1991
48
Duplications of mitochondrial DNA in mitochondrial myopathy. 57
2563411 1989
49
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. 57
2830540 1988
50
The pituitary gland in the Laurence-Moon syndrome. 57
3821182 1987
51
Sequence and organization of the human mitochondrial genome. 57
7219534 1981
52
Ocular myopathy and Marfan's syndrome. A family study. 57
7373340 1980
53
Leukoencephalopathy in oculocraniosomatic neuromuscular disease with ragged-red fibers. Mitochondrial abnormalities demonstrated by computerized tomography. 57
697605 1978
54
Oculocraniosomatic neuromuscular disease with "ragged-red" fibers. 57
4400816 1972
55
A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics. 57
4163596 1967
56
A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. II. Ultrastructure. 57
4163597 1967
57
Alteration of cytochrome oxidase subunit I labeling is associated with severe mitochondriopathy in NRTI-related hepatotoxicity in HIV patients. 53 62
16810313 2006
58
[Severe neonatal mitochondrial cytopathy caused by isolated COX defect]. 53 62
11003935 2000
59
Cytochrome c oxidase deficiency. 53 62
2175026 1990
60
Management of Extensive Central Nervous System Cladophialophora bantiana Infection in a 9-Year-Old Child. 62
36102704 2022
61
Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report. 62
36192783 2022
62
A 40-Year-Old Woman With COVID-19 and Bilateral Vision Loss. 62
36147755 2022
63
Hemicranial postural headache as a first symptom of a spontaneous carotid cavernous fistula: A case report. 62
36254069 2022
64
Rhino-orbital mucormycosis in a patient with no susceptibility following P.vivax malaria infection-a case report. 62
36183076 2022
65
Adenoid cystic carcinoma of the orbit with bilateral cavernous sinus extension: A case report. 62
36099771 2022
66
Ventricular Arrhythmias in Kearns Sayre Syndrome: A Cohort Study Using the National Inpatient Sample Database 2016-2019. 62
36208035 2022
67
Ophthalmic manifestations of MEPAN syndrome. 62
36262091 2022
68
Serum Calcitonin Gene-Related Peptide Is Elevated in Patients With Migraine and Ophthalmoplegia. 62
36255114 2022
69
Diagnosing myasthenia gravis using orthoptic measurements: assessing extraocular muscle fatiguability. 62
36261286 2022
70
2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. 62
35500790 2022
71
Mimicking the mimicker: Necrotizing sarcoid granulomatosis. 62
35490705 2022
72
Double-hit and triple-hit high-grade B-cell lymphoma of the ocular adnexa. 62
33779481 2022
73
Acute Oropharyngeal Palsy Following Bilateral Adie's Tonic Pupils Associated with Anti-GT1a and GQ1b IgG Antibodies. 62
35370231 2022
74
Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion. 62
36181358 2022
75
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure. 62
36253820 2022
76
COVID-19 provoked internuclear ophthalmoplegia in a child with arrested hydrocephalus. 62
36190082 2022
77
A 57-year-old man with painful ophthalmoplegia and cavernous sinus involvement: Why this is not Tolosa-Hunt syndrome. 62
36073199 2022
78
Ataxia and ophthalmoplegia: an atypical case of Miller Fisher syndrome (MFS) with anti-GAD antibody. 62
33280463 2022
79
Bilateral hypertrophic olivary degeneration in a syndrome of sensory ataxic neuropathy with dysarthria and ophthalmoplegia. 62
35906095 2022
80
Ophthalmoplegia in Patient With Papilledema. 62
36255092 2022
81
[Acute proptosis and ophthalmoplegia in the context of bilateral superior ophthalmic vein thrombosis]. 62
35764507 2022
82
Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report. 62
36159412 2022
83
Recovery of Complete Blindness and Internal Ophthalmoplegia After Transsphenoidal Decompression of Pituitary Apoplexy. 62
36199649 2022
84
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients. 62
35758105 2022
85
A child with mitochondrial DNA deletion presenting diabetes mellitus as an initial symptom. 62
35755118 2022
86
Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision. 62
35789979 2022
87
The sellar region as presenting theater for hematologic malignancies-A 17-year single-center experience. 62
35400679 2022
88
Acute comitant strabismus in anti-GQ1b antibody syndrome. 62
36175671 2022
89
Clinical and imaging clues to the diagnosis and follow-up of ptosis and ophthalmoparesis. 62
36172973 2022
90
A review of surgical management of progressive myogenic ptosis. 62
36178005 2022
91
Preventive migraine treatment in mitochondrial diseases: a case report of erenumab efficacy and literature review. 62
36097203 2022
92
: A case report of re-challenge of immune checkpoint inhibitors after immune-related neurological adverse events: Review of literature. 62
36086790 2022
93
Discordant horizontal-torsional nystagmus: a sign of posterior semicircular canal dysfunction. 62
35543743 2022
94
Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families. 62
36138147 2022
95
[Miller Fisher syndrome]. 62
36205161 2022
96
PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group. 62
35698866 2022
97
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study. 62
36148898 2022
98
GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy. 62
35700120 2022
99
Lemierre syndrome associated mycotic cavernous sinus thrombosis and carotid aneurysm after COVID-19. 62
35782172 2022
100
Orbital apex syndrome secondary to apical periodontitis of a tooth: a case report. 62
36123630 2022
101
AntiGQ1b antibody positive with MFS/GBS overlapped syndrome with diplopia and hemiplegia onset: Case report and retrospective analysis. 62
36123885 2022
102
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study. 62
35792653 2022
103
Distinguishing orbital cellulitis from preseptal cellulitis in children. 62
36050606 2022
104
Clinical Markers of Need for Surgery in Orbital Complication of Acute Rhinosinusitis in Children: Overview and Systematic Review. 62
36143312 2022
105
Retrobulbar Injection of Amphotericin B in Patients With COVID-19 Associated Orbital Mucormycosis: A Systematic Review. 62
35943425 2022
106
A Stroke of Vision as One-and-a-Half Syndrome: Is It Time to Update the FAST Criteria and ABCD2 Score? 62
36159351 2022
107
Pontine warning syndrome and restless legs syndrome secondary to paramedian pontine infarction: a case report. 62
33175613 2022
108
Endovascular Treatment of Cavernous Sinus Dural Arteriovenous Fistulas. Institutional Series, Systematic Review and Meta-Analysis. 62
34910224 2022
109
Structural insight and characterization of human Twinkle helicase in mitochondrial disease. 62
35914129 2022
110
Successful Outcome in an Adolescent with Artery of Percheron Occlusion who was Treated with Tissue Plasminogen Activator. 62
35840436 2022
111
Yolk sac tumours of the orbit and sinonasal tract. 62
35938374 2022
112
A Case Report of Wernicke's Encephalopathy Disguised As Limbic Encephalitis: A Clinical Puzzle. 62
36127954 2022
113
Frontal sinus mucocele with orbital extension drained via a combined upper lid skin crease and endoscopic approach. 62
35999979 2022
114
Endoscopic Endonasal Optic Nerve Decompression in a Patient With Invasive Fungal Sinusitis Invasion Into the Orbital Apex: Intraoperative Video and Literature Review. 62
35968978 2022
115
Abducens Nerve Palsy as a Presenting Symptom of Multiple Sclerosis. 62
36017545 2022
116
[Guillain-Barré syndrome and other autoimmune neurophaties: current therapy]. 62
36054864 2022
117
A case of Miller Fisher syndrome with delayed onset peripheral facial nerve palsy after COVID-19 vaccination: a case report. 62
35996074 2022
118
Clinical Reasoning: An 8-Year-Old With Acute Onset Ataxia. 62
35970580 2022
119
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort. 62
35980466 2022
120
Horner Syndrome and Internuclear Ophthalmoplegia Due to Biopsy-Proven Giant Cell Arteritis. 62
36000760 2022
121
Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases. 62
35812164 2022
122
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. 62
36018820 2022
123
Internuclear Ophthalmoplegia as an Isolated Symptom of Brainstem Wake-up Stroke Responsive to Intravenous Thrombolysis: Evidence from MRI. 62
36017839 2022
124
Bilateral Complete Ophthalmoplegia in a 50-Year-Old Man. 62
35666523 2022
125
Ophthalmoplegia in a Her2+ and β-hCG+ Patient With Leptomeningeal Carcinomatosis Secondary to Gastric Adenocarcinoma. 62
35815304 2022
126
[A case of cardioembloic stroke with wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome]. 62
35753783 2022
127
Acute eye movement-retained internal ophthalmoplegia in atypical Miller Fisher syndrome variants are associated with IgG anti-GQ1b antibodies. 62
35537332 2022
128
Potpourri of retinopathies in rare eye disease - A case series. 62
35791168 2022
129
Recurrent Painful Ophthalmoplegic Neuropathy with Unilateral Oculomotor and Trochlear Nerve Palsy in an 8-year-old Girl. 62
35867412 2022
130
Probable progressive supranuclear palsy in a patient with chronic schizophrenia: A case report. 62
35761809 2022
131
Sudden vision loss and neurological deficits after facial hyaluronic acid filler injection. 62
35850779 2022
132
A case of aseptic bilateral cavernous sinus thrombosis following a recent inactivated SARS-CoV-2 vaccination. 62
36248079 2022
133
Lady in red: A case of Kearns-Sayre syndrome supported by histopathology. 62
35791170 2022
134
Low Prevalence of Cardiomyopathy in Patients with Mitochondrial Disease and Neurological Manifestations. 62
35877583 2022
135
Miller-Fisher syndrome associated with SARS-CoV-2: a case report. 62
35240290 2022
136
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene. 62
35906671 2022
137
Cognition in Trinucleotide Repeat Spinocerebellar Ataxias: A Review. 62
36211141 2022
138
Corticosteroid-induced bradycardia in multiple sclerosis and maturity-onset diabetes of the young due to hepatocyte nuclear factor 4-alpha mutation: A case report. 62
36158012 2022
139
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. 62
35617047 2022
140
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN A CASE OF HIGH-FLOW DIRECT CAROTID CAVERNOUS FISTULA. 62
32205713 2022
141
Bilirubin Encephalopathy. 62
35588044 2022
142
An Unusual Case of Wernicke's Encephalopathy in a Child. 62
36039248 2022
143
Nothnagel Syndrome. 62
35817948 2022
144
Rhino-orbital mucormycosis during steroid therapy in COVID-19 patients: A case report. 62
33843287 2022
145
Tolosa-Hunt Syndrome and Hemorrhagic Encephalitis Presenting in a Patient after COVID-19 Vaccination Followed by COVID-19 Infection. 62
35884709 2022
146
Natural history of pituitary apoplexy: a long-term follow-up study. 62
35701171 2022
147
[A case of Coexistent Persistent Trigeminal and Hypoglossal Arteries Manifested with Neurovascular Compression Syndrome by Hypertension]. 62
35676216 2022
148
Recurrent Miller Fisher Syndrome. 62
35891880 2022
149
Clinical Features and Mortality of COVID-19-Associated Mucormycosis: A Systematic Review and Meta-Analysis. 62
35312945 2022
150
Acute dacryoadenitis in a patient with SARS-CoV-2 infection. 62
33402004 2022
151
Diagnostic controversies in recurrent painful ophthalmoplegic neuropathy: single case report with a systematic review. 62
35659705 2022
152
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells. 62
35698232 2022
153
[YANG Jun's clinical experience of acupuncture for oculomotor paralysis]. 62
35712952 2022
154
Quality of life and surgical outcomes in incidental pituitary adenomas undergoing endoscopic endonasal resection. 62
35901767 2022
155
Update on the medial longitudinal fasciculus syndrome. 62
35258687 2022
156
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian Disorder. 62
35652444 2022
157
Predictive Clinical and Surgical Factors Associated with Recurrent Apoplexy in Pituitary Adenomas. 62
35832949 2022
158
A case of new cognitive changes in a patient with seronegative paraneoplastic limbic encephalitis: encephalitis relapse or Wernicke's encephalopathy? 62
35912569 2022
159
Mycotic pseudoaneurysm in the internal carotid artery secondary to cranial base abscess diagnosed with optic neuritis: a case report. 62
35748069 2022
160
Etiology and Pathophysiological Pathways of Ocular Complications Associated with Local Dental Anesthesia and Odontogenic Infections: A Systematic Review. 62
35712401 2022
161
Sellar, suprasellar, and parasellar masses: Imaging features and neurosurgical approaches. 62
34856828 2022
162
Endoscope Assisted Combined Drainage of Sino-Orbital Abscess: Technique Revisited. 62
35813769 2022
163
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. 62
35637064 2022
164
Orbital giant cell myositis is an unusual and potentially lethal cause of bilateral ophthalmoplegia - A case report and literature review. 62
33297808 2022
165
Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China. 62
35314910 2022
166
Strabismus surgery outcomes for internuclear ophthalmoplegia with exotropia. 62
35438603 2022
167
Wernicke Korsakoff syndrome in a teenage female as a complication of COVID-19. 62
35505931 2022
168
The use of frontalis sling in the management of variable ptosis secondary to congenital myasthenic syndrome. 62
33467958 2022
169
Mitochondrial bioenergetics in ocular fibroblasts of two myasthenia gravis cases. 62
35746973 2022
170
Chameleons, red herrings, and false localizing signs in neurocritical care. 62
32924623 2022
171
Ophthalmic artery occlusion after glabellar hyaluronic acid filler injection. 62
35243152 2022
172
A Case of Ophthalmoplegia, Hypotonia, and Developmental Delay in the Setting of Corpus Callosum Hypoplasia. 62
35844343 2022
173
High-grade idiopathic atrioventricular block in childhood: Case report and literature review. 62
35704901 2022
174
A Rare Case of Intravascular Large B-cell Lymphoma Presenting With Bilateral Ophthalmoplegia, Along With a Literature Review. 62
35844347 2022
175
A Case Report on a Unique Explanation for Headache With Ophthalmoplegia: The Tolosa-Hunt Syndrome. 62
35875300 2022
176
Teaching Caseimage: Acute unilateral internuclear ophthalmoplegia (INO) rapidly progressing to Exotropic Bilateral INO (EBINO). 62
35434420 2022
177
Internuclear Ophthalmoplegia Characterizes Multiple Sclerosis Rather Than Neuromyelitis Optica Spectrum Disease. 62
35427281 2022
178
A case of total ophthalmoplegia associated with a COVID-19 infection: case report. 62
35619686 2022
179
Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions. 62
35289132 2022
180
Orbital Myositis in a Patient With Ileal Crohn's Disease in Remission on Vedolizumab. 62
35919668 2022
181
Miller Fisher syndrome after COVID-19 vaccination: Case report and review of literature. 62
35608434 2022
182
Exophthalmos associated with chronic progressive external ophthalmoplegia. 62
35438395 2022
183
Guillain-Barré syndrome spectrum as manifestation of HIV-related immune reconstitution inflammatory syndrome: case report and literature review. 62
35605654 2022
184
Myasthenia gravis coexisting with HINT1-related motor axonal neuropathy without neuromyotonia: a case report. 62
35501818 2022
185
Titanium T-Plate as a Stabilizing Platform in the Management of Acquired Nystagmus and Oscillopsia Without a Null Zone. 62
35093990 2022
186
Visual loss after aesthetic facial filler injection: a literature review on an ophthalmologic issue. 62
34852044 2022
187
Management of neurovascular emergencies with ophthalmic manifestations. 62
35937751 2022
188
Management options for orbital complications of acute rhinosinusitis in pediatric patients. 62
35405499 2022
189
Endoscopic Far-Lateral Supracerebellar Infratentorial Approach for Petroclival Region Meningioma: Surgical Technique and Clinical Experience. 62
35315837 2022
190
Clinico-Radiological-Pathological Correlation of Visual Loss in COVID-Associated Rhino-Orbito-Cerebral Mucormycosis. 62
34919070 2022
191
Recovery from Cranial Nerve Symptoms after Flow Diversion without Coiling for Unruptured Very Large and Giant ICA Aneurysms. 62
35450858 2022
192
Hashimoto's encephalopathy presenting as Wernekinck commissure syndrome: A case report. 62
35102820 2022
193
Orbital apex syndrome secondary to herpes zoster ophthalmicus: Clinical features and outcomes case report and systematic review. 62
35364439 2022
194
Post-COVID-19 rhino-orbito-cerebral mucormycosis: a new addition to challenges in pandemic control. 62
34309754 2022
195
Clinical and Radiological Features of Intramuscular Orbital Amyloidosis: A Case Series and Literature Review. 62
34516528 2022
196
A Case of Spontaneous Bilateral Direct Carotid-Cavernous Fistula. 62
35664394 2022
197
Ocular Complications Post-Cosmetic Periocular Hyaluronic Acid Injections: A Systematic Review. 62
35091771 2022
198
Significant Vision Recovery from Filler-Induced Complete Blindness with Combined Intra-Arterial Injection of Hyaluronidase and Thrombolytic Agents. 62
34767060 2022
199
Towards a pituitary apoplexy classification based on clinical presentation and patient journey. 62
35067902 2022
200
Hyperemesis Gravidarum Complicated by Wernicke's Encephalopathy: A Case Report. 62
35547424 2022
201
Carotid-cavernous fistula masquerading as thyroid associated orbitopathy: a diagnostic challenge. 62
35935074 2022
202
When your cat takes you to the ICU: Miller Fisher/ Guillain-Barré-overlap-syndrome caused by Pasteurella multocida infection resembling wound botulism. 62
35123165 2022
203
Clinical and antibodies analysis of anti-GQ1b antibody syndrome: a case series of 15 patients. 62
35399126 2022
204
Intensive nutrition support may benefit patients with a rare mitochondrial disorder. 62
34170051 2022
205
Anti-GQ1b Antibody Syndrome with Visual Impairment: A Retrospective Case Series. 62
35633162 2022
206
Pediatric endothelial keratoplasty: a systematic review and individual participant data meta-analysis. 62
34709453 2022
207
Reply to the Letter "Long-Term Results of Palpebral Fissure Transfer With No Lower Eyelid Spacer in Chronic Progressive External Ophthalmoplegia". 62
34793717 2022
208
Comment on ``Long-term results of palpebral fissure transfer with no lower eyelid spacer in chronic progressive external ophthalmoplegia''. 62
34793716 2022
209
External Ophthalmoplegia and Brainstem White Matter Lesions: Presentation of Myotonic Dystrophy Type 1. 62
35442941 2022
210
A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss. 62
35190254 2022
211
Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation. 62
35477912 2022
212
Internuclear ophthalmoplegia, skew deviation and nystagmus from facial colliculus infarction: small lesion big trouble. 62
35366190 2022
213
[A case of recurrent headache and ophthalmoplegia with a contrast-enhanced lesion of the oculomotor nerve in the cavernous region: an atypical phenotype of recurrent painful ophthalmoplegic neuropathy]. 62
35354725 2022
214
Endoscopic endonasal approach to the cavernous sinus Epstein-Barr virus-positive B cell non-Hodgkin lymphoma in a child: case report. 62
34160652 2022
215
An Atypical Phenotype of Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated with Ocular Palsy, IgM-anti Ganglioside Antibody, and Fever-induced Recurrence. 62
34615817 2022
216
Nutrition rehabilitation-related complications in primary mitochondrial disorders. 62
34270139 2022
217
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. 62
35321980 2022
218
Pituitary Apoplexy Following Severe Diabetic Ketoacidosis, With Two Uncommon Complications of Supraventricular Tachycardia and Acute Limb Ischemia in a Patient with Neglected Pituitary Adenoma and Undiagnosed Diabetes Mellitus: A Rare Clinical Association. 62
35873842 2022
219
Bilateral Posterior Ischemic Optic Neuropathy as a Presentation of Severe Uncontrolled Diabetes Mellitus: A Case Report. 62
35238833 2022
220
Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial Diseases 62
34928236 2022
221
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy. 62
35031921 2022
222
Clinical and molecular spectrum associated with Polymerase-γ related disorders. 62
34986040 2022
223
Mild Bilateral Internuclear Ophthalmoplegia: The Diagnostic Role of the Vertical Posterior Canal Vestibulo-Ocular Reflex in Acute Brainstem Demyelination, a Clinical-Radiologic Correlation. 62
34001732 2022
224
Isolated Bilateral Internal Ophthalmoplegia as an Atypical Initial Presentation of anti-GQ1b Antibody Syndrome. 62
34310460 2022
225
Herpes Zoster Opthalmicus-Related Ophthalmoplegia: Anatomical, Pathogenetic, and Therapeutic Perspectives. 62
35275867 2022
226
Oblique saccades in internuclear ophthalmoplegia. 62
35067725 2022
227
Erdheim-Chester disease: a comprehensive review from the ophthalmologic perspective. 62
34081930 2022
228
Frontalis Suspension in Muscular Dystrophy: 16-years Follow-up. 62
35356040 2022
229
Miller Fisher syndrome following Pfizer COVID-19 vaccine. 62
34817727 2022
230
Miller Fisher Syndrome Presenting Without Areflexia, Ophthalmoplegia, and Albuminocytological Dissociation: A Case Report. 62
35475055 2022
231
Ophthalmic herpes zoster with severe complications in an immunocompromised patient: A case report and review of the literature. 62
35126717 2022
232
Atypical presentation of an atypical pneumonia: a case report. 62
35292096 2022
233
Metastatic Breast Cancer Presenting as Progressive Ophthalmoplegia 30 Years After Initial Cancer Diagnosis. 62
34417769 2022
234
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions. 62
35326425 2022
235
A rare combination of complications of ruptured carotid artery aneurysm: A case report. 62
35003474 2022
236
Sinogenic polymicrobial anaerobic orbital cellulitis: the importance of source control and broad empirical antibiotics. 62
35351758 2022
237
A Rare Neuro-Ophthalmological Condition in a Patient with Lung Adenocarcinoma: The Eight-and-a-Half Syndrome, Case Report and Review of the Literature. 62
35447982 2022
238
Spontaneous postpartum lateral rectus haemorrhage. 62
35241450 2022
239
Invasive sphenoid sinus aspergillosis with normal findings on initial diagnostic tests that mimics Tolosa-Hunt syndrome-a diagnostic dilemma: a case report. 62
35272433 2022
240
Wernicke's encephalopathy secondary to hyperemesis gravidarum: A clinical challenge. 62
35320243 2022
241
[Study of an ocular ptosis in a 13th century illuminated manuscript]. 62
35275396 2022
242
Clinical and genetic features of four patients with Pearson syndrome: An observational study. 62
35119049 2022
243
Localized surgical debridement for the management of orbital mucormycosis. 62
35086255 2022
244
Management of periorbital cellulitis at the Pediatric Emergency Department: A ten years study. 62
34973820 2022
245
A fungal epidemic amidst a viral pandemic: Risk factors for development of COVID-19 associated rhino-orbital-cerebral mucormycosis in India. 62
35192435 2022
246
Rapidly progressive dementia and intractable diarrhea: a teaching case report and a systematic review of cognitive impairment in Whipple's disease. 62
34981284 2022
247
A new injury severity scale for ocular complications following cosmetic filler injection. 62
35227002 2022
248
Predictors of visual and endocrine outcomes after endoscopic transsphenoidal surgery for pituitary adenomas. 62
34618249 2022
249
Body Weight Gain Is Associated with the Disease Stage in Advanced Amyotrophic Lateral Sclerosis with Invasive Ventilation. 62
35208264 2022
250
Long-term Results of Palpebral Fissure Transfer With No Lower Eyelid Spacer in Chronic Progressive External Ophthalmoplegia. 62
34339660 2022
251
Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene. 62
34636138 2022
252
Downbeat Nystagmus Associated With Wall-Eyed Bilateral Internuclear Ophthalmoplegia in Paramedian Pontine Tegmentum Infarction. 62
35234687 2022
253
Intravascular Large B-cell Lymphoma Diagnosed by Nasal Biopsy in a Patient Presenting with Bilateral Ptosis and Ophthalmoplegia. 62
35226576 2022
254
Wall-eyed bilateral internuclear ophthalmoplegia (WEBINO): what does it mean to be wall-eyed? 62
34836932 2022
255
Wall-eyed bilateral internuclear ophthalmoplegia associated with etanercept. 62
34353861 2022
256
Post-COVID simultaneous onset of Graves' disease and ocular myasthenia gravis in a patient with a complex ocular motility impairment. 62
35167395 2022
257
Correction to: Kearns‑Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy. 62
35150352 2022
258
A case of Graves' disease presenting with internal ophthalmoplegia during methylmercaptoimidazole treatment. 62
34544941 2022
259
Case Report: Kearns Sayre Syndrome Complicated With Postpartum Cardiac Failure. 62
35795638 2022
260
Thyrotoxic myopathy: research status, diagnosis, and treatment. 62
35119093 2022
261
Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy. 62
34459418 2022
262
Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN. 62
34565654 2022
263
Kearns-Sayre syndrome with a novel large-scale deletion: a case report. 62
35073857 2022
264
Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report. 62
35721635 2022
265
The Epidemiology and Phenotypes of Ocular Manifestations in Childhood and Juvenile Myasthenia Gravis: A Review. 62
35280301 2022
266
Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report. 62
35860740 2022
267
Comparative endoscopic techniques of medial rectus muscle retraction for approaching intraconal tumors: Our experience with five cases. 62
35910467 2022
268
Disorders of vision in multiple sclerosis. 62
34348598 2022
269
Nystagmus in Down Syndrome - a Retrospective Notes Review. 62
35837367 2022
270
Cerebral demyelination with internuclear ophthalmoplegia following wasp sting. 62
34402707 2022
271
Compound Heterozygous COX20 Variants Impair the Function of Mitochondrial Complex IV to Cause a Syndrome Involving Ophthalmoplegia and Visual Failure. 62
35651336 2022
272
Coronary Arteriography Complicated with Ophthalmoplegia. 62
34672997 2022
273
Case report: A variant of wall-eyed bilateral internuclear ophthalmoplegia from unilateral pons infarction. 62
36161185 2022
274
Serous retinal detachment secondary to an unsuccessful transarterial embolization in a post-traumatic carotid-cavernous sinus fistula patient: A case report. 62
36072950 2022
275
Long-term Outcomes of Ophthalmic and Retinal Artery Occlusion After Cosmetic Facial Filler Injection. 62
33615335 2022
276
Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad. 62
35502402 2022
277
Molecular Genetics Overview of Primary Mitochondrial Myopathies. 62
35160083 2022
278
Neuropathic Pain as Main Manifestation of POLG-Related Disease: A Case Report. 62
35350396 2022
279
Mitochondrial Retinopathy. 62
34257060 2022
280
Campylobacter jejuni-Associated Hemophagocytic Lymphohistiocytosis and Guillain-Barre Syndrome: A Case Report. 62
35872780 2022
281
An Atypical Case of Miller Fisher Syndrome with Multiple Autoimmunity. 62
35273417 2022
282
Reversal of Stroke-Like Episodes With L-Arginine and Meticulous Perioperative Management of Renal Transplantation in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. Case Report. 62
34950389 2022
283
Miller Fisher syndrome and Guillain-Barré syndrome: dual intervention rehabilitation of a complex patient case. 62
32149554 2022
284
Cavernous Sinus Thrombosis and Blindness Complicating Dental Infection. 62
35186577 2022
285
Surgical management of a penetrating drill bit injury to the skull base. 62
35242415 2022
286
Orbital Apex Syndrome Due to Mucormycosis - Missed on Initial MRI. 62
34950400 2022
287
Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset. 62
35159298 2022
288
Complement C1q Binding Protein (C1QBP): Physiological Functions, Mutation-Associated Mitochondrial Cardiomyopathy and Current Disease Models. 62
35310974 2022
289
Covid-19-Related Acute Invasive Fungal Sinusitis: Clinical Features and Outcomes. 62
35096173 2022
290
Cochlear Implantation in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome: Case Presentation. 62
35193849 2022
291
Acupuncture combined tuina for oculomotor paralysis: A protocol for systematic review and meta-analysis. 62
35029188 2022
292
Orbital Cellulitis following COVID-19 Vaccination. 62
35611007 2022
293
Clinical outcome of orbital apex syndrome in COVID associated mucormycosis patients in a tertiary care hospital. 62
35450177 2022
294
[Mild encephalopathy with a reversible splenial lesion in a child]. 62
36170096 2022
295
Surgical outcomes and longitudinal quality of life after endoscopic endonasal surgery for anterior skull base meningioma. 62
35171831 2022
296
Wernekinck Commissure Syndrome with Holmes Tremor: A Report of Two Cases and Review of Literature. 62
35263896 2022
297
Primary Vitreoretinal Lymphoma: A Retrospective Study of 20 Eyes. 62
35814482 2022
298
[Postcovid sino-orbital mucormycosis: a case report]. 62
35818954 2022
299
Radiological Latency in Pineal Germinoma: A Case Report and Literature Review. 62
35859628 2022
300
Cobra envenomation in an elderly female mimicking brain death- A case report. 62
35309647 2022
301
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions. 62
35711919 2022
302
[Rare association of subperiosteal hematoma of the orbit with frontal extradural hematoma: a case report]. 62
35721655 2022
303
Dramatic neuromuscular paralysis following occult snakebites: An awareness for the primary care physician. 62
35309641 2022
304
Concurrent Tuberculous Meningoencephalitis and Anti-NMDAR Encephalitis: A Case Report. 62
35873772 2022
305
Concurrent hospitalization of a married couple presenting with distinct symptoms but diagnosed with a life-threatening infectious disease. 62
35946627 2022
306
Case report: Meningitis and intracranial aneurysm caused by mixed infection of oral microflora dominated by anaerobes. 62
35989934 2022
307
Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome. 62
36034288 2022
308
Olfactory Neuroblastoma: An Unusual Ocular Presentation. 62
35574165 2022
309
Case report: A pediatric case of Bickerstaff brainstem encephalitis after COVID-19 vaccination and Mycoplasma pneumoniae infection: Looking for the culprit. 62
36032138 2022
310
Ophthalmological Manifestations of Hereditary Myopathies. 62
35049410 2022
311
Rare pathogenic mutation in the thymidine phosphorylase gene (TYMP) causing mitochondrial neurogastrointestinal encephalomyelopathy. 62
36072350 2022
312
Superior ophthalmic vein thrombosis following coil embolization of posterior communicating artery aneurysm: Report of two cases. 62
32815415 2022
313
Frozen overnight: Acute orbital apex syndrome caused by aspergillosis. 62
35001696 2022
314
Pituitary incidentaloma. 62
36208928 2022
315
Double Down on Double Vision: An Unusual Case of Painful Diplopia. 62
35111483 2021
316
Invasive Fungal Sinusitis in Post COVID-19 Patients: A New Clinical Entity. 62
34009676 2021
317
How does a small area cause big syndromes? A case report of a patient with one-and-a-half syndrome and MRI review of the anatomical pathways involved in causing different pontine neuro-ophthalmological syndromes. 62
34786518 2021
318
Surgical Outcomes of Transposition Surgery for the Correction of Large-Angle Strabismus. 62
34788250 2021
319
Atypical Clinical and Neuroradiological Findings in a Child With Bifacial Weakness With Paresthesias. 62
34808652 2021
320
Acute Bulbar Palsy and Ophtalmoplegia Associated With Anti-GT1a IgG Antibodies. 62
34967823 2021
321
Multiple Cranial Neuropathies and Pachymeningitis in a Patient With a Pathogenic Nucleotide-Binding Oligomerization Domain 2 Polymorphism. 62
34788239 2021
322
A case of Bickerstaff encephalitis with overlapping Gullian Barre syndrome in a pediatric patient treated with therapeutic plasma exchange. 62
34521589 2021
323
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. 62
34652576 2021
324
Atheromatosis of the Scalp: A Novel Feature of Chronic Progressive External Ophthalmoplegia Plus Due to a Single Mitochondrial DNA Deletion. 62
35103203 2021
325
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations. 62
35011763 2021
326
Spinocerebellar ataxia type 23 (SCA23): a review. 62
33175256 2021
327
Slowly Progressive Ophthalmoplegia as a Presenting Symptom of Myotonic Dystrophy Type 1. 62
33136670 2021
328
Mitochondrial Retinopathies. 62
35008635 2021
329
"Parkinson's disease" on the way to progressive supranuclear palsy: a review on PSP-parkinsonism. 62
34532773 2021
330
Painful ophthalmoplegia syndrome, beyond Tolosa-Hunt syndrome. A case series. 62
34844691 2021
331
Resolved External Ophthalmoplegia and Hearing Loss in Wernicke's Encephalopathy With Thiamine Replacement. 62
32833862 2021
332
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. 62
34872991 2021
333
Ocular involvement in Kearns-Sayre syndrome. 62
34364695 2021
334
Odontogenic Lemierre's syndrome with septic superior ophthalmic vein and cavernous sinus thrombophlebitis complicated by blindness and ophthalmoplegia. 62
34781813 2021
335
Facial Nerve Palsy in COVID-19-Associated Mucormycosis Patients: A Case Series. 62
34873538 2021
336
Identical twins with progressive kyphoscoliosis and ophthalmoplegia. 62
34844747 2021
337
I think I have double vision? Or not? Internuclear Ophthalmoplegia following right lacunar infarct. 62
34806694 2021
338
The Phenotypic Spectrum of Progressive External Ophthalmoplegia Plus is Broader than Anticipated. 62
34979723 2021
339
Atypical case of acute unilateral complete external ophthalmoplegia. 62
34127305 2021
340
Identical twins with progressive kyphoscoliosis and ophthalmoplegia: Expert commentary. 62
34006452 2021
341
Chronic Macular Oedema as a Late MIRAgel-Related Complication. 62
34842848 2021
342
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India. 62
33469851 2021
343
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy? 62
34946867 2021
344
A case of adult-onset ophthalmoplegic migraine. 62
34979694 2021
345
Recurrent painful ophthalmoplegic neuropathy: a cause for recurrent third nerve palsy in a child. 62
34764123 2021
346
Ophthalmic manifestations of myelin oligodendrocyte glycoprotein-IgG-associated disorder other than optic neuritis: a systematic review. 62
32998905 2021
347
Paediatric rhombencephalitis presenting with bradycardia: a good recovery despite cardiac involvement. 62
34753718 2021
348
Seropositive Muscle-Specific Tyrosine Kinase Myasthenia Gravis Presenting as a Late-Onset Isolated Sixth Nerve Palsy: A Case Report and a Brief Review of Subtypes of Myasthenia Gravis. 62
34934570 2021
349
COVID-19-associated rhino-orbital-cerebral mucormycosis: A systematic review, meta-analysis, and meta-regression analysis. 62
34975140 2021
350
An extremely rare case: Transorbital penetrating intracranial injury by wooden foreign body. Case report. 62
34712477 2021
351
Rare case of chemotherapy-refractory metastatic vaginal squamous cell carcinoma with complete response to concurrent pembrolizumab and radiotherapy- case report and literature review. 62
34926759 2021
352
Preseptal Versus Orbital Cellulitis in Children: An Observational Study. 62
34636796 2021
353
Immune-mediated ophthalmoparesis with anti-GD1a antibodies. 62
34794976 2021
354
Natural History of Polymerase Gamma-Related Ataxia. 62
34288125 2021
355
Microsurgical Resection of a Parasellar Meningioma Invading the Cavernous Sinus, Bone, and Optic Canal: 2-Dimensional Operative Video. 62
34510204 2021
356
Nystagmus: Diagnosis, Topographic Anatomical Localization and Therapy. 62
34784642 2021
357
Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO. 62
34189666 2021
358
Technique to "Trap" a Segment of the Middle Meningeal Artery for Embolization of a Carotid Cavernous Fistula: 2-Dimensional Operative Video. 62
34332506 2021
359
Long-term safety of gamma knife radiosurgery (SRS) for acromegaly. 62
34041661 2021
360
From left to right: an unusual presentation of Tolosa-Hunt syndrome with bilateral eye involvement. 62
34695104 2021
361
Case Report: Bilateral Cranial Nerve VI Palsy in Miller Fisher Syndrome. 62
34678835 2021
362
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations. 62
34500365 2021
363
A unique case of Miller Fisher-Guillain-Barré overlap syndrome in a liver transplant recipient. 62
34550544 2021
364
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family. 62
34828254 2021
365
Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers. 62
34681740 2021
366
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children. 62
34827576 2021
367
Sphenoid sinus mucocele causing ptosis with pupil-spared ophthalmoplegia: a hint on carotid artery doppler ultrasound. 62
34623197 2021
368
Painful ophthalmoplegia in a patient with a history of marginal zone lymphoma. 62
34617167 2021
369
[Orientation disorder, ophthalmoplegia and ataxia in a 48-year-old male]. 62
34170345 2021
370
Transient Bilateral Ophthalmoplegia: A Case of a Forgotten Anesthetic Medication Effect. 62
34804664 2021
371
Growth Retardation in the Course of Fanconi Syndrome Caused by the 4977-bp Mitochondrial DNA Deletion: A Case Report. 62
34682152 2021
372
Wall-Eyed Monocular Inter-Nuclear Ophthalmoplegia (WEMINO) Syndrome, A Rare Decisive Manifestation Of An Isolated Unilateral Pontine Stroke. 62
35124934 2021
373
Complete ophthalmoplegia secondary to idiopathic intracranial hypertension managed successfully with dural sinus stenting: A case and systematic review. 62
34560385 2021
374
Midbrain infarction in inherited protein S deficiency: a rare association. 62
34667051 2021
375
Visual Disturbances in a Grave's Disease Patient After Sleeve Gastrectomy. 62
34995426 2021
376
Pituitary Apoplexy Following Severe Diabetic Ketoacidosis, with Two Uncommon Complications of Supraventricular Tachycardia and Acute Limb Ischemia, in a Patient with Neglected Pituitary Adenoma and Undiagnosed Diabetes Mellitus: A Rare Clinical Association. 62
35071097 2021
377
Acute Bilateral Blindness in the Setting of Sudden Onset of Bilateral Proptosis and Ophthalmoplegia: A Case Report With Literature Review. 62
34840887 2021
378
A Meta-Analysis of Traumatic Orbital Apex Syndrome and the Effectiveness of Surgical and Clinical Treatments. 62
33770036 2021
379
Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications. 62
33610586 2021
380
Ophthalmoplegia associated with anti-GQ1b antibodies: case report and review. 62
34493154 2021
381
Anesthetic Management in Double-Trouble Kearns-Sayre Syndrome and Hereditary Neuropathy Is Feasible but Delicate. 62
34529596 2021
382
Pediatrics COVID-19 and neurological manifestations: Single tertiary centre experience. 62
34307923 2021
383
Complete Bilateral Ophthalmoplegia Due to a Strategic Midbrain Infarct. 62
35002145 2021
384
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions. 62
34419324 2021
385
Wall eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome as a false localising sign in intracranial haemorrhage due to snake bite. 62
34521743 2021
386
Internuclear Ophthalmoplegia Due to Cryptococcal Meningitis. 62
34629396 2021
387
Internuclear Ophthalmoplegia in a Child With Deficiency of Adenosine Deaminase 2. 62
34629408 2021
388
Primary intracranial aggressive fibromatosis arising in sella turcica: illustrative case. 62
35855410 2021
389
Pathological findings of hypertrophic pachymeningitis associated with eosinophilic granulomatosis with polyangiitis. 62
34544704 2021
390
Osmotic demyelination syndrome improving after immune-modulating treatment: Case report and literature review. 62
34358802 2021
391
The demographics of Tolosa-Hunt syndrome in Qatar. 62
34355072 2021
392
Acute unilateral vision loss and bilateral cerebral infarction following cosmetic filler injection. 62
34538212 2021
393
Eight-and-a-half syndrome: a rare presentation. 62
34479896 2021
394
Tolosa-Hunt Syndrome Misdiagnosed as Surgical Complication After Frontal Balloon Sinuplasty. 62
33534326 2021
395
Bypass Surgery to Treat Giant Cavernous Carotid Artery Aneurysms. 62
33770032 2021
396
Severe Chemosis: Initial Misdiagnosis of an Emergent Complication of Acute Rhinosinusitis. 62
34256952 2021
397
An Unusual Case of Isolated Acute Aphasia in Multiple Sclerosis. 62
34722056 2021
398
Isolated Enhancement Effect is the Only MRI Finding for Wernicke's encephalopathy. 62
34747824 2021
399
Severe Demyelinating Polyneuropathy and Cranial Neuropathy During Avelumab Treatment of Metastatic Merkel Cell Carcinoma. 62
34238783 2021
400
Treatment of direct carotid-cavernous fistula with Willis covered stent with midterm follow-up. 62
34517922 2021
401
Infectious ophthalmoplegias. 62
34082150 2021
402
An Unusual Presentation of Retrobulbar Cavernous Hemangioma in a Young Woman. 62
34603884 2021
403
Pituitary apoplexy induced by gonadotropin-releasing hormone (GnRH) agonist administration for treatment of prostate cancer: a systematic review. 62
34156518 2021
404
Recurrent pituitary apoplexy in pregnancy. 62
34380676 2021
405
Miller-Fisher Syndrome Presenting as Facial Diplegia With COVID-19 Co-Infection. 62
34522538 2021
406
Effect of an oculomotor rehabilitation program for subacute brain injury patients with ophthalmoplegia: a case-control study. 62
34464538 2021
407
Kearns-Sayre Syndrome With Persistent Ventricular Tachycardia Refractory to Shocks and Medications. 62
34548978 2021
408
Mild congenital myopathy due to a novel variation in SPEG gene. 62
34466346 2021
409
Hypothalamic-pituitary fungal infection causing panhypopituitarism. 62
34305132 2021
410
Psychiatric Morbidities in Kearns Sayre Syndrome. 62
34507460 2021
411
GWAS Hits for Bilateral Convergent Strabismus with Exophthalmos in Holstein Cattle Using Imputed Sequence Level Genotypes. 62
34356055 2021
412
Bickerstaff Brainstem Encephalitis with Isolated Acute Bilateral Ophthalmoplegia: An Unusual Presentation. 62
34728976 2021
413
Wall-Eyed Monocular Internuclear Ophthalmoplegia Syndrome in Midbrain Infarction. 62
34507429 2021
414
Imaging Patterns Characterizing Mitochondrial Leukodystrophies. 62
34255734 2021
415
Wall-Eyed Bilateral Internuclear Ophthalmoplegia (WEBINO) in a Patient With a Unilateral Midbrain Infarction. 62
34190210 2021
416
[Interdisciplinary rehabilitation of a patient with associated Bickerstaff brainstem encephalitis and Guillain-Barré syndrome]. 62
34357713 2021
417
Internuclear ophthalmoplegia as an atypical presentation of lacunar stroke in CADASIL. 62
33387205 2021
418
Primary histiocytic sarcoma in the brain with renal metastasis causing internal ophthalmoparesis and external ophthalmoplegia in a Maine Coon cat. 62
34457348 2021
419
Tolosa-Hunt Syndrome: A Case Report. 62
34508416 2021
420
Myositis of an Extraocular Muscle, a Possible Drug Reaction: Histopathologic and Immunopathologic Analysis. 62
33587420 2021
421
Stiff-Eye Syndrome-Anti-GAD Ataxia Presenting with Isolated Ophthalmoplegia: A Case Report. 62
34356166 2021
422
Surgical management of ptosis in chronic progressive external ophthalmoplegia. 62
32847396 2021
423
Clinical features and outcome of Guillain-Barre syndrome in Saudi Arabia: a multicenter, retrospective study. 62
34253174 2021
424
Tolosa-Hunt Syndrome Presenting After COVID-19 Vaccination. 62
34513398 2021
425
Acute Fulminant Mucormycosis Triggered by Covid 19 Infection in a Young Patient. 62
34258246 2021
426
A Rare Case of Invasive Mucormycosis in a Diabetic Patient Treated with a Short Course of Dexamethasone. 62
34310559 2021
427
Mucormycosis in a patient with COVID-19 with uncontrolled diabetes. 62
34326123 2021
428
Orbital apex syndrome secondary to herpes zoster ophthalmicus. 62
34217477 2021
429
Eight and a Half Syndrome: A Rare Case of Pontine Infarction. 62
35996790 2021
430
Recurrent Tolosa-Hunt syndrome. 62
34386372 2021
431
Recurrent Miller Fisher: A Case Report Along With a Literature and an EMG/NCS Review. 62
34163555 2021
432
Chromium and cobalt intoxication mimicking mitochondriopathy. 62
34238384 2021
433
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Syndrome: Frequency, Clinical Features, Imaging, Histopathologic, and Molecular Genetic Findings in a Third-level Health Care Center in Mexico. 62
34190208 2021
434
Metabolic abnormality in acute stroke-like lesion and its relationship with focal cerebral blood flow in patients with MELAS: Evidence from proton MR spectroscopy and arterial spin labeling. 62
34186261 2021
435
Steroid responsive cavernous sinus syndrome due to Rosai-Dorfman disease: beyond Tolosa-Hunt syndrome - a case report. 62
34225703 2021
436
Periocular Necrotizing Fasciitis Causing Posterior Orbitopathy and Vision Loss: How to Manage? 62
34187154 2021
437
Diabetes and rhino-orbito-cerebral mucormycosis - A deadly duo. 62
34222064 2021
438
Transient oculomotor paralysis after cerebral angiography: A case report. 62
34087911 2021
439
Old Bottle, New Wine: Diplopia Sans Proptosis as the Sole Presentation of Thyroid Orbitopathy. 62
34322340 2021
440
Rise of the phoenix: Mucormycosis in COVID-19 times. 62
34011742 2021
441
Successful treatment of Rhizopus arrhizus rhino-orbital-cerebral mucormycosis with isavuconazole salvage therapy following extensive debridement. 62
33816097 2021
442
Orbital infarction syndrome following hyaluronic acid filler rhinoplasty. 62
33842735 2021
443
Orbital infarction syndrome secondary to rhino-orbital mucormycosis in a case of COVID-19: Clinico-radiological features. 62
34011758 2021
444
Miller Fisher Syndrome and Boomerang Sign: A Rare Presentation of Typhoid Fever. 62
34249538 2021
445
Ocular Manifestations of Miller Fisher Syndrome: a Case Report. 62
34483456 2021
446
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses. 62
32349064 2021
447
A Patient With Kearns Sayre Syndrome and Charcot-Marie-Tooth for Supraventricular Tachycardia Ablation: A Case Report. 62
34081063 2021
448
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients. 62
33717984 2021
449
The role of thymectomy in myasthenia gravis: A programmatic approach to thymectomy and perioperative management of myasthenia gravis. 62
33579606 2021
450
Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death? 62
33336258 2021
451
On clinical findings of Bickerstaff's brainstem encephalitis in childhood. 62
34258953 2021
452
Primary isolated amyloidosis in the extraocular muscle as a rare cause of ophthalmoplegia: A case report and literature review. 62
33732950 2021
453
Exotropic bilateral internuclear ophthalmoplegia following a superior cerebellar artery aneurysm clipping. 62
33080178 2021
454
Involvement of the cardiac conduction system in Kearns-Sayre syndrome is progressive. 62
33693594 2021
455
Involvement of the cardiac conduction system in Kearns-Sayre syndrome is progressive: Authors' reply. 62
33982081 2021
456
Medical and surgical treatment of rhino-orbital-cerebral mucormycosis in a child with leukemia. 62
34095606 2021
457
The arrhythmic risk in Kearns-Sayre syndrome: still many questions unanswered-Authors' reply. 62
33880526 2021
458
The arrhythmic risk in Kearns-Sayre syndrome: still many questions unanswered. 62
33880515 2021
459
Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease. 62
33869891 2021
460
SUCLA 2 deficiency and mitochondrial cytopathy-Do we have a safe anaesthesia plan yet? 62
34211204 2021
461
Generation of human induced pluripotent stem cell (hiPSC) line UOMi005-A from PBMCs of a patient with Kearns-Sayre syndrome. 62
33756177 2021
462
Human induced pluripotent stem cell (hiPSC) line UOMi006-A derived from PBMCs of a patient with Kearns-Sayre syndrome. 62
33901817 2021
463
MRI topography of lesions related to internuclear ophthalmoplegia in patients with multiple sclerosis or ischemic stroke. 62
33793026 2021
464
A model for interrogating the clinico-radiological paradox in multiple sclerosis: Internuclear ophthalmoplegia. 62
33426786 2021
465
Bickerstaff brainstem encephalitis with Guillain-Barré syndrome overlap following chlamydia infection. 62
34031085 2021
466
Evolving resting head tremor in parkinsonism: Clinicopathological study of a case. 62
33780872 2021
467
Severe Bilateral Photophobia and Unilateral Abducens Nerve Palsy: An Unusual Presentation of Herpes Zoster Ophthalmicus. 62
34248589 2021
468
[A case of Fisher syndrome presented by rapidly progressing bilateral palatoplegia after cytomegalovirus infection]. 62
33867411 2021
469
Miller Fisher syndrome associated with COVID-19: an up-to-date systematic review. 62
33677662 2021
470
Ocular ischaemic syndrome following coil embolisation for direct carotid cavernous fistula. 62
34045204 2021
471
The clinical spectrum of periorbital vascular complications after facial injection. 62
33615645 2021
472
Recurrent Amaurosis Fugax Secondary to Tolosa-Hunt Syndrome: A Case Report and Review of Phenotypes and Pathology. 62
34221749 2021
473
[Retrobulbar Haematoma - a Complication that May Impair Vision]. 62
31416097 2021
474
Orbital non-HIV immune reconstitution inflammatory syndrome after cytapheresis. 62
32312094 2021
475
Pituitary apoplexy and associated cranial nerve palsies secondary to bleeding caused by immune thrombocytopaenia in a patient with known pituitary macroadenoma. 62
34059534 2021
476
A Rare Case of Statin-Induced Diplopia: An Often-Overlooked but Reported Side Effect. 62
34159019 2021
477
Hypertrophic cranial pachymeningitis and orbital apex syndrome secondary to infection of the eye: illustrative case. 62
35854865 2021
478
A Case of Miller-Fisher Syndrome with Syndrome of Inappropriate Secretion of Antidiuretic Hormone. 62
34248573 2021
479
[Advances in iatrogenic eye complications caused by facial cosmetic injections]. 62
33915645 2021
480
A Posttraumatic Dilated, Proptotic Eye Does Not Always Need a Lateral Canthotomy! A Review of Superior Orbital Fissure Syndrome for Emergency Physicians. 62
33478843 2021
481
Ophthalmic artery occlusion due to orbital compartment syndrome after a frontotemporal craniotomy. 62
34318304 2021
482
High-resolution MR imaging of cranial neuropathy in patients with anti-GQ1b antibody syndrome. 62
33677393 2021
483
Restrictive diet in a patient with irritable bowel syndrome leading to Wernicke encephalopathy. 62
33879093 2021
484
Unusually prolonged neuromuscular weakness caused by krait (Bungarus caeruleus) bite: Two case reports. 62
33497743 2021
485
Orbito-scleral-sinus invasion of basal cell carcinoma in an immunocompromised patient on vismodegib. 62
32283962 2021
486
COVID-19 triggering mucormycosis in a susceptible patient: a new phenomenon in the developing world? 62
33906877 2021
487
Radiological and clinical outcomes of pituitary apoplexy: comparison of conservative management versus early surgical intervention. 62
33930863 2021
488
Bilateral persistent ophthalmoplegia in a patient with migraine: persistent migraine aura without infarction? 62
33827884 2021
489
The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients. 62
33930928 2021
490
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. 62
33389762 2021
491
Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients. 62
31773638 2021
492
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. 62
33251926 2021
493
Rare Clinical Presentation in a Case of Pediatric Guillain-Barré Syndrome and Rehabilitation Outcome. 62
33927538 2021
494
Caudal paramedian midbrain infarction: a clinical study of imaging, clinical features and stroke mechanisms. 62
31456122 2021
495
Transient internal ophthalmoplegia with anisocoria and loss of accommodation after inferior oblique recession in a 5-year-old. 62
33002415 2021
496
Internuclear ophthalmoplegia as a presenting feature in a COVID-19-positive patient. 62
33849880 2021
497
Wernicke-Korsakoff Syndrome in Hyperemesis Gravidarum: A Case Report and Literature Review. 62
33791058 2021
498
A Post-Infectious Steroid-Responsive Brainstem Lesion Associated With COVID-19. 62
33791060 2021
499
Anesthetic management of Kearns-Sayre syndrome. Case report. 62
33160688 2021
500
Recurrent Chordoma Resection in the Advanced Multimodality Image Guided Operating Suite: 2-Dimensional Operative Video. 62
33855456 2021
501
Hemisensory loss in myasthenia gravis. 62
33731400 2021
502
Scleral Lenses Versus Surgery for Ptosis in Progressive External Ophthalmoplegia Plus Respectively Kearns-Sayre Syndrome. 62
32868565 2021
503
Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome. 62
33807701 2021
504
The Use of Systemic Steroids in the Treatment of Herpes Zoster Ophthalmicus-Related Ophthalmoplegia: Case Report and Case Meta-analysis. 62
33186598 2021
505
Unilateral Facial Paralysis and Ophthalmoplegia Caused by Lower Lip Carcinoma: A Case Report. 62
33893789 2021
506
Intraocular Migration of Porous Polyethylene Malar Implant Used for Treacher Collins Eyelid Reconstruction. 62
32732546 2021
507
Mitophagy: An Emerging Target in Ocular Pathology. 62
33724294 2021
508
Tolosa-Hunt syndrome as initial presentation of Systemic Lupus Erythematosus. 62
34549400 2021
509
Central nystagmus in progressive supranuclear palsy: A neglected clinical feature? 62
33517029 2021
510
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother. 62
33592356 2021
511
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses: Response. 62
32868563 2021
512
Strabismus in chronic progressive external ophthalmoplegia. 62
33191655 2021
513
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes. 62
33486010 2021
514
Visual loss from dermal fillers. 62
31187644 2021
515
Endoscopic Endonasal Approach to Multilobular Giant Pituitary Adenoma with Cavernous Sinus Invasion and Petroclival Extension. 62
33220473 2021
516
The Clinical and Imaging Profile of Skew Deviation: A Study of 157 Cases. 62
32235234 2021
517
MITOL-dependent ubiquitylation negatively regulates the entry of PolγA into mitochondria. 62
33657094 2021
518
Cavernous Sinus Thrombosis related to Orbital Cellulitis Serious Complication to Prevent: a case report and literature review. 62
33532066 2021
519
Surgery as a safe and effective treatment option for spheno-orbital meningioma: a systematic review and meta-analysis of surgical techniques and outcomes. 62
32602264 2021
520
Paediatric periorbital cellulitis: A 10-year retrospective case series review. 62
32987452 2021
521
Complete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt. 62
33127537 2021
522
An incomplete form of anti-ganglioside antibody-positive Miller Fisher syndrome after an Epstein-Barr virus infection: A case report. 62
33592894 2021
523
Diagnosis and Treatment of Multiple Sclerosis: A Review. 62
33620411 2021
524
POLRMT mutations impair mitochondrial transcription causing neurological disease. 62
33602924 2021
525
Bilateral Ptosis and Ophthalmoplegia in a Young Man. 62
33270091 2021
526
A rare case of unilateral Cogan's anterior internuclear ophthalmoplegia, upgaze palsy and ataxia caused by dorsal tegmentum lesion at pontomesencephalic junction. 62
33632162 2021
527
Rod bipolar cell dysfunction in POLG retinopathy. 62
32567010 2021
528
Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies. 62
35186005 2021
529
Orbital apex syndrome secondary to an orbital sarcoma in a dog. 62
33390595 2021
530
Sarcoidosis of the pineal region, dorsal mesencephalon, and periaqueductal region: Case report and systematic review. 62
34466394 2021
531
Ocular Immune-Related Adverse Events Associated With Immune Checkpoint Inhibitors in Lung Cancer. 62
34504488 2021
532
Progressive external ophthalmoplegia associated with novel MT-TN mutations. 62
32869280 2021
533
[A case of advanced pancreatic cancer with oculomotor nerve palsy caused by herpes zoster after introduction of gemcitabine plus nab-paclitaxel]. 62
33431754 2021
534
Radiological Characteristics of Extraocular Muscles in Myasthenia Gravis Patients with Ocular Manifestations: A Case-Control Study. 62
34103891 2021
535
Facial Nerve Palsy with Total Ophthalmoplegia; a Novel Presentation of Fungal Invasion. 62
34405152 2021
536
Spinal cord and heart involvement in Kearns-Sayre syndrome: which link? 62
33026462 2021
537
Neuro-ophthalmic manifestations of mitochondrial disorders and their management. 62
33767954 2021
538
Kearns Sayre syndrome: a rare etiology of complete atrioventricular block in children (case report). 62
34970396 2021
539
[Internal ophthalmoplegia after retinal laser photocoagulation]. 62
34965076 2021
540
Sensory motor ataxic neuropathy associated dysarthria and ophthalmoplegia "SMANDO" in a consanguineous Moroccan patient with new POLG gene homozygote mutation. 62
32650990 2021
541
Altered Mental Status, Ataxia, and Ophthalmoplegia in an 8-year-old Girl. 62
33386369 2021
542
An unusual neurologic presentation of pediatric neuroinvasive West Nile virus infection: ophthalmoplegia. 62
34738373 2021
543
Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion. 62
34777884 2021
544
Recurrent Unilateral Ophthalmoplegia in a 5-year-old. 62
33386362 2021
545
Ophthalmoplegia and cranial nerve deficits in an adolescent with headache. 62
34178348 2021
546
Atypical presentations of idiopathic intracranial hypertension. 62
33767953 2021
547
An alternative mechanism of crossed vertical gaze palsy in unilateral mesodiencephalic infarction. 62
33221135 2021
548
Paraneoplastic Ophthalmoplegia as the Presenting Sign of Paediatric Glioblastoma Multiforme: A Case Report. 62
34720271 2021
549
Case Report: Early-Onset Guillain-Barre Syndrome Mimicking Stroke. 62
33679573 2021
550
Miller Fisher Variant of Guillain-Barré Syndrome Triggered by Ventilator-Associated Pneumonia. 62
34045904 2021
551
Reply to: "Is the spinal cord truly affected in half of the patients with Kearns-Sayre syndrome?" and "Spinal cord and heart involvement in Kearns Sayre Syndrome: which link?" 62
33145628 2021
552
Rare causes of anisocoria: Ipratropium bromide and Angel's trumpet. 62
35284801 2021
553
Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study. 62
33024021 2021
554
A Case Report of Wernicke's Encephalopathy Associated With Schizophrenia. 62
34079482 2021
555
Bilateral vocal cord paralysis in Miller Fisher syndrome/Guillain-Barre overlap syndrome and a review of previous case series. 62
33504540 2021
556
Case Report: A Patient Diagnosed With Miller Fisher Syndrome and Myasthenia Gravis at the Same Time. 62
35197918 2021
557
Non-Hodgkin Lymphoma Causing Hypopituitarism Can Imaging Help Diagnosis and Management? 62
35059332 2021
558
Mitochondrial Neurogastrointestinal Encephalopathy Disease: A Rare Disease Diagnosed in Siblings with Double Vision. 62
33976678 2021
559
Case Report: The Neuromusclar Triad of Immune Checkpoint Inhibitors: A Case Report of Myositis, Myocarditis, and Myasthenia Gravis Overlap Following Toripalimab Treatment. 62
34485412 2021
560
Progressive External Ophthalmoplegia Diagnosed in the Glaucoma Clinic: The Importance of a Complete Clinical Examination. 62
34992483 2021
561
Rhino-orbital Mucormycosis as a complication of severe COVID-19 pneumonia. 62
34603963 2021
562
Pembrolizumab-Induced Isolated Cranial Neuropathy: A Rare Case Report and Review of Literature. 62
34046006 2021
563
A case series of post COVID-19 mucormycosis-a neurological prospective. 62
34335016 2021
564
Invasive fungal disease misdiagnosed as tumour in association with orbital apex syndrome. 62
33472802 2021
565
Case Report: A 62-Year-Old Woman With Contrast-Induced Encephalopathy Caused by Embolization of Intracranial Aneurysm. 62
34350209 2021
566
Neurologic Manifestations of the World Health Organization's List of Pandemic and Epidemic Diseases. 62
33692745 2021
567
Successful long-term therapy of mucormycosis with isavuconazole. 62
34732994 2021
568
Tolosa-Hunt syndrome relapse during pregnancy following chronic intake of combined oral contraceptives. 62
33462037 2021
569
Bilateral cavernous sinus and left dural sigmoid sinus thrombosis associated with extreme exertion: a case report. 62
33470347 2021
570
Recurrent painful ophthalmoplegic neuropathy revealing oculomotor nerve schwannoma. 62
35261021 2021
571
Intermittent Vertical Diplopia as a Rare Manifestation of a Rare Cerebral Infarct: Artery of Percheron Ischemic Infarct and Sidelights on the Phenotypic Variability of Thalamic Ocular Disorders. 62
33564507 2021
572
Clinical Outcomes and Complications of Pituitary Blastoma. 62
33236116 2021
573
Rhino-Orbito-Cerebral-Mucormycosis During the COVID-19 Second Wave in 2021 - A Preliminary Report from a Single Hospital. 62
34429582 2021
574
[Unilateral exophthalmia revealing large aneurysm of the internal carotid: a case report]. 62
34603577 2021
575
A Young Child with Recurrent Episodes of Headaches and Vision Loss: Diagnostic Clues? 62
34316317 2021
576
Multiple Cranial Nerve Palsies in a Pediatric Case of Lemierre's Syndrome due to Streptococcus viridans. 62
34745672 2021
577
Simultaneous new onset of neuromyelitis optica spectrum disorder in identical twins. 62
34557671 2021
578
Use of dual-energy computed tomography post endovascular treatment of cerebral aneurysm. 62
34221556 2021
579
A New Report of Combined Central and Peripheral Demyelination: A Case Report. 62
34867717 2021
580
Magnetic resonance imaging of the hypothalamo-pituitary region. 62
34225987 2021
581
Non-Paralytic Pontine Exotropia as a Predominant Sign of Brainstem Infarction - A Case Report. 62
34483409 2021
582
[Progressive supranuclear paralysis with levodopa-induced dyskinesia]. 62
33834727 2021
583
Clinical Characterization of Anti-GQ1b Antibody Syndrome in Childhood. 62
33996691 2021
584
Case Report: Novel SLC9A6 Splicing Variant in a Chinese Boy With Christianson Syndrome With Electrical Status Epilepticus During Sleep. 62
35095740 2021
585
Mitochondrial neuropathy and neurogenic features in mitochondrial myopathy. 62
33220502 2021
586
[Orbital Compartment Syndrome Perhaps Secondary to Intra-Orbital Fluid Retention and Orbital/Palpebral Emphysema Following Frontotemporal Craniotomy for an Unruptured Cerebral Aneurysm:A Case Report]. 62
33353875 2020
587
Acute binocular diplopia: peripheral or central? 62
32797299 2020
588
Epidemiology, clinical features, diagnosis and treatment of cerebral mucormycosis in diabetic patients: A systematic review of case reports and case series. 62
32965744 2020
589
Pediatric Miller Fisher Syndrome; Characteristic Presentation and Comparison with Adult Miller Fisher Syndrome. 62
33287444 2020
590
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. 62
33396418 2020
591
[Orbital myositis, a cause of pediatric painful ophthalmoplegia]. 62
33861830 2020
592
Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies. 62
33352713 2020
593
Septic cavernous sinus thrombosis secondary to halo vest pin site infection. 62
35141604 2020
594
[Co-existence of Guillain-Barré syndrome and Behcet syndrome: A case report]. 62
33331329 2020
595
Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study. 62
33000314 2020
596
Isolated Pulvinar/Hockey Stick Sign in Nonalcoholic Wernicke's Encephalopathy. 62
33380716 2020
597
A disabling case of chronic external ophthalmoplegia cleverly overcomed. 62
31791807 2020
598
Painful ophthalmoplegia syndrome, beyond Tolosa-Hunt syndrome. A case series. 62
33384172 2020
599
Case Report: Ocular Tilt Reaction with Internuclear Ophthalmoplegia and Multiple Cranial Nerve Palsies. 62
33252541 2020
600
Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism. 62
32537709 2020
601
Proposed modified diagnostic criteria for recurrent painful ophthalmoplegic neuropathy: Five case reports and literature review. 62
32722935 2020
602
Etiology, localization of the lesion, and prognosis for patients firstly diagnosed in ophthalmology department with oculomotor nerve palsy. 62
33472998 2020
603
Myasthenia gravis presenting as bilateral pseudointernuclear ophthalmoplegia in a patient with an incidental prolactinoma. 62
33334740 2020
604
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature. 62
33190635 2020
605
A Case Report of Wall-Eyed Bilateral Internuclear Ophthalmoplegia with Bilateral Facial Palsy. 62
33066880 2020
606
Bilateral Poorly Differentiated Adenocarcinoma of the Lacrimal Gland With Tumor Regression After Treatment With Pembrolizumab. 62
32282640 2020
607
Images of the month: Cavernous sinus venous thrombosis secondary to Streptococcus milleri maxillary sinusitis: An unusual cause of diplopia and headache. 62
33199337 2020
608
Nutritional issues in a diabetic patient with Kearns-Sayre syndrome. 62
33434157 2020
609
Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia. 62
33030289 2020
610
X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant. 62
32805447 2020
611
Isolated Ophthalmoplegia Following Filler Injections to the Upper Face. 62
32282643 2020
612
Recurrent alternating ophthalmoplegia with ipsilateral headache: unusual but possible manifestation of recurrent painful ophthalmoplegic neuropathy. 62
32504277 2020
613
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. 62
33239111 2020
614
Paediatric Bickerstaff brainstem encephalitis: A rare case report. 62
33341860 2020
615
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia. 62
33121830 2020
616
CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell-targeted therapies. 62
32959046 2020
617
Diffusion Tensor Imaging Tractography Detecting Isolated Oculomotor Paralysis Caused by Pituitary Apoplexy. 62
33181723 2020
618
Miller Fisher Syndrome Presenting to a Rural South Dakota Hospital. 62
33264524 2020
619
Diplopia After Coronary Revascularization. 62
33135624 2020
620
Transient blindness associated with mild encephalitis/encephalopathy with a reversible splenial lesion (MERS): a case report and review of literature. 62
33046117 2020
621
Brainstem Stroke Presenting as Wake-Up Diplopia in a Patient With an Incomplete Circle of Willis. 62
33240710 2020
622
A rare case of pediatric Tolosa-Hunt syndrome. 62
32889049 2020
623
Recurrent Painful Ophthalmoplegic Neuropathy: Migraine, Neuralgia, or Something Else? 62
33290443 2020
624
Extraocular Muscle Reveals Selective Vulnerability of Type IIB Fibers to Respiratory Chain Defects Induced by Mitochondrial DNA Alterations. 62
33057669 2020
625
Atypical Variant of Guillain Barre Syndrome in a Patient with COVID-19. 62
33200094 2020
626
Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study. 62
32700106 2020
627
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions. 62
32652806 2020
628
Internuclear Ophthalmoplegia as the First Manifestation of Pediatric-Onset Multiple Sclerosis and Concurrent Lyme Disease. 62
33027244 2020
629
Clinical Reasoning: A 64-year-old woman with progressive leg weakness and ophthalmoplegia. 62
32680944 2020
630
A Very Rapidly Growing, Spontaneous, Internal Carotid Artery Dissecting Aneurysm Triggering Simultaneous Complete Ophthalmoplegia and a Cerebral Infarct. 62
32679357 2020
631
Rare case of hepatocellular carcinoma metastasising to the pituitary and cavernous sinus causing panhypopituitarism and bilateral ophthalmoplegia. 62
33109695 2020
632
Re: "Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome" by Guo et al. 62
32876487 2020
633
Is the spinal cord truly affected in half of the patients with Kearns-Sayre syndrome? 62
32783098 2020
634
Response to Finsterer re: "Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome". 62
32986506 2020
635
Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders. 62
33049060 2020
636
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions. 62
33105723 2020
637
Retinoschisis associated with Kearns-Sayre syndrome. 62
32787478 2020
638
Clinical, MRI and 18F-FDG-PET/CT analysis of progressive supranuclear palsy. 62
32651138 2020
639
Complete bilateral ophthalmoplegia in malignant intracranial hypertension in a child. 62
33081535 2020
640
Immune Checkpoint Inhibitor-Mediated Myasthenia Gravis. 62
32565169 2020
641
Trochlear nerve palsy and contralateral internuclear ophthalmoplegia: an unusual crossed syndrome. 62
31769084 2020
642
Complex strabismus: a case report of hypoplasia of the third cranial nerve with an unusual clinical presentation. 62
32785440 2020
643
Schimke XLID syndrome results from a deletion in BCAP31. 62
32681719 2020
644
Resection of Invasive Sphenoorbital and Cavernous Sinus Meningioma via Frontotemporal Craniotomy. 62
32416238 2020
645
Steroid Responsive Acute Isolated Ophthalmoplegia: A Rare Presentation of Anti-Gq1b Antibodies Syndrome. 62
33623295 2020
646
Remote Pontine Hemorrhage After Left Frontal Lobe Meningioma Resection Presenting as Bilateral Internuclear Ophthalmoplegia. 62
31972712 2020
647
Development of a clinical scale for assessment of patients with diffuse intrinsic pontine glioma (DIPG) receiving experimental therapy: the PONScore. 62
32902768 2020
648
Neuro-Ophthalmic Manifestations of Intracranial Malignancies. 62
32282510 2020
649
Comprehensive review of Wernicke encephalopathy: pathophysiology, clinical symptoms and imaging findings. 62
32390125 2020
650
PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review. 62
32514400 2020
651
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. 62
32161153 2020
652
Bickerstaff's brainstem encephalitis associated with anti-GM1 and anti-GD1a antibodies. 62
32948528 2020
653
I can't hear you, you said I had what?: A case report and literature review. 62
33235679 2020
654
Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE). 62
32980811 2020
655
Rhino-orbital-cerebral mucormycosis (ROCM) and associated cerebritis treated with adjuvant retrobulbar amphotericin B. 62
32551404 2020
656
[Tolosa-Hunt Syndrome; clinical and brain MRI features and treatment]. 62
32789829 2020
657
Using urine to diagnose large-scale mtDNA deletions in adult patients. 62
32634300 2020
658
Allergic fungal sinusitis masquerading as cavernous sinus thrombosis. 62
32855797 2020
659
Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports. 62
32838736 2020
660
Wernekink commissure syndrome secondary to a rare 'V'-shaped pure midbrain infarction: a case report and review of the literature. 62
31858860 2020
661
A Case Report of Acute Motor and Sensory Polyneuropathy as the Presenting Symptom of SARS-CoV-2. 62
32926684 2020
662
Clinical, neuroelectrophysiological and muscular pathological analysis of chronic progressive external ophthalmoplegia. 62
32742407 2020
663
Fulminant myocarditis with myositis of ocular and respiratory muscles. 62
33132442 2020
664
A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases. 62
32870233 2020
665
A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms. 62
31348995 2020
666
A Case of Wernicke's Encephalopathy in a Pregnant Woman With a History of Sleeve Gastrectomy. 62
32983673 2020
667
From psychosis to Wernicke encephalopathy: a case of hunger strike in prison. 62
32589087 2020
668
Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome. 62
32609007 2020
669
Hemicentral Retinal Artery Occlusion: A Rare Complication of Orbital Cellulitis. 62
32816042 2020
670
Acute ophthalmoplegia in a patient with anti-GQ1b antibody and chronic facial diplegia. 62
32646933 2020
671
Wall-eyed bilateral internuclear ophthalmoplegia: A rare presentation of central nervous system cryptococcosis. 62
32361333 2020
672
COVID-19-Associated Miller Fisher Syndrome: MRI Findings. 62
32467190 2020
673
Treatment of idiopathic orbital myositis with frequent relapses: First case with tacrolimus and review of literature. 62
32668345 2020
674
Clinicogenetical Variants of Progressive External Ophthalmoplegia - An Especial Review of Non-ophthalmic Manifestations. 62
32859811 2020
675
MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report. 62
32600829 2020
676
Case 279: Central-Variant Posterior Reversible Encephalopathy Syndrome. 62
32539624 2020
677
Delayed Orbital Apex Syndrome in the Post-Reconstructed Orbit. 62
32310889 2020
678
Wernicke's Encephalopathy: Typical Disease with an Atypical Clinicoradiological Manifestation. 62
32753819 2020
679
[A Case of Transorbital Penetrating Cavernous Sinus Injury by a Bamboo Stick Treated by Craniotomy in the Hybrid Operating Room]. 62
32694230 2020
680
Orbital Apex Syndrome: A Clinico-anatomical Diagnosis. 62
33531965 2020
681
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. 62
32391929 2020
682
Orbital Compartment Syndrome without Evidence of Orbital Mass or Ocular Compression After Pterional Craniotomy for Removal of Meningioma of the Frontal Lobe: A Case Report and Literature Review. 62
32344145 2020
683
Relapsing Bickerstaff Brainstem Encephalitis After Autologous Stem Cell Transplant. 62
32453098 2020
684
Case of Bickerstaff encephalitis with positive glutamic acid decarboxylase antibodies. 62
32601140 2020
685
[A case of bilateral medial medullary and left tegmentum of pontine infarction in whom DSA-MR fusion imaging identified infarct-relevant arteries]. 62
32435047 2020
686
Transvenous embolization through the ipsilateral deep facial vein: A novel approach route for treatment of a cavernous sinus dural arteriovenous fistula. 62
32382360 2020
687
Clinical patterns of third nerve palsies in diabetic patients. 62
33479970 2020
688
Increased intra-mitochondrial lipofuscin aggregates with spherical dense body formation in mitochondrial myopathy. 62
32272361 2020
689
Neuroimaging of septo-optic dysplasia-plus with midbrain hypoplasia and ophthalmoplegia. 62
32195380 2020
690
Anti-Ri-associated paraneoplastic ophthalmoplegia-ataxia syndrome in a woman with breast cancer: a case report and review of the literature. 62
32527295 2020
691
Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations. 62
32453097 2020
692
Ossifying fibroma in the maxilla and orbital floor: report of an uncommon case. 62
32606282 2020
693
FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders. 62
32307925 2020
694
The heart in m.3243A>G carriers. 62
30128910 2020
695
New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies. 62
32655342 2020
696
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy. 62
32413282 2020
697
Paroxysmal Adduction After Internuclear Ophthalmoplegia. 62
31834196 2020
698
Ophthalmoplegia with skin necrosis after a hyaluronic acid filler injection. 62
32281282 2020
699
Acute onset internuclear ophthalmoplegia responsive to treatment with intravenous alteplase. 62
32438384 2020
700
Wall-Eyed Bilateral Internuclear Ophthalmoplegia by Ischemic Stroke: Case Report and Literature Review. 62
32358467 2020
701
Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations. 62
32242214 2020
702
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019. 62
32381029 2020
703
[Double vision and a wrong track]. 62
32422672 2020
704
Immune checkpoint inhibitors (ICIs)-related ocular myositis. 62
32387281 2020
705
Vertebrobasilar ischemia (VBI) related neuro-ophthalmic syndromes after routine activities involving hyperextension or rotation of the neck (hairdresser syndrome). 62
31570813 2020
706
Video-oculography in multiple sclerosis: Links between oculomotor disorders and brain magnetic resonance imaging (MRI). 62
32028119 2020
707
Atypical case of Miller-Fisher syndrome presenting with severe dysphagia and weight loss. 62
32467120 2020
708
PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India. 62
31993930 2020
709
Neuro-ophthalmological manifestations as complication of an infection with Mycoplasma pneumoniae and subsequent development of disseminated acute encephalitis. 62
32147128 2020
710
[Ocular movement and nystagmus: basics and clinical diagnosis]. 62
32157336 2020
711
Use of methotrexate in the management of recurrent Tolosa-Hunt syndrome: Two case reports. 62
32332660 2020
712
Unruptured giant intracavernous aneurysms untolerate internal carotid artery occlusion test: Untreated and treated with flow-diversion. 62
31948343 2020
713
Clinical analysis of 4 cases of Wernekink commissure syndrome. 62
32879074 2020
714
Isolated Internal Ophthalmoplegia Secondary to Herpes Zoster Ophthalmicus: A Rare Case Report. 62
32395161 2020
715
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy. 62
31769567 2020
716
Novel POLG mutation in a patient with early-onset parkinsonism, progressive external ophthalmoplegia and optic atrophy. 62
31613174 2020
717
Facial Dysmorphism, Hirsutism, and Failure to Thrive as Manifestation of Leigh Syndrome in a Child with SURF1 Mutation. 62
33042241 2020
718
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant. 62
32305257 2020
719
Tolosa-Hunt Syndrome: A Non-Classical Presentation of a Rare Cause of Unilateral Headache and Painful Ophthalmoplegia. 62
32362975 2020
720
Rapid same-day resolution of internuclear ophthalmoplegia in Wernicke encephalopathy following parenteral high dose thiamine. 62
31712022 2020
721
WEBINO syndrome (wall-eyed bilateral internuclear ophthalmoplegia) secondary to ischemic stroke, about a case. 62
32088083 2020
722
Internuclear Ophthalmoplegia as the Presenting Sign of Giant Cell Arteritis. 62
31609838 2020
723
Total external ophthalmoplegia and Sjögren's syndrome. 62
32301676 2020
724
Burkitt lymphoma masquerading as Tolosa-Hunt syndrome in an HIV-seropositive patient. 62
31018683 2020
725
Neurovascular Behçet's Disease Presenting with Cavernous Sinus Thrombosis: A Rare Case of Assumed Tolosa-Hunt-Like Syndrome. 62
32637928 2020
726
Saccadic delay in multiple sclerosis: A quantitative description. 62
32065930 2020
727
Miller Fisher syndrome with early intracranial hypertension and delayed bilateral simultaneous facial nerve palsy: a case report. 62
31709869 2020
728
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report. 62
32234020 2020
729
Atypical Descending Paralysis in Miller Fisher Syndrome: A Rare Variant of Guillain-Barre Syndrome. 62
32274281 2020
730
CANOMAD syndrome with respiratory failure. 62
32364342 2020
731
Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment. 62
32914088 2020
732
Rhino-Orbital-Cerebral Mucormycosis: Battle with the Deadly Enemy. 62
32158665 2020
733
Tolosa-Hunt Syndrome: Long-Term Outcome and Role of Steroid-Sparing Agents. 62
32189862 2020
734
Gone in the blink of an eye - A Tolosa-Hunt syndrome variant. 62
31879056 2020
735
A Case of Recurrent Painful Ophthalmoplegic Neuropathy with Associated Oculomotor Nerve Tumour. 62
32076446 2020
736
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. 62
31600844 2020
737
Binocular, Accommodative and Oculomotor Alterations In Multiple Sclerosis: A Review. 62
32228341 2020
738
[Primary lymphocytic hypophysitis. Report of one case]. 62
32730504 2020
739
Miller Fisher syndrome with bilateral vocal cord paralysis: a case report. 62
32070436 2020
740
Orbital AL amyloid. 62
31020884 2020
741
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature. 62
31825167 2020
742
Reply to: Viability of diffusion tensor imaging for assessing retrochiasmatic involvement in Kearns-Sayre syndrome remains elusive. 62
31838563 2020
743
Viability of diffusion tensor imaging for assessing retro-chiasmatic involvement in Kearns-Sayre syndrome remains elusive. 62
31807840 2020
744
Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study. 62
31680196 2020
745
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia. 62
31865189 2020
746
Isolated orbital amyloidosis causing internal and external ophthalmoplegia. 62
31830573 2020
747
Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO. 62
32042919 2020
748
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders. 62
33629063 2020
749
Controversies in Ocular Myasthenia Gravis. 62
33329368 2020
750
Initial Treatment Response in Ocular Myasthenia Gravis: A Comparison Between Low and Moderate Doses of Prednisolone. 62
32801613 2020
751
Parinaud syndrome as an unusual presentation of intracranial hypotension. 62
32494377 2020
752
[Primary leptomeningeal lymphoma with oculomotor paralysis as the initial presentation]. 62
32147610 2020
753
Current Clinical Practice About Pediatric Midline Gliomas in the Scope of Molecular Era. 62
32530481 2020
754
Prevalence and Improvement of Caine-Positive Wernicke-Korsakoff Syndrome in Psychiatric Inpatient Admissions. 62
31607504 2020
755
Orbital Metastasis Secondary to Breast Cancer: A Rare Cause of Unilateral External Ophthalmoplegia. 62
34188339 2020
756
Tolosa-Hunt Syndrome: A Painful Ophthalmoplegia. 62
33204552 2020
757
Clinical Features of Painful Ophthalmoplegia with a High-Intensity Ring Appearance around the Optic Nerve on MRI: A Case Series. 62
32292612 2020
758
Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression. 62
31609081 2020
759
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D. 62
32566668 2020
760
Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome. 62
32181031 2020
761
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 62
31829048 2020
762
Pediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other. 62
31843253 2020
763
Evolving Immunologic Perspectives in Chronic Inflammatory Demyelinating Polyneuropathy. 62
32982369 2020
764
An Overlapping Case of Miller Fisher Syndrome and the Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome. 62
32133309 2020
765
Case Report: Acute Bulbar Palsy Plus Syndrome: A Guillain-Barré Syndrome Variant More Prone to Be a Subtype Than Overlap of Distinct Subtypes. 62
33329308 2020
766
Anti-GQ1b antibody syndrome presenting with visual deterioration as the initial symptom: A case report. 62
31977873 2020
767
The utility of sural-sparing pattern in the electrodiagnosis of regional subtypes of Guillain-Barré Syndrome. 62
32140628 2020
768
Miller Fisher Variant of Guillain-Barré Syndrome in a Child. 62
32435311 2020
769
Neuro-ophthalmic Complications of Immune Checkpoint Inhibitors: A Systematic Review. 62
33173368 2020
770
Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China. 62
33013660 2020
771
Hashimoto's thyroiditis associated with acute painful unilateral ophthalmoplegia. 62
31385125 2020
772
Neuromuscular Complications With SARS-COV-2 Infection: A Review. 62
33041989 2020
773
Faster Recovery of Internal Ophthalmoplegia than External Ophthalmoplegia in a Miller Fisher Variant of Guillain-Barre Syndrome. 62
32328331 2020
774
Pituitary Metastatic Composite Tumors: A Case Report with Next-Generation Sequencing and Review of the Literature. 62
32774962 2020
775
A Case of Tolosa-Hunt Syndrome With Discoid Lupus Erythematosus. 62
31839865 2020
776
Severe Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation. 62
31833892 2020
777
Neurodegenerative Diseases Associated with Mitochondrial DNA Mutations. 62
31755379 2020
778
Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia. 62
32063883 2020
779
A Case of Recurrent Painful Ophthalmoplegic Neuropathy. 62
32582004 2020
780
Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1. 62
32310184 2020
781
A Pilot Study on Serial Nerve Ultrasound in Miller Fisher Syndrome. 62
32922359 2020
782
Anti-Ganglioside Antibody-Negative Miller Fisher and AMSAN Variant Guillain-Barré Overlap Syndrome. 62
32231550 2020
783
Clinical Characteristics and Prognosis of Adult Orbital Cellulitis in a Tertiary General Hospital. 62
33520296 2020
784
Endoscopic Transethmosphenoid Optic Canal and Orbital Apex Decompression for Patients With Traumatic Orbital Apex Syndrome. 62
31652219 2020
785
Metastatic Spread to the Pituitary. 62
32101869 2020
786
Multiple cranial nerve palsies in malignant external otitis: A rare presentation of a rare condition. 62
32983891 2020
787
Orbital complication of acute ethmoiditis: A Tunisian paediatric cross sectional study. 62
31732307 2020
788
An Anatomic, Imaging, and Clinical Review of the Medial Longitudinal Fasciculus. 62
33408958 2020
789
Invasive sphenoid sinus aspergillosis mimicking sellar tumor: a report of 4 cases and systematic literature review. 62
32922939 2020
790
Total parenteral nutrition-induced Wernicke's encephalopathy after oncologic gastrointestinal surgery. 62
33336027 2020
791
Concurrent pituitary apoplexy and posterior reversible encephalopathy syndrome in a patient with end-stage renal disease on hemodialysis: A case report. 62
32000433 2020
792
Minimally Invasive Subtemporal Intradural Approach for Penetrating Orbitocranial Injury by Wooden Foreign Body Into the Lateral Wall of the Cavernous Sinus. 62
33195384 2020
793
Near Complete Recovery of Visual Acuity After Calcium Hydroxylapatite Injection-Related Vision Loss: A Case Report and Literature Review. 62
31833899 2020
794
Reappraising the Tolosa-Hunt Syndrome Diagnostic Criteria: A Case Series. 62
31681980 2020
795
An Unusual Case of Perineural Infiltration and Orbital Invasion of Squamous Cell Carcinoma Associated with Actinic Keratosis. 62
33489394 2020
796
Classical Triad and Periventricular Lesions Do Not Necessarily Indicate Wernicke's Encephalopathy: A Case Report and Review of the Literature. 62
32587564 2020
797
Isolated Superior Ophthalmic Vein Thrombosis Associated with Orbital Cellulitis: Case Report. 62
35098078 2020
798
Subgaleal hematoma evacuation in a pediatric patient: A case report and review of the literature. 62
32905325 2020
799
Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues. 62
33133144 2020
800
A Probable Case of Recurrent Bickerstaff Brainstem Encephalitis With Fulminant Course in a Pediatric Patient. 62
31876654 2020
801
[Invasive fungal brain abscess: a case report]. 62
32086907 2020
802
Calcifying pseudoneoplasm of the neuraxis: A rare case involving the oculomotor nerve. 62
32905291 2020
803
Pituitary metastasis of lung adenocarcinoma: Case report and literature review. 62
32058309 2020
804
Coiling as a Rescue Strategy for Flow Diverter Prolapse into a Giant Intracranial Aneurysm. 62
31476475 2020
805
Very late-onset mitochondrial cytopathy featuring epilepsia partialis continua and bilateral deafness: A case report. 62
32088342 2020
806
Ocular manifestations in patients with cerebrovascular accidents in India: a cross-sectional observational study. 62
31129750 2019
807
Successful treatment of pediatric Tolosa-Hunt syndrome with adalimumab. 62
31804175 2019
808
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report. 62
31856875 2019
809
Visual and Endocrine Recovery Following Conservative and Surgical Treatment of Pituitary Apoplexy: A Meta-Analysis. 62
31470146 2019
810
Predictors of the Resolution of Cavernous Sinus Syndrome Caused by Large/Giant Cavernous Carotid Aneurysms After Parent Artery Occlusion with High-Flow Bypass. 62
31442640 2019
811
Forme fruste anti-GQ1b-negative Miller Fischer syndrome masquerading as posterior circulation stroke. 62
31808458 2019
812
Bilateral central retinal/ophthalmic artery occlusion and near-complete ophthalmoplegia after bilateral lung transplant. 62
31788576 2019
813
Total external ophthalmoplegia: First clinical manifestation of Sjögren's syndrome. 62
31490084 2019
814
Eye Movement Abnormalities Are Ubiquitous in the Spinocerebellar Ataxias. 62
31175630 2019
815
Ischaemic Oculomotor Nerve Palsy Isolated to the Levator: A Case Report. 62
32165898 2019
816
Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene. 62
31843010 2019
817
The Authors' Reply: The tRNA(Ile) Variant m.4309G>A May Not Cause Kearns-Sayre Syndrome. 62
31764893 2019
818
The tRNA(Ile) Variant m.4309G≥A May Not Cause Kearns-Sayre Syndrome. 62
31517780 2019
819
Heart Transplantation in Kearns-Sayre Syndrome. 62