CMT
MCID: CHR071
MIFTS: 64

Charcot-Marie-Tooth Disease (CMT)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease

MalaCards integrated aliases for Charcot-Marie-Tooth Disease:

Name: Charcot-Marie-Tooth Disease 12 74 52 25 53 36 29 54 6 42 15 39 71
Hereditary Motor and Sensory Neuropathy 52 25
Hmsn 52 25
Cmt 52 25
Pma 25 17
Charcot-Marie-Tooth Hereditary Neuropathy 25
Hereditary Motor and Sensory Neuropathies 71
Cmt - Charcot-Marie-Tooth Disease 12
Charcot-Marie-Tooth Syndrome 25
Charcot Marie Tooth Disease 52
Peroneal Muscular Atrophy 25

Classifications:



External Ids:

Disease Ontology 12 DOID:10595
KEGG 36 H00264
ICD9CM 34 356.1
MeSH 43 D002607
NCIt 49 C75467
SNOMED-CT 67 50548001
ICD10 32 G60.0
UMLS 71 C0007959 C0027888

Summaries for Charcot-Marie-Tooth Disease

Genetics Home Reference : 25 Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves that worsens over time can result in alteration or loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity and age of onset even among members of the same family. Some people never realize they have the disorder because their symptoms are so mild, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in very rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy. Typically, the earliest symptoms of Charcot-Marie-Tooth disease result from muscle atrophy in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (steppage gait) and increase the risk of ankle injuries and tripping. As the disease worsens, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair. Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with Charcot-Marie-Tooth disease typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In rare cases, affected individuals have loss of vision or gradual hearing loss that sometimes leads to deafness. There are several types of Charcot-Marie-Tooth disease, which are differentiated by their effects on nerve cells and patterns of inheritance. Type 1 (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to transmit nerve impulses. These abnormalities slow the transmission of nerve impulses and can affect the health of the nerve fiber. Type 2 (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body to muscles or to sense organs. These abnormalities reduce the strength of the nerve impulse. In forms of Charcot-Marie-Tooth disease classified as intermediate type, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both myelin and axons. Type 4 (CMT4) is distinguished from the other types by its pattern of inheritance; it can affect either the axons or the myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in genes on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) indicate different genetic causes. Sometimes other, historical names are used to refer to particular forms of Charcot-Marie-Tooth disease. For example, Roussy-Levy syndrome is a form of CMT11 with the additional feature of rhythmic shaking (tremors). Dejerine-Sottas syndrome is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease; it is also sometimes called type 3 (CMT3). Depending on the specific gene that is altered, this severe, early-onset form of the disorder may also be classified as CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome.

MalaCards based summary : Charcot-Marie-Tooth Disease, also known as hereditary motor and sensory neuropathy, is related to charcot-marie-tooth disease, axonal, type 2e and charcot-marie-tooth disease and deafness, and has symptoms including seizures, tremor and back pain. An important gene associated with Charcot-Marie-Tooth Disease is GJB1 (Gap Junction Protein Beta 1), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Neural Crest Differentiation. The drugs Folic acid and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include Peripheral Nervous System, brain and spinal cord, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.

NIH Rare Diseases : 52 Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, "slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy , occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page . Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.

MedlinePlus : 42 Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people. CMT affects your peripheral nerves. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. Symptoms usually start around the teen years. Foot problems such as high arches or hammertoes can be early symptoms. As CMT progresses, your lower legs may weaken. Later, your hands may also become weak. Doctors diagnose CMT by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. There is no cure. The disease can be so mild you don't realize you have it or severe enough to make you weak. Physical therapy, occupational therapy, braces and other devices and sometimes surgery can help. NIH: National Institute of Neurological Disorders and Stroke

NINDS : 53 Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, and nearly all cases are inherited. CMT damages the body's peripheral nerves, making them unable to activate muscles or relay sensory informaton from the limbs back to the spinal cord and the brain. There are different types of CMT disease, which may share some symptoms but vary by pattern of inheritance and age of onset. Early symptoms typically include weakness or paralysis of the foot and lower leg muscles. As the disease progresses, weakness and decreased muscle bulk may occur in the hands, arms, legs, or feet. People may lose the ability to feel heat, cold, and touch. Chronic shortening of muscles or tendons around joints prevents the joints from moving freely, and muscle cramping is common. Some people have pain that can range from mild to severe. Genetic testing can detect the most common types of CMT.

KEGG : 36 Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction velocities, the disease can be divided into demyelinating CMT (CMT1), axonal CMT (CMT2) and intermediate CMT. Although more than 70 disease genes for CMT are known, a large number of affected individuals remain without a genetic diagnosis.

Wikipedia : 74 Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies of the... more...

Related Diseases for Charcot-Marie-Tooth Disease

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 723, show less)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2e 38.4 YARS1 TRPV4 SH3TC2 RAB7A PRX PMP22
2 charcot-marie-tooth disease and deafness 37.9 YARS1 TRPV4 SH3TC2 RAB7A PRX PMP22
3 neuropathy, congenital hypomyelinating, 1, autosomal recessive 37.4 YARS1 TRPV4 SH3TC2 RAB7A PRX PMP22
4 charcot-marie-tooth disease, demyelinating, type 1c 37.4 SH3TC2 RAB7A PRX PMP22 MPZ LRSAM1
5 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 37.4 YARS1 TRPV4 SH3TC2 RAB7A PRX PMP22
6 charcot-marie-tooth disease, demyelinating, type 1b 37.3 SH3TC2 PRX PMP22 MPZ MFN2 KIF1B
7 charcot-marie-tooth disease, demyelinating, type 1a 37.2 SH3TC2 PRX PMP22 MPZ MFN2 KIF1B
8 charcot-marie-tooth disease, x-linked dominant, 1 37.1 SH3TC2 PRX PMP22 MPZ MFN2 KIF1B
9 charcot-marie-tooth disease, axonal, type 2d 37.1 YARS1 MPZ MFN2 KIF1B HSPB8 GJB1
10 charcot-marie-tooth disease, axonal, type 2i 37.1 SH3TC2 PMP22 MPZ MFN2 KIF1B HSPB8
11 charcot-marie-tooth disease, type 4a 37.0 SH3TC2 PRX MPZ MFN2 KIF1B GJB1
12 charcot-marie-tooth disease, type 4b2 37.0 SH3TC2 RAB7A PRX MPZ GJB1 GDAP1
13 charcot-marie-tooth disease, type 4c 37.0 SH3TC2 MPZ MFN2 KIF1B GJB1 GDAP1
14 charcot-marie-tooth disease, axonal, type 2f 37.0 MPZ MFN2 KIF1B HSPB8 HSPB1 GJB1
15 charcot-marie-tooth disease, axonal, type 2b 37.0 SH3TC2 RAB7A MPZ MFN2 KIF1B GJB1
16 charcot-marie-tooth disease, demyelinating, type 4f 37.0 SH3TC2 PRX MPZ GJB1 GDAP1 FIG4
17 charcot-marie-tooth disease, axonal, type 2l 36.9 RAB7A MPZ MFN2 KIF1B HSPB8 HSPB1
18 charcot-marie-tooth disease, demyelinating, type 1d 36.9 PRX PMP22 MPZ KIF1B GJB1 GDAP1
19 charcot-marie-tooth disease, type 4b1 36.8 SH3TC2 PRX MPZ GDAP1 FIG4 FGD4
20 charcot-marie-tooth disease, axonal, type 2j 36.8 SH3TC2 MPZ MFN2 KIF1B GDAP1 EGR2
21 charcot-marie-tooth disease, axonal, type 2a1 36.8 MPZ MFN2 LRSAM1 KIF1B GDAP1 AARS1
22 charcot-marie-tooth disease, dominant intermediate b 36.8 YARS1 SH3TC2 RAB7A MPZ GJB1 GDAP1
23 charcot-marie-tooth disease, type 4h 36.8 SH3TC2 PRX MPZ GDAP1 FIG4 FGD4
24 charcot-marie-tooth disease, type 4d 36.8 SH3TC2 MPZ GJB1 GDAP1 FGD4 EGR2
25 charcot-marie-tooth disease, type 4j 36.7 SH3TC2 RAB7A PRX GDAP1 FIG4 FGD4
26 charcot-marie-tooth disease, axonal, type 2n 36.7 YARS1 MFN2 KIF1B GDAP1 GARS1 AARS1
27 hereditary motor and sensory neuropathy, type iic 36.7 TRPV4 SH3TC2 RAB7A MPZ MFN2 LRSAM1
28 charcot-marie-tooth disease, axonal, type 2b2 36.7 MPZ MFN2 LRSAM1 KIF1B GDAP1
29 hypertrophic neuropathy of dejerine-sottas 36.7 SH3TC2 PRX PMP22 MPZ MFN2 KIF1B
30 charcot-marie-tooth disease intermediate type 36.6 YARS1 SH3TC2 MPZ MFN2 LRSAM1 GJB1
31 charcot-marie-tooth disease, demyelinating, type 1f 36.6 SH3TC2 MPZ LRSAM1 GJB1 FGD4
32 charcot-marie-tooth disease type 2a2 36.6 SH3TC2 MPZ MFN2 KIF1B GJB1 GDAP1
33 charcot-marie-tooth disease type x 36.6 SH3TC2 PMP22 MPZ MFN2 KIF1B GJB1
34 charcot-marie-tooth disease, axonal, type 2b1 36.6 MFN2 LRSAM1 LMNA GDAP1
35 charcot-marie-tooth disease, dominant intermediate c 36.5 YARS1 MPZ GDAP1 GARS1 AARS1
36 charcot-marie-tooth disease, dominant intermediate a 36.5 YARS1 PRX MPZ GJB1 GDAP1
37 charcot-marie-tooth disease, axonal, type 2cc 36.4 TRPV4 MPZ MFN2 GJB1
38 charcot-marie-tooth disease, dominant intermediate e 36.4 SH3TC2 MPZ GDAP1
39 charcot-marie-tooth disease, axonal, type 2q 36.4 MPZ GJB1 EGR2
40 charcot-marie-tooth disease, recessive intermediate b 36.3 YARS1 GARS1 AARS1
41 charcot-marie-tooth disease, dominant intermediate d 36.3 YARS1 MPZ KIF1B
42 charcot-marie-tooth disease, x-linked recessive, 2 36.1 MPZ GJB1 EGR2
43 charcot-marie-tooth disease, recessive intermediate a 36.1 MFN2 GDAP1
44 charcot-marie-tooth disease, axonal, type 2u 36.1 SH3TC2 GARS1
45 tooth disease 36.1 YARS1 TRPV4 SH3TC2 RAB7A PRX PMP22
46 charcot-marie-tooth disease, axonal, type 2h 36.1 LRSAM1 GDAP1
47 charcot-marie-tooth disease, axonal, type 2r 36.0 LRSAM1 GDAP1
48 charcot-marie-tooth disease, axonal, type 2p 36.0 LRSAM1 GDAP1
49 charcot-marie-tooth disease x-linked recessive 4 35.9 MPZ GJB1
50 charcot-marie-tooth disease, type 4b3 35.9 SH3TC2 GDAP1
51 charcot-marie-tooth disease type 2a 35.9 MFN2 KIF1B
52 neuropathy, hereditary motor and sensory, russe type 35.7 SH3TC2 GDAP1 EGR2
53 neuropathy, hereditary, with liability to pressure palsies 35.6 SH3TC2 PRX PMP22 MPZ MFN2 KIF1B
54 charcot-marie-tooth disease, axonal, type 2t 35.4 LRSAM1 GDAP1
55 hereditary neuropathies 35.1 PRX PMP22 MPZ MFN2 LMNA HSPB1
56 roussy-levy hereditary areflexic dystasia 35.1 PMP22 MPZ
57 motor peripheral neuropathy 35.0 TRPV4 SH3TC2 PMP22 HSPB8 GJB1 GDAP1
58 neuropathy 34.9 TRPV4 SH3TC2 RAB7A PRX PMP22 MPZ
59 peripheral nervous system disease 34.9 TRPV4 SH3TC2 RAB7A PRX PMP22 MPZ
60 neuromuscular disease 34.7 YARS1 TRPV4 SH3TC2 RAB7A PRX PMP22
61 neuropathy, hereditary sensory and autonomic, type iia 34.5 SH3TC2 MFN2 GDAP1 FGD4
62 sensory peripheral neuropathy 34.5 TRPV4 SH3TC2 PRX PMP22 MPZ MFN2
63 foot drop 34.3 PMP22 MPZ
64 polyneuropathy 33.9 SH3TC2 PRX PMP22 MPZ MFN2 GJB1
65 axonal neuropathy 33.6 TRPV4 PMP22 MFN2 LMNA GDAP1 GARS1
66 muscular atrophy 33.5 TRPV4 LMNA HSPB8 GARS1
67 spinal muscular atrophy 33.0 TRPV4 LMNA HSPB8 GARS1
68 charcot-marie-tooth neuropathy type 2a 32.5 MFN2 KIF1B
69 diabetic neuropathy 32.3 TRPV4 PMP22 MPZ
70 carpal tunnel syndrome 32.2 SH3TC2 PMP22 MPZ
71 distal hereditary motor neuronopathy type 2 32.2 HSPB8 HSPB1
72 rigid spine muscular dystrophy 1 32.2 YARS1 LMNA AARS1
73 hereditary sensory and autonomic neuropathy type 1 31.9 SH3TC2 RAB7A GDAP1
74 sciatic neuropathy 31.8 SH3TC2 PMP22
75 amyotrophic neuralgia 31.6 PMP22 MPZ
76 mononeuropathy 31.5 SH3TC2 PMP22 MPZ
77 spastic paraplegia 55, autosomal recessive 31.5 LRSAM1 GDAP1
78 chronic polyneuropathy 31.1 PMP22 GJB1
79 autosomal dominant distal hereditary motor neuronopathy 31.1 TRPV4 LMNA
80 charcot-marie-tooth disease, axonal, type 2k 13.3
81 charcot-marie-tooth disease, axonal, type 2o 13.3
82 charcot-marie-tooth disease, type 4k 13.3
83 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 13.2
84 charcot-marie-tooth disease, x-linked recessive, 5 13.2
85 charcot-marie-tooth disease, axonal, type 2z 13.2
86 charcot-marie-tooth disease, axonal, type 2x 13.2
87 charcot-marie-tooth disease, x-linked dominant, 6 13.2
88 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 13.2
89 charcot-marie-tooth disease, dominant intermediate f 13.2
90 charcot-marie-tooth disease, recessive intermediate d 13.2
91 charcot-marie-tooth disease, recessive intermediate c 13.2
92 charcot-marie-tooth disease, x-linked recessive, 3 13.2
93 charcot-marie-tooth disease, demyelinating, type 1g 13.2
94 charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b 13.1
95 charcot-marie-tooth disease, axonal, type 2w 13.1
96 charcot-marie-tooth disease, axonal, type 2v 13.1
97 charcot-marie-tooth disease, dominant intermediate g 13.1
98 charcot-marie-tooth disease, axonal, type 2dd 13.1
99 charcot-marie-tooth disease, axonal, type 2ee 13.0
100 charcot-marie-tooth disease with ptosis and parkinsonism 13.0
101 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 13.0
102 charcot-marie-tooth disease type 5 12.9
103 charcot-marie-tooth disease type 2l 12.9
104 x-linked charcot-marie-tooth disease 12.9
105 charcot-marie-tooth disease type 7 12.8
106 autosomal dominant charcot-marie-tooth disease type 2g 12.8
107 autosomal recessive intermediate charcot-marie-tooth disease 12.8
108 neuropathy, hereditary motor and sensory, type via, with optic atrophy 12.8
109 charcot-marie-tooth disease, guadalajara neuronal type 12.7
110 dnajb2-related charcot-marie-tooth disease type 2 12.7
111 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 12.7
112 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 12.6
113 autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation 12.6
114 autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain 12.6
115 autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation 12.6
116 autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation 12.6
117 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect 12.6
118 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 12.5
119 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined 12.5
120 neuromyotonia and axonal neuropathy, autosomal recessive 12.4
121 neuropathy, hereditary motor and sensory, type vib, with optic atrophy 12.4
122 neuronopathy, distal hereditary motor, type i 12.3
123 agenesis of the corpus callosum with peripheral neuropathy 12.2
124 autosomal dominant intermediate charcot-marie-tooth 12.2
125 neuronopathy, distal hereditary motor, type iia 12.2
126 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers 12.2
127 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 12.1
128 vertical talus, congenital 12.1
129 charcot-marie-tooth neuropathy x type 1 12.0
130 charcot-marie-tooth hereditary neuropathy 12.0
131 autosomal recessive axonal hereditary motor and sensory neuropathy 12.0
132 charcot-marie-tooth neuropathy x type 5 11.9
133 giant axonal neuropathy 2, autosomal dominant 11.9
134 arts syndrome 11.9
135 distal hereditary motor neuropathies 11.9
136 refsum disease, classic 11.9
137 neuropathy, hereditary motor and sensory, type vic, with optic atrophy 11.9
138 yuan-harel-lupski syndrome 11.8
139 hereditary motor and sensory neuropathy v 11.8
140 neuropathy, hereditary, with or without age-related macular degeneration 11.7
141 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive 11.6
142 severe early-onset axonal neuropathy due to mfn2 deficiency 11.6
143 hereditary motor and sensory neuropathy with acrodystrophy 11.6
144 adie pupil 11.6
145 spastic paraplegia 10, autosomal dominant 11.6
146 auditory neuropathy, autosomal dominant, 1 11.6
147 focal segmental glomerulosclerosis 5 11.6
148 intermittent claudication 11.6
149 hamanishi ueba tsuji syndrome 11.3
150 hereditary sensorimotor neuropathy with hyperelastic skin 11.3
151 muscular disease 11.2 MFN2 LMNA HSPB8 GARS1 AARS1
152 spinal muscular atrophy, distal, autosomal recessive, 2 11.1 TRPV4 MFN2 HSPB8 GARS1
153 ataxia and polyneuropathy, adult-onset 11.1
154 branchiootic syndrome 1 11.0
155 scoliosis 11.0
156 abnormal pupillary function 11.0 MPZ GDAP1 EGR2
157 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 11.0 MPZ GJB1 EGR2
158 nerve compression syndrome 11.0 SH3TC2 PMP22 MPZ
159 usher syndrome, type iiib 11.0 YARS1 GARS1 AARS1
160 gdap1-related hereditary motor and sensory neuropathy 11.0
161 demyelinating polyneuropathy 11.0
162 tremor 10.9
163 argyll robertson pupil 10.9 MPZ GDAP1
164 pupil disease 10.9 MPZ GDAP1
165 mononeuritis of lower limb 10.9 SH3TC2 PMP22
166 asymmetric motor neuropathy 10.9 PMP22 MFN2
167 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.9
168 lesion of sciatic nerve 10.9 SH3TC2 PMP22
169 myopathy 10.9
170 autoimmune peripheral neuropathy 10.9 MPZ GJB1
171 amyotrophic lateral sclerosis 1 10.9
172 3-methylglutaconic aciduria, type iii 10.9
173 lateral sclerosis 10.9
174 sensorineural hearing loss 10.8
175 respiratory failure 10.8
176 chronic inflammatory demyelinating polyradiculoneuropathy 10.8
177 proximal spinal muscular atrophy 10.8 LMNA KIF1B
178 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 10.8
179 autoimmune neuropathy 10.8 PMP22 MPZ
180 focal segmental glomerulosclerosis 10.8
181 motor neuron disease 10.7
182 muscular dystrophy 10.7
183 trpv4-associated disorders 10.7
184 dysphagia 10.7
185 trigeminal neuralgia 10.7
186 aceruloplasminemia 10.7
187 hereditary sensory neuropathy 10.7
188 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.7 YARS1 LMNA
189 progressive muscular atrophy 10.7
190 paraplegia 10.7
191 malignant hyperthermia 10.7
192 gars1-associated axonal neuropathy 10.7
193 brachial plexus neuropathy 10.6 PMP22 MPZ
194 multiple sclerosis 10.6
195 neurofibromatosis, type iv, of riccardi 10.6
196 friedreich ataxia 10.6
197 neuronopathy, distal hereditary motor, type iib 10.6
198 restless legs syndrome 10.6
199 guillain-barre syndrome 10.6
200 essential tremor 10.6
201 mitochondrial disorders 10.6
202 chromosomal triplication 10.6
203 seizures, benign familial neonatal, 1 10.6
204 myasthenia gravis 10.6
205 sleep apnea 10.6
206 hereditary spastic paraplegia 10.6
207 demyelinating disease 10.6
208 neuroblastoma 10.6
209 auditory neuropathy spectrum disorder 10.6
210 pure autonomic failure 10.6
211 autoimmune disease of peripheral nervous system 10.5 PMP22 MPZ
212 neuropathy, hereditary thermosensitive 10.5
213 peripheral neuropathy, myopathy, hoarseness, and hearing loss 10.5
214 facial onset sensory and motor neuronopathy 10.5
215 autosomal dominant hereditary demyelinating motor and sensory neuropathy 10.5
216 autosomal dominant hereditary axonal motor and sensory neuropathy 10.5
217 autosomal recessive hereditary demyelinating motor and sensory neuropathy 10.5
218 atrial standstill 1 10.5
219 medulloblastoma 10.5
220 optic atrophy 1 10.5
221 leukemia, acute lymphoblastic 10.5
222 alacrima, achalasia, and mental retardation syndrome 10.5
223 lymphocytic leukemia 10.5
224 autonomic neuropathy 10.5
225 nephrotic syndrome 10.5
226 neutropenia 10.5
227 dilated cardiomyopathy 10.5
228 hypothyroidism 10.5
229 centronuclear myopathy 10.5
230 cerebellar disease 10.5
231 polyradiculoneuropathy 10.5
232 poliomyelitis 10.5
233 pathologic nystagmus 10.5
234 microcephaly 10.5
235 early-onset glaucoma 10.5
236 autonomic dysfunction 10.5
237 hypotonia 10.5
238 myotonia 10.5
239 spasticity 10.5
240 periodic paralysis 10.5
241 demyelinating hereditary motor and sensory neuropathy 10.5
242 erythermalgia, primary 10.4
243 pheochromocytoma 10.4
244 scapuloperoneal spinal muscular atrophy 10.4
245 smith-magenis syndrome 10.4
246 cutis marmorata telangiectatica congenita 10.4
247 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
248 kearns-sayre syndrome 10.4
249 neuronopathy, distal hereditary motor, type va 10.4
250 spinal muscular atrophy, distal, autosomal recessive, 1 10.4
251 orthostatic intolerance 10.4
252 slowed nerve conduction velocity, autosomal dominant 10.4
253 mitochondrial trifunctional protein deficiency 10.4
254 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.4
255 brown-vialetto-van laere syndrome 10.4
256 atrioventricular block 10.4
257 adrenal gland pheochromocytoma 10.4
258 apraxia 10.4
259 pain agnosia 10.4
260 idiopathic scoliosis 10.4
261 myofibrillar myopathy 10.4
262 osteomyelitis 10.4
263 hydrocephalus 10.4
264 hemiplegia 10.4
265 alport syndrome 10.4
266 visual epilepsy 10.4
267 locked-in syndrome 10.4
268 quadriplegia 10.4
269 megaesophagus 10.4
270 neuritis 10.4
271 impotence 10.4
272 optic nerve disease 10.4
273 melanoma 10.4
274 constipation 10.4
275 glomerulonephritis 10.4
276 neurilemmoma 10.4
277 palmoplantar keratosis 10.4
278 superior mesenteric artery syndrome 10.4
279 lactic acidosis 10.4
280 sleep disorder 10.4
281 mitochondrial myopathy 10.4
282 mitochondrial metabolism disease 10.4
283 end stage renal failure 10.4
284 hyperthyroidism 10.4
285 cataract 10.4
286 retinal degeneration 10.4
287 crohn's disease 10.4
288 narcolepsy 10.4
289 diabetes mellitus 10.4
290 neurofibroma 10.4
291 giant axonal neuropathy 10.4
292 cerebellar degeneration 10.4
293 glioma 10.4
294 hip subluxation 10.4
295 skeletal dysplasias 10.4
296 wallerian degeneration 10.4
297 dysautonomia 10.4
298 paresthesia 10.4
299 seizure disorder 10.4
300 glial tumor 10.4
301 oculomotor apraxia 10.4
302 nervous system disease 10.3
303 breast cancer 10.3
304 alzheimer disease 10.3
305 angioedema, hereditary, type i 10.3
306 gastroesophageal reflux 10.3
307 basal cell nevus syndrome 10.3
308 progressive familial heart block, type ia 10.3
309 candidiasis, familial, 1 10.3
310 deafness, unilateral 10.3
311 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.3
312 factor viii deficiency 10.3
313 lymphoma, mucosa-associated lymphoid type 10.3
314 guillain-barre syndrome, familial 10.3
315 hand skill, relative 10.3
316 hirschsprung disease 1 10.3
317 huntington disease 10.3
318 gilbert syndrome 10.3
319 hypertelorism 10.3
320 hereditary leiomyomatosis and renal cell cancer 10.3
321 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 10.3
322 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 10.3
323 facioscapulohumeral muscular dystrophy 1 10.3
324 noonan syndrome 1 10.3
325 parkinson disease, late-onset 10.3
326 hyperkalemic periodic paralysis 10.3
327 pernicious anemia 10.3
328 polykaryocytosis inducer 10.3
329 rheumatoid arthritis 10.3
330 schizophrenia 10.3
331 spondyloepimetaphyseal dysplasia, strudwick type 10.3
332 spondylometaphyseal dysplasia, kozlowski type 10.3
333 strabismus 10.3
334 syringomyelia, noncommunicating isolated 10.3
335 thrombocytopenic purpura, autoimmune 10.3
336 wolff-parkinson-white syndrome 10.3
337 2-aminoadipic 2-oxoadipic aciduria 10.3
338 neuropathy, hereditary sensory and autonomic, type iii 10.3
339 mast syndrome 10.3
340 mitochondrial complex i deficiency, nuclear type 1 10.3
341 spinal muscular atrophy, type iii 10.3
342 epilepsy, progressive myoclonic, 4, with or without renal failure 10.3
343 spastic paraplegia 15, autosomal recessive 10.3
344 waardenburg syndrome, type 4a 10.3
345 deafness, x-linked 1 10.3
346 hemophilia a 10.3
347 leber optic atrophy 10.3
348 muscular dystrophy, duchenne type 10.3
349 optic atrophy 2 10.3
350 pelizaeus-merzbacher disease 10.3
351 neuronopathy, distal hereditary motor, type viii 10.3
352 frontotemporal dementia 10.3
353 deafness, autosomal recessive 3 10.3
354 stroke, ischemic 10.3
355 yemenite deaf-blind hypopigmentation syndrome 10.3
356 amyotrophic lateral sclerosis 5, juvenile 10.3
357 amyotrophic lateral sclerosis 4, juvenile 10.3
358 reflex sympathetic dystrophy 10.3
359 spastic paraplegia 11, autosomal recessive 10.3
360 neuropathy, hereditary motor and sensory, okinawa type 10.3
361 pars planitis 10.3
362 body mass index quantitative trait locus 1 10.3
363 nasopharyngeal carcinoma 10.3
364 spastic paraplegia 7, autosomal recessive 10.3
365 psoriatic arthritis 10.3
366 anxiety 10.3
367 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 10.3
368 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.3
369 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 10.3
370 pitt-hopkins syndrome 10.3
371 intraocular pressure quantitative trait locus 10.3
372 ewing sarcoma 10.3
373 mononeuropathy of the median nerve, mild 10.3
374 neuronopathy, distal hereditary motor, type iic 10.3
375 microcephaly, seizures, and developmental delay 10.3
376 mitochondrial dna depletion syndrome 4b 10.3
377 beta-thalassemia 10.3
378 muscle hypertrophy 10.3
379 graft-versus-host disease 10.3
380 spastic paraplegia 46, autosomal recessive 10.3
381 mental retardation, autosomal dominant 13 10.3
382 membranous nephropathy 10.3
383 spastic paraplegia 56, autosomal recessive 10.3
384 spinal muscular atrophy, jokela type 10.3
385 interstitial lung and liver disease 10.3
386 ataxia-oculomotor apraxia 4 10.3
387 hydrops, lactic acidosis, and sideroblastic anemia 10.3
388 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.3
389 helix syndrome 10.3
390 alkuraya-kucinskas syndrome 10.3
391 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.3
392 variola major 10.3
393 distal arthrogryposis 10.3
394 autosomal recessive disease 10.3
395 spastic ataxia 10.3
396 immunoglobulin alpha deficiency 10.3
397 sexual disorder 10.3
398 aphasia 10.3
399 crohn's colitis 10.3
400 stuttering 10.3
401 ptosis 10.3
402 inguinal hernia 10.3
403 left ventricular noncompaction 10.3
404 miyoshi muscular dystrophy 10.3
405 myoglobinuria 10.3
406 autosomal recessive nonsyndromic deafness 3 10.3
407 tabes dorsalis 10.3
408 thalassemia 10.3
409 left bundle branch hemiblock 10.3
410 familial periodic paralysis 10.3
411 meningoencephalitis 10.3
412 primary optic atrophy 10.3
413 thrombotic thrombocytopenic purpura 10.3
414 amnestic disorder 10.3
415 sarcoma 10.3
416 cauda equina syndrome 10.3
417 lyme disease 10.3
418 myopia 10.3
419 clubfoot 10.3
420 optic neuritis 10.3
421 neurogenic bladder 10.3
422 chronic progressive external ophthalmoplegia 10.3
423 hellp syndrome 10.3
424 ehlers-danlos syndrome 10.3
425 cholestasis 10.3
426 algoneurodystrophy 10.3
427 hereditary angioedema 10.3
428 thrombocytopenia 10.3
429 keratosis 10.3
430 pneumothorax 10.3
431 myotonia congenita 10.3
432 relapsing-remitting multiple sclerosis 10.3
433 basal cell carcinoma 10.3
434 interstitial lung disease 10.3
435 nemaline myopathy 10.3
436 complex regional pain syndrome 10.3
437 syringomyelia 10.3
438 central nervous system disease 10.3
439 purpura 10.3
440 arthropathy 10.3
441 liver disease 10.3
442 spindle cell sarcoma 10.3
443 pustulosis of palm and sole 10.3
444 retrograde amnesia 10.3
445 movement disease 10.3
446 mixed glioma 10.3
447 liver cirrhosis 10.3
448 leiomyomatosis 10.3
449 dystonia 10.3
450 intravenous leiomyomatosis 10.3
451 hemolytic anemia 10.3
452 congestive heart failure 10.3
453 acute disseminated encephalomyelitis 10.3
454 cerebrovascular disease 10.3
455 spinal stenosis 10.3
456 peroneal nerve paralysis 10.3
457 monoclonal gammopathy of uncertain significance 10.3
458 delusional disorder 10.3
459 laryngeal disease 10.3
460 appendicitis 10.3
461 osteoarthritis 10.3
462 intestinal obstruction 10.3
463 ileus 10.3
464 lung disease 10.3
465 fundus dystrophy 10.3
466 vasculitis 10.3
467 smallpox 10.3
468 psoriasis 10.3
469 amyloidosis 10.3
470 central sleep apnea 10.3
471 waardenburg's syndrome 10.3
472 primary cerebellar degeneration 10.3
473 mechanical strabismus 10.3
474 hypoglycemia 10.3
475 hemophilia 10.3
476 myotonic dystrophy 10.3
477 dfnx1 nonsyndromic hearing loss and deafness 10.3
478 hypertrophic cardiomyopathy 10.3
479 polg-related disorders 10.3
480 sickle cell disease 10.3
481 48,xyyy 10.3
482 al amyloidosis 10.3
483 amyloid neuropathy 10.3
484 cardioencephalomyopathy 10.3
485 cutis verticis gyrata 10.3
486 fibrillary glomerulonephritis 10.3
487 infantile axonal neuropathy 10.3
488 infantile scoliosis 10.3
489 juvenile amyotrophic lateral sclerosis 10.3
490 multifocal motor neuropathy 10.3
491 pseudo-turner syndrome 10.3
492 spastic paraparesis 10.3
493 spastic paraplegia 15 10.3
494 sudden sensorineural hearing loss 10.3
495 trisomy 17 mosaicism 10.3
496 depression 10.3
497 back pain 10.3
498 chronic pain 10.3
499 encephalopathy 10.3
500 familial periodic paralyses 10.3
501 hydromyelia 10.3
502 hypertonia 10.3
503 periodic paralyses 10.3
504 postherpetic neuralgia 10.3
505 spinocerebellar degeneration 10.3
506 posttransplant acute limbic encephalitis 10.3
507 mosaic trisomy 17 10.3
508 partial duplication of chromosome 17 10.3
509 subacute inflammatory demyelinating polyneuropathy 10.3
510 progressive muscular dystrophy 10.3
511 cerebellar ataxia with peripheral neuropathy 10.3
512 obsolete: microcephaly-seizures-developmental delay syndrome 10.3
513 autosomal dominant childhood-onset proximal spinal muscular atrophy 10.3
514 mitochondrial neurogastrointestinal encephalomyopathy 10.3
515 axonal hereditary motor and sensory neuropathy 10.3
516 congenital amyoplasia 10.3
517 inherited retinal disorder 10.3
518 x-linked non-syndromic sensorineural deafness type dfn 10.3
519 rare disease in surgical orthopedic 10.3
520 glomerular disease 10.3
521 acute motor axonal neuropathy 10.3
522 hereditary optic neuropathy 10.3
523 arteries, anomalies of 10.3
524 scheuermann disease 10.3
525 stiff-person syndrome 10.3
526 coronary heart disease 1 10.3
527 hyperlipoproteinemia, type iii 10.3
528 lens subluxation 10.3
529 coronary artery anomaly 10.3
530 exostosis 10.3
531 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.3
532 adrenomyeloneuropathy 10.3
533 retinitis pigmentosa 10.2
534 neuroretinitis 10.2
535 retinitis 10.2
536 early myoclonic encephalopathy 10.2
537 leukemia 10.2
538 mastitis 10.2
539 myotonic dystrophy 1 10.2
540 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.2
541 erythroleukemia, familial 10.2
542 pertussis 10.2
543 congenital cataracts, facial dysmorphism, and neuropathy 10.1
544 glioblastoma multiforme 10.1
545 astrocytoma 10.1
546 fibrosarcoma 10.1
547 choriocarcinoma 10.1
548 monocytic leukemia 10.1
549 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
550 neuropathy, hereditary sensory and autonomic, type ia 10.0
551 poland syndrome 10.0
552 chromosome 2q35 duplication syndrome 10.0
553 hereditary ataxia 10.0
554 hypogonadotropic hypogonadism 10.0
555 dracunculiasis 10.0
556 epilepsy 10.0
557 plexiform neurofibroma 10.0
558 albinism 10.0
559 congenital contractures 10.0
560 atherosclerosis susceptibility 10.0
561 triiodothyronine receptor auxiliary protein 10.0
562 cholera 10.0
563 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
564 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
565 lung cancer susceptibility 3 10.0
566 bone resorption disease 10.0
567 aplasia cutis congenita, nonsyndromic 10.0
568 machado-joseph disease 10.0
569 autism 10.0
570 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
571 marinesco-sjogren syndrome 10.0
572 spastic ataxia, charlevoix-saguenay type 10.0
573 glaucoma 3, primary infantile, b 10.0
574 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 10.0
575 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 10.0
576 lambert-eaton myasthenic syndrome 10.0
577 autosomal recessive cerebellar ataxia 10.0
578 autosomal recessive limb-girdle muscular dystrophy 10.0
579 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0
580 open-angle glaucoma 10.0
581 juvenile glaucoma 10.0
582 facial paralysis 10.0
583 gonadal dysgenesis 10.0
584 rheumatic disease 10.0
585 acute kidney failure 10.0
586 hyperglycemia 10.0
587 myocarditis 10.0
588 episodic ataxia 10.0
589 limb-girdle muscular dystrophy 10.0
590 broken heart syndrome 10.0
591 growth hormone deficiency 10.0
592 hansen's disease 10.0
593 hashimoto encephalopathy 10.0
594 localized hypertrophic neuropathy 10.0
595 polymyositis 10.0
596 toxic oil syndrome 10.0
597 autosomal recessive spastic ataxia 10.0
598 cardiogenic shock 10.0
599 prion disease 10.0
600 hereditary stomatocytosis 10.0
601 thyroid carcinoma 10.0
602 colorectal cancer 10.0
603 leukemia, chronic lymphocytic 10.0
604 systemic lupus erythematosus 10.0
605 neutrophil migration 10.0
606 papillomatosis, confluent and reticulated 10.0
607 prostate cancer 10.0
608 retinoblastoma 10.0
609 lymphoma, hodgkin, classic 10.0
610 lymphoma, non-hodgkin, familial 10.0
611 pulmonary disease, chronic obstructive 10.0
612 leukemia, chronic myeloid 10.0
613 human immunodeficiency virus type 1 10.0
614 acute promyelocytic leukemia 10.0
615 pulmonary hypertension 10.0
616 inflammatory bowel disease 10.0
617 lymphoma 10.0
618 male infertility 10.0
619 squamous cell carcinoma 10.0
620 chronic granulomatous disease 10.0
621 rhinitis 10.0
622 familial retinoblastoma 10.0
623 b-cell lymphoma 10.0
624 myeloid leukemia 10.0
625 amyotrophy, hereditary neuralgic 9.9
626 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive 9.9
627 dermatitis, atopic 9.9
628 neuropathy, hereditary sensory, type ie 9.9
629 emery-dreifuss muscular dystrophy 9.9
630 syphilis 9.9
631 basal ganglia disease 9.9
632 periodontitis 9.9
633 exophthalmos 9.9
634 cytokine deficiency 9.9
635 autoimmune disease 9.8
636 bladder cancer 9.8
637 burkitt lymphoma 9.8
638 hepatocellular carcinoma 9.8
639 diabetes mellitus, noninsulin-dependent 9.8
640 glioma susceptibility 1 9.8
641 renal cell carcinoma, nonpapillary 9.8
642 ovarian cancer 9.8
643 ulnar-mammary syndrome 9.8
644 adrenocortical carcinoma, hereditary 9.8
645 ataxia-telangiectasia 9.8
646 chondrosarcoma 9.8
647 cystic fibrosis 9.8
648 leprosy 3 9.8
649 proteasome-associated autoinflammatory syndrome 1 9.8
650 nephrotic syndrome, type 1 9.8
651 ocular motor apraxia 9.8
652 osteogenic sarcoma 9.8
653 glanzmann thrombasthenia 9.8
654 thymoma, familial 9.8
655 asthma 9.8
656 leukemia, acute myeloid 9.8
657 cervical cancer 9.8
658 allergic rhinitis 9.8
659 endometrial cancer 9.8
660 legionnaire disease 9.8
661 primary lateral sclerosis, adult, 1 9.8
662 gastric cancer 9.8
663 t-cell lymphoma, subcutaneous panniculitis-like 9.8
664 angina pectoris 9.8
665 adrenal cortical carcinoma 9.8
666 autoimmune vasculitis 9.8
667 diffuse large b-cell lymphoma 9.8
668 autism spectrum disorder 9.8
669 bone disease 9.8
670 nodal marginal zone lymphoma 9.8
671 cysticercosis 9.8
672 prolymphocytic leukemia 9.8
673 legionellosis 9.8
674 lepromatous leprosy 9.8
675 disseminated intravascular coagulation 9.8
676 rabies 9.8
677 tetanus 9.8
678 adult respiratory distress syndrome 9.8
679 pulmonary edema 9.8
680 common variable immunodeficiency 9.8
681 telangiectasis 9.8
682 gout 9.8
683 brain cancer 9.8
684 typhoid fever 9.8
685 azoospermia 9.8
686 vascular disease 9.8
687 blood platelet disease 9.8
688 kidney cancer 9.8
689 bruxism 9.8
690 hairy cell leukemia 9.8
691 endometrial adenocarcinoma 9.8
692 antiphospholipid syndrome 9.8
693 gingivitis 9.8
694 thymoma 9.8
695 vaccinia 9.8
696 skin disease 9.8
697 gastric adenocarcinoma 9.8
698 adrenal cortical adenocarcinoma 9.8
699 carcinosarcoma 9.8
700 avian influenza 9.8
701 pilomyxoid astrocytoma 9.8
702 infertility 9.8
703 amphetamine abuse 9.8
704 juvenile pilocytic astrocytoma 9.8
705 herpes simplex 9.8
706 measles 9.8
707 intermediate coronary syndrome 9.8
708 stomatitis 9.8
709 aphthous stomatitis 9.8
710 47,xyy 9.8
711 allergic encephalomyelitis 9.8
712 bronchopulmonary dysplasia 9.8
713 diencephalic syndrome 9.8
714 sutton disease 2 9.8
715 thrombasthenia 9.8
716 triploidy 9.8
717 myoclonus 9.8
718 pituitary tumors 9.8
719 spinal cord injury 9.8
720 rapidly involuting congenital hemangioma 9.8
721 argyria 9.8
722 polyploidy 9.8
723 precursor t-cell acute lymphoblastic leukemia 9.8

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease:



Diseases related to Charcot-Marie-Tooth Disease

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease

UMLS symptoms related to Charcot-Marie-Tooth Disease:


seizures, tremor, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

26 (showing 10, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.19 GJB1
2 Decreased viability GR00107-A-1 10.19 HSPB8
3 Decreased viability GR00221-A-1 10.19 HSPB8
4 Decreased viability GR00221-A-4 10.19 HSPB8
5 Decreased viability GR00240-S-1 10.19 LMNA
6 Decreased viability GR00301-A 10.19 HSPB8
7 Decreased viability GR00381-A-1 10.19 FGD4 FIG4 HSPB1 LRSAM1 MPZ PRX
8 Decreased viability GR00381-A-3 10.19 MPZ
9 Decreased viability GR00402-S-2 10.19 AARS1 EGR2 FGD4 FIG4 GARS1 GDAP1
10 no effect GR00402-S-1 9.62 AARS1 EGR2 FGD4 FIG4 GARS1 GDAP1

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease:

45 (showing 11, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.4 AARS1 EGR2 FGD4 FIG4 GARS1 GDAP1
2 growth/size/body region MP:0005378 10.28 AARS1 EGR2 FGD4 FIG4 GARS1 GJB1
3 cardiovascular system MP:0005385 10.22 AARS1 EGR2 FIG4 GDAP1 HSPB1 HSPB8
4 cellular MP:0005384 10.2 AARS1 EGR2 GDAP1 GJB1 HSPB1 HSPB8
5 homeostasis/metabolism MP:0005376 10.18 EGR2 GDAP1 GJB1 HSPB1 HSPB8 KIF1B
6 mortality/aging MP:0010768 10.1 AARS1 EGR2 FIG4 GARS1 GJB1 HSPB8
7 integument MP:0010771 10.02 AARS1 EGR2 FIG4 GDAP1 KIF1B LMNA
8 nervous system MP:0003631 9.86 AARS1 EGR2 FGD4 FIG4 GARS1 GDAP1
9 muscle MP:0005369 9.85 AARS1 FIG4 GARS1 HSPB8 KIF1B LMNA
10 limbs/digits/tail MP:0005371 9.8 EGR2 FIG4 GDAP1 KIF1B LMNA PMP22
11 respiratory system MP:0005388 9.17 EGR2 HSPB8 KIF1B LMNA MPZ PRX

Drugs & Therapeutics for Charcot-Marie-Tooth Disease

Drugs for Charcot-Marie-Tooth Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 36, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2 Trace Elements Phase 4
3 Vitamins Phase 4
4 Nutrients Phase 4
5 Micronutrients Phase 4
6 Protective Agents Phase 4
7 Antioxidants Phase 4
8 Vitamin B Complex Phase 4
9 Alpha-lipoic Acid Phase 4
10 Folate Phase 4
11 Vitamin B9 Phase 4
12 Thioctic Acid Phase 4
13
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
14
Sorbitol Approved Phase 3 50-70-4 5780
15
Baclofen Approved Phase 3 1134-47-0 2284
16
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
17
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
18 carnitine Phase 2, Phase 3
19 Nootropic Agents Phase 2, Phase 3
20 Pharmaceutical Solutions Phase 3
21 Hematinics Phase 2, Phase 3
22 Epoetin alfa Phase 2, Phase 3 113427-24-0
23 Neuroprotective Agents Phase 2, Phase 3
24
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
25
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
26 Ubiquinone Phase 1, Phase 2
27 4-des-dimethylaminotetracycline Phase 1, Phase 2
28 HIV Protease Inhibitors Phase 1, Phase 2
29
protease inhibitors Phase 1, Phase 2
30 Matrix Metalloproteinase Inhibitors Phase 1, Phase 2
31 Contraceptive Agents Phase 2
32 Ulipristal acetate Phase 2 126784-99-4
33 Analgesics
34 Hemostatics
35 insulin
36 Insulin, Globin Zinc

Interventional clinical trials:

(showing 61, show less)
# Name Status NCT ID Phase Drugs
1 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
3 A Multicenter Study to Evaluate the Effects on Charcot−Marie−Tooth Neuropathy Type 1A of a Composite Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program. Unknown status NCT01289704 Phase 2, Phase 3
4 A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A. Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
5 International, Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study Assessing in Parallel Groups the Efficacy and Safety of 2 Doses of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Treated 15 Months Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
6 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome; a Randomized Control Trial. Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
7 International, Multi-center, Open Label, 9-month Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Active, not recruiting NCT03023540 Phase 3 PXT3003
8 Recombinant Human Erythropoietin (r-HuEPO) in the Prevention of Neurologic Sequelae From Malignant Spinal Cord Compression: a Multi-Center, Placebo-Controlled, Phase 2 Randomized Study Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
9 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
10 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
11 A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A. Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
12 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
13 Effects of Coenzyme Q10 (CoQ10) on Subjects With Charcot-Marie-Tooth Disease (CMT):A Double Blind, Randomized, Controlled Trial With an Open Label Follow-up Study Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
14 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
15 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Recruiting NCT01562860 Phase 2
16 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Active, not recruiting NCT03124459 Phase 2 ACE-083;Placebo
17 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Enrolling by invitation NCT03943290 Phase 2 ACE-083
18 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Not yet recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
19 A Randomized, Double-Blind, Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of FLX-787-ODT for Treatment of Muscle Cramps in Adult Subjects With Charcot-Marie-Tooth Disease Terminated NCT03254199 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
20 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
21 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
22 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
23 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
24 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
25 Prospective Randomized Controlled Trial Comparing Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer. Unknown status NCT01751503
26 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
27 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
28 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
29 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
30 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
31 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038
32 Posterior Interosseous Nerve Pathology May Provide Novel Insights Into Both Predisposition and Potential Vascular Basis for the Development of Carpal Tunnel Syndrome in Diabetic Patients. Completed NCT00856011
33 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333
34 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
35 The Management of Abdominal Cutaneous Nerve Entrapment Syndrome Completed NCT03574727
36 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
37 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
38 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
39 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722
40 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
41 A Prospective Non-Randomized Unblinded Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
42 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
43 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
44 Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT) Recruiting NCT03966287
45 A Registered Observational Cohort Study of Charcot-Marie-Tooth Disease Recruiting NCT04010188
46 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Recruiting NCT03278093
47 Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT Recruiting NCT01193088
48 The Impact of Charcot-Marie-Tooth Disease in the Real World Recruiting NCT03782883
49 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Recruiting NCT01203085
50 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Recruiting NCT01193075
51 A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Recruiting NCT03810508
52 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300
53 Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases Recruiting NCT02532244
54 Treatment for Ulnar Neuropathy at the Elbow - a Randomized Control Trial Recruiting NCT03651609
55 A Randomized Double Blind Longitudinal Study to Determine Motor Unit Number Index Variability in CMT1A Patients Undergoing a Home Ankle Strengthening Program Versus Standard of Care Recruiting NCT03715283
56 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Active, not recruiting NCT03386266
57 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Not yet recruiting NCT03397303
58 Use Of Autologous Stem Cell Use In Neurological Non-neoplastic Disorders And Disease Not yet recruiting NCT03297177
59 Efficacy of Dextrose Injections, Corticosteroids Injections and Surgical Release for Treatment of the Carpal Tunnel Syndrome: a Prospective, Randomized, Double-blind Controlled Trial Not yet recruiting NCT04014244 Corticosteroid vs. Dextrose
60 Vocal and Swallowing Dysfunction Following Thyroid Surgery Not yet recruiting NCT04087447
61 The DNA and Cell Bank of IFR of Neurosciences: Clinical and Genetic Study of Parkinson's Disease and Epilepsies Terminated NCT00142363

Search NIH Clinical Center for Charcot-Marie-Tooth Disease

Genetic Tests for Charcot-Marie-Tooth Disease

Genetic tests related to Charcot-Marie-Tooth Disease:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease 29 CNTNAP1 DRP2 MCM3AP MORC2 SGPL1 WARS1

Anatomical Context for Charcot-Marie-Tooth Disease

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease:

40
Brain, Spinal Cord, Testes, Skin, Skeletal Muscle, Thyroid, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Charcot-Marie-Tooth Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Peripheral Nervous System Peripheral Nerve Domain Myelinating Schwann Cells Affected by disease

Publications for Charcot-Marie-Tooth Disease

Articles related to Charcot-Marie-Tooth Disease:

(showing 3428, show less)
# Title Authors PMID Year
1
A Sporadic Case of Charcot-Marie-Tooth Disease Type 2 with Left Vocal Fold Palsy due to Mitofusin 2 Mutation. 61 42
30996168 2019
2
A complex containing lysine-acetylated actin inhibits the formin INF2. 42 61
30962575 2019
3
Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease. 42 61
31179332 2019
4
Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2. 61 54
20513111 2010
5
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. 61 54
20418531 2010
6
Dynamin 2 and human diseases. 61 54
20127478 2010
7
Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. 61 54
20163430 2010
8
Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. 54 61
20178975 2010
9
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. 61 54
19888301 2010
10
Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. 61 54
20039784 2010
11
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 61 54
20037586 2010
12
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 54 61
19932620 2010
13
Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment. 61 54
20453308 2010
14
YY1-dependent transcriptional regulation of the human GDAP1 gene. 61 54
19720140 2009
15
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. 54 61
19782751 2009
16
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 61 54
20008656 2009
17
Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. 61 54
19923170 2009
18
[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease]. 61 54
20193559 2009
19
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease]. 54 61
20193560 2009
20
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. 54 61
19259128 2009
21
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. 54 61
19293842 2009
22
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. 54 61
19427854 2009
23
PMP22 expression in dermal nerve myelin from patients with CMT1A. 54 61
19447823 2009
24
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A. 61 54
19500985 2009
25
Functional and comparative genomics analyses of pmp22 in medaka fish. 54 61
19534778 2009
26
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). 54 61
19089472 2009
27
A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. 61 54
19321787 2009
28
[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations]. 61 54
19718987 2009
29
The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease. 54 61
20225023 2009
30
Diabetes mellitus exacerbates motor and sensory impairment in CMT1A. 54 61
19192070 2008
31
Pharmacological induction of the heat shock response improves myelination in a neuropathic model. 54 61
18655835 2008
32
Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. 61 54
18549403 2008
33
A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. 61 54
18492089 2008
34
A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression. 54 61
18663734 2008
35
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy. 61 54
18563718 2008
36
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. 54 61
18560793 2008
37
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation. 61 54
18587268 2008
38
[Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]. 61 54
18616154 2008
39
Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants. 61 54
18353664 2008
40
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. 54 61
18231710 2008
41
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. 54 61
18379723 2008
42
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. 54 61
17825552 2007
43
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. 54 61
17881652 2007
44
Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1. 61 54
18383612 2007
45
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1. 61 54
18386326 2007
46
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1. 54 61
18386329 2007
47
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. 61 54
17717711 2007
48
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. 61 54
17940173 2007
49
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. 54 61
17620486 2007
50
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 54 61
17636067 2007
51
"Laminopathies": a wide spectrum of human diseases. 54 61
17467691 2007
52
Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase. 54 61
17545306 2007
53
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. 54 61
17444508 2007
54
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 54 61
17052987 2007
55
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. 54 61
17200131 2007
56
Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. 61 54
17215403 2007
57
Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. 61 54
17159110 2006
58
Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2. 61 54
16750429 2006
59
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. 61 54
17060578 2006
60
Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression. 61 54
16988048 2006
61
Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. 61 54
16856127 2006
62
Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models. 54 61
16930284 2006
63
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 61 54
16835246 2006
64
The effects of a dominant connexin32 mutant in myelinating Schwann cells. 54 61
16790356 2006
65
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. 61 54
16787513 2006
66
Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene. 61 54
17039978 2006
67
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). 54 61
16762064 2006
68
Myelin protein zero: mutations in the cytoplasmic domain interfere with its cellular trafficking. 54 61
16493674 2006
69
Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression. 54 61
16326107 2006
70
A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities. 61 54
16688595 2006
71
Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot-Marie-Tooth disease. 61 54
16442804 2006
72
Peripheral neuropathies caused by mutations in the myelin protein zero. 61 54
16414078 2006
73
A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease. 54 61
16343542 2006
74
Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. 61 54
16399794 2006
75
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X. 61 54
16476939 2006
76
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0549. 61 54
17297705 2006
77
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551. 54 61
17297707 2006
78
Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE. 54 61
16373087 2006
79
Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A. 54 61
16449811 2006
80
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 61 54
16770524 2006
81
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease type 1B. 61 54
16521307 2005
82
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. 54 61
16252242 2005
83
Glomerular permeability is altered by loss of P0, a myelin protein expressed in glomerular epithelial cells. 61 54
16162811 2005
84
SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease. 54 61
16118794 2005
85
[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease]. 61 54
16215937 2005
86
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. 61 54
16172208 2005
87
Neurotrophin-3 therapy for Charcot-Marie-Tooth disease type 1A. 54 61
16157894 2005
88
Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells. 54 61
16079393 2005
89
Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene. 61 54
15944907 2005
90
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. 61 54
15776429 2005
91
Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation. 61 54
15716547 2005
92
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 54 61
15731758 2005
93
[A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)]. 61 54
15835292 2005
94
X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene. 54 61
15468313 2005
95
Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease. 54 61
15719046 2005
96
Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. 54 61
15703409 2005
97
Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation. 61 54
15729519 2005
98
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. 61 54
16155736 2005
99
Peripheral neuropathy: the importance of history and examination for correct diagnosis. 61 54
16400316 2005
100
Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. 61 54
15470753 2004
101
A novel RAB7 mutation associated with ulcero-mutilating neuropathy. 61 54
15455439 2004
102
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. 61 54
15304601 2004
103
Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation. 61 54
15170620 2004
104
[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease]. 61 54
15192818 2004
105
A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. 54 61
15099592 2004
106
Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes. 54 61
15298082 2004
107
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. 61 54
15019704 2004
108
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease. 61 54
15006706 2004
109
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease. 61 54
14742601 2004
110
Mutations in the neurofilament light chain gene (NEFL)--a study of a possible pathogenous effect. 54 61
15535039 2004
111
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes. 61 54
14595091 2004
112
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 61 54
15197604 2004
113
Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease. 61 54
15094849 2004
114
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. 61 54
14607793 2004
115
De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease. 61 54
15625576 2004
116
Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons. 61 54
14664827 2003
117
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32. 54 61
14627639 2003
118
Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye. 61 54
14555828 2003
119
Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication. 61 54
14502374 2003
120
Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report. 54 61
12940837 2003
121
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family. 54 61
12845552 2003
122
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. 61 54
12872253 2003
123
Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease. 54 61
12775342 2003
124
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. 54 61
12687498 2003
125
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. 54 61
12690580 2003
126
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. 61 54
12707076 2003
127
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. 61 54
12707075 2003
128
[Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease]. 61 54
12673592 2003
129
CMT4A: identification of a Hispanic GDAP1 founder mutation. 61 54
12601710 2003
130
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 61 54
12566280 2003
131
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. 61 54
12554688 2003
132
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. 54 61
12634865 2003
133
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 61 54
12497641 2003
134
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. 54 61
12467734 2003
135
Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease. 61 54
12542510 2003
136
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. 54 61
12477701 2003
137
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. 54 61
12499475 2002
138
Matrix metalloproteinase mediated degradation of basement membrane proteins in Trembler J neuropathy nerves. 54 61
12421361 2002
139
A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. 54 61
12398840 2002
140
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. 61 54
12325071 2002
141
[A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing]. 61 54
12362307 2002
142
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. 54 61
12185164 2002
143
Mutation analysis of the MPZ and PMP22 genes in Croatian patients. 61 54
12211648 2002
144
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies. 54 61
12030330 2002
145
Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease. 61 54
11891346 2002
146
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 54 61
11835375 2002
147
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. 61 54
11734543 2001
148
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. 54 61
11571214 2001
149
Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. 54 61
11562788 2001
150
Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene. 61 54
11550219 2001
151
CNS myelination and PLP gene dosage. 61 54
11535114 2001
152
Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene. 54 61
11572600 2001
153
[X-linked recessive Charcot-Marie-Tooth disease and Cx32 gene mutation]. 61 54
11718056 2001
154
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. 61 54
11523566 2001
155
The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders. 61 54
11499640 2001
156
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. 54 61
11389829 2001
157
Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease. 54 61
11325342 2001
158
Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. 54 61
11437164 2001
159
Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence. 61 54
11266688 2001
160
Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. 54 61
11354824 2001
161
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. 54 61
11157804 2001
162
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. 61 54
11220745 2001
163
Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1). 54 61
11393532 2001
164
Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B. 61 54
11182278 2001
165
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). 61 54
11080237 2000
166
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs. 61 54
10998431 2000
167
A new mutation in the connexin 32 gene was found in Charcot- Marie-Tooth disease in Chinese patients. 61 54
11024208 2000
168
PMP22 Thr118Met is not a clinically relevant CMT1 marker. 61 54
11081809 2000
169
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. 54 61
10965800 2000
170
Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ). 61 54
11085599 2000
171
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease. 61 54
10923043 2000
172
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. 61 54
10848494 2000
173
Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L) 54 61
10848490 2000
174
Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins. 54 61
10848620 2000
175
Small axons relative to number of myelin lamellae in Charcot-Marie-Tooth disease 1A with peripheral myelin protein 22 gene duplication. 54 61
10862406 2000
176
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 54 61
10802647 2000
177
Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene. 61 54
10891594 2000
178
Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease. 54 61
10751670 2000
179
Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. 61 54
10751671 2000
180
Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease. 54 61
10646523 2000
181
Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. 54 61
10648431 2000
182
[Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene]. 54 61
10835936 2000
183
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. 61 54
10737979 2000
184
Clinical and pathological observations in men lacking the gap junction protein connexin 32. 54 61
11135283 2000
185
Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1. 61 54
10632107 2000
186
Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. 61 54
10487913 1999
187
Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q) 54 61
10102421 1999
188
Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations. 61 54
9854984 1998
189
Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. 61 54
9842994 1998
190
Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene. 61 54
9760211 1998
191
PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: correlation to structural changes. 61 54
9678509 1998
192
Many facets of the peripheral myelin protein PMP22 in myelination and disease. 61 54
9672419 1998
193
Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties. 61 54
9592087 1998
194
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. 54 61
9595994 1998
195
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. 61 54
9566397 1998
196
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease. 61 54
9541114 1998
197
Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1). 61 54
9466597 1998
198
Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression. 61 54
9469569 1998
199
A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease. 61 54
9452025 1998
200
Altered trafficking of mutant connexin32. 61 54
9364054 1997
201
Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. 54 61
9409359 1997
202
Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation. 61 54
9455987 1997
203
Accumulation of peripheral myelin protein 22 (PMP22) in onion bulbs of nerves biopsied from patients with different subtypes of Charcot-Marie-Tooth disease type 1. 54 61
9386787 1997
204
Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs. 54 61
9341930 1997
205
Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease. 61 54
9354338 1997
206
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance. 61 54
9272161 1997
207
De novo mutation of Charcot-Marie-Tooth disease type 1A. 61 54
9308980 1997
208
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. 61 54
9187667 1997
209
Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions. 54 61
9150743 1997
210
Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease. 61 54
9252795 1997
211
Connexin32 and X-linked Charcot-Marie-Tooth disease. 61 54
9361298 1997
212
New mutations in the X-linked form of Charcot-Marie-Tooth disease. 61 54
9018031 1997
213
[Neurologic diseases and chromosome 17]. 54 61
9072299 1996
214
Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A. 54 61
8922056 1996
215
Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. 61 54
8757248 1996
216
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. 61 54
8816708 1996
217
Charcot-Marie-Tooth disease and related inherited neuropathies. 54 61
8862346 1996
218
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. 54 61
8797476 1996
219
Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations. 61 54
8756159 1996
220
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. 54 61
8817346 1996
221
Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects. 61 54
8816997 1996
222
A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease. 54 61
8655153 1996
223
Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. 61 54
8786387 1996
224
Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood. 61 54
8881991 1996
225
A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis. 61 54
8938258 1996
226
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. 61 54
8800924 1996
227
Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A. 61 54
8956042 1996
228
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. 61 54
8664899 1996
229
[Molecular pathology of Charcot-Marie-Tooth disease type 1A: abnormal expression of PMP-22]. 61 54
8752424 1995
230
[Genetics of peripheral neuropathies and hereditary ataxias]. 61 54
8838557 1995
231
[Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication]. 61 54
8821490 1995
232
Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy. 54 61
8849012 1995
233
An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve. 61 54
7668829 1995
234
[Abnormality of PMP-22 gene in Japanese patients with Charcot-Marie-Tooth disease--comparison between Southern blot and polymerase chain reaction analysis in the detection of PMP-22 gene duplication]. 54 61
7612387 1995
235
Peripheral myelin protein 22: facts and hypotheses. 61 54
7745607 1995
236
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. 61 54
7530774 1994
237
Handedness: basic physics. 54 61
7993483 1994
238
Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. 54 61
8080259 1994
239
Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. 61 54
7952853 1994
240
A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes. 61 54
8076700 1994
241
Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. 54 61
8028042 1994
242
Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. 61 54
7512319 1994
243
Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. 61 54
8012365 1994
244
Genetic basis of inherited peripheral neuropathies. 61 54
7515304 1994
245
Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate adhesion epitope. 54 61
7693873 1993
246
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. 61 54
8275092 1993
247
Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients. 54 61
7504284 1993
248
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. 54 61
8252046 1993
249
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. 61 54
7693130 1993
250
Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. 54 61
8406488 1993
251
Localization of PMP-22 gene (candidate gene for the Charcot-Marie-Tooth disease 1A) to band 17p11.2 by direct R-banding fluorescence in situ hybridization. 61 54
1297450 1992
252
Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. 61 54
1303231 1992
253
Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease. 61 54
1733853 1992
254
Unfolded protein response in myelin disorders. 61
31638085 2020
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Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K. 61
31655048 2020
256
Identification of CR43467 encoding a long non-coding RNA as a novel genetic interactant with dFIG4, a CMT-causing gene. 61
31704059 2020
257
A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease. 61
31688096 2020
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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. 61
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Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J. 61
31313076 2019
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Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. 61
31557132 2019
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Plasticity in salt bridge allows fusion-competent ubiquitylation of mitofusins and Cdc48 recognition. 61
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Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report. 61
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Reduction of Rpd3 suppresses defects in locomotive ability and neuronal morphology induced by the knockdown of Drosophila SLC25A46 via an epigenetic pathway. 61
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Charcot-Marie-Tooth Disease Type 4J and Multiple Sclerosis. 61
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Foot Function Index: A Promising Questionnaire for Individuals With Charcot-Marie-Tooth Disease Type 1A. 61
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Nerve size correlates with clinical severity in Charcot-Marie-Tooth disease 1A. 61
31469427 2019
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Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation. 61
31449671 2019
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HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients. 61
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An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2019
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Long term results of the revisited Meary closing wedge tarsectomy for the treatment of the fixed cavo-varus foot in adolescent with Charcot-Marie-Tooth disease. 61
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Downregulation of the human peripheral myelin protein 22 gene by miR-29a in cellular models of Charcot-Marie-Tooth disease. 61
31455873 2019
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BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease. 61
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ATP1A1 mutations cause intermediate Charcot-Marie-Tooth disease. 61
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Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2. 61
31832804 2019
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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease. 61
31827005 2019
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Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice. 61
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Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease. 61
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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. 61
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Gene therapy approaches targeting Schwann cells for demyelinating neuropathies. 61
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Eye movements in demyelinating, autoimmune and metabolic disorders. 61
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Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation. 61
31705535 2019
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Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. 61
31582811 2019
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Small Heat Shock Proteins and Human Neurodegenerative Diseases. 61
31760916 2019
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Mitochondrial impairment activates the Wallerian pathway through depletion of NMNAT2 leading to SARM1-dependent axon degeneration. 61
31740269 2019
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Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy. 61
31695036 2019
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Serum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy. 61
31712675 2019
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Insights into wild type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish. 61
31691805 2019
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Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study. 61
31560180 2019
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Atypical Pediatric Demyelinating Diseases of the Central Nervous System. 61
31773416 2019
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Targeting the programmed axon degeneration pathway as a potential therapeutic for Charcot-Marie-Tooth disease. 61
31689415 2019
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Anesthesia in a patient with Charcot-Marie-Tooth disease with pneumothorax: a case report. 61
31631738 2019
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CNTNAP1 mutations in an adult with Charcot Marie Tooth disease. 61
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[A Case of Type 1A Charcot-Marie-Tooth Disease Manifested by Oxaliplatin Administration of Neoadjuvant Chemotherapy in a Gastric Cancer Patient]. 61
31748488 2019
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Nervous NDRGs: the N-myc downstream-regulated gene family in the central and peripheral nervous system. 61
31485792 2019
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Charcot-Marie-Tooth 2F (Hsp27 mutations): A review. 61
31212070 2019
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Charcot-Marie-Tooth disease and related disorders: an evolving landscape. 61
31343428 2019
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Human 2-Oxoglutarate Dehydrogenase and 2-Oxoadipate Dehydrogenase Both Generate Superoxide/H2O2 in a Side Reaction and Each Could Contribute to Oxidative Stress in Mitochondria. 61
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Gene therapy to promote regeneration in Charcot-Marie-Tooth disease. 61
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X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms. 61
31220874 2019
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A novel mutation in PRPS1 causes X-linked Charcot-Marie-Tooth disease-5. 61
31434166 2019
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Orthotic management of instability of the knee related to neuromuscular and central nervous system disorders: qualitative interview study of patient perspectives. 61
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Genetic approaches to the treatment of inherited neuromuscular diseases. 61
31227836 2019
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In-silico and Molecular Analysis of Reticulon 4asNovel therapeutic option for axonal regeneration. 61
31622291 2019
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Predicting gait adaptations due to ankle plantarflexor muscle weakness and contracture using physics-based musculoskeletal simulations. 61
31589597 2019
305
Soft tissue release combined with joint-sparing osteotomy for treatment of cavovarus foot deformity in older children: Analysis of 21 cases. 61
31667171 2019
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Phospholipid-Coated Hydrophobic Mesoporous Silica Nanoparticles Enhance Thrombectomy by High-Intensity Focused Ultrasound with Low Production of Embolism-Inducing Clot Debris. 61
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The Charcot-Marie Tooth Disease Mutation R94Q in MFN2 Decreases ATP Production but Increases Mitochondrial Respiration under Conditions of Mild Oxidative Stress. 61
31640251 2019
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New mutation in a patient with Charcot-Marie-Tooth disease. 61
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Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1. 61
31271761 2019
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Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease. 61
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Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot-Marie-Tooth disease 1A. 61
31393643 2019
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LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2. 61
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Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients. 61
31227790 2019
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Respiratory System, Sleep Quality, Restless Leg Syndrome, and Depression-Anxiety Assessment in Charcot Marie Tooth Disease. 61
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Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series. 61
31393079 2019
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Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art. 61
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[Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy]. 61
31515790 2019
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What system controls balance in children with charcot-marie-tooth disease? 61
31228266 2019
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CNS phenotype in X linked Charcot- Marie-Tooth disease. 61
30518545 2019
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Balance impairment in pediatric charcot-marie-tooth disease. 61
31026080 2019
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Mice with an autosomal dominant Charcot-Marie-Tooth type 2O disease mutation in both dynein alleles display severe moto-sensory phenotypes. 61
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Junctophilins emerge as novel therapeutic targets. 61
30825194 2019
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Follistatin-based ligand trap ACE-083 induces localized hypertrophy of skeletal muscle with functional improvement in models of neuromuscular disease. 61
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Old but Gold: Tracking the New Guise of Histone Deacetylase 6 (HDAC6) Enzyme as a Biomarker and Therapeutic Target in Rare Diseases. 61
31415174 2019
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Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. 61
31468327 2019
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Genomic Integrity Safeguards Self-Renewal in Embryonic Stem Cells. 61
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De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy. 61
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Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X. 61
31411673 2019
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Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation. 61
31111683 2019
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Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease. 61
31199454 2019
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Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F. 61
31426691 2019
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Clinical Reasoning: Pes cavus and neuropathy: Think beyond Charcot-Marie-Tooth disease. 61
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Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties. 61
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Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology. 61
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Trigeminal Neuralgia and Charcot-Marie-Tooth Disease: An Intriguing Association. Lessons From a Large Family Case Report and Review of Literature. 61
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A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation. 61
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A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4. 61
31152969 2019
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Successful treatment of nasopharyngeal cancer using radiotherapy with concurrent cetuximab in a patient with Charcot-Marie-Tooth disease. 61
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A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease. 61
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A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). 61
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Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations. 61
31059078 2019
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MiRNA-204-5p and oxaliplatin-loaded silica nanoparticles for enhanced tumor suppression effect in CD44-overexpressed colon adenocarcinoma. 61
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Charcot-Marie-Tooth disease Type 2E/1F mutant neurofilament proteins assemble into neurofilaments. 61
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[A genotyping study of 13 cases of early-onset Charcot-Marie-Tooth disease]. 61
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A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene. 61
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Influence of Training Models at 3,900-m Altitude on the Physiological Response and Performance of a Professional Wheelchair Athlete: A Case Study. 61
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Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study. 61
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iMotor-CNN: Identifying molecular functions of cytoskeleton motor proteins using 2D convolutional neural network via Chou's 5-step rule. 61
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PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability. 61
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350
New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease. 61
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Surgical outcomes of cavovarus foot deformity in children with Charcot-Marie-Tooth disease. 61
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Falls in paediatric Charcot-Marie-Tooth disease: a 6-month prospective cohort study. 61
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Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan. 61
31211173 2019
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POLG mutations presenting as Charcot-Marie-Tooth disease. 61
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Muscle fat quantification using magnetic resonance imaging: case-control study of Charcot-Marie-Tooth disease patients and volunteers. 61
30873759 2019
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Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study. 61
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MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics. 61
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Neurologic Disorders and Cavovarus Deformity. 61
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The Cole Midfoot Osteotomy: Clinical and Radiographic Retrospective Review of Five Patients (Six Feet) with Different Etiologies. 61
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Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. 61
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Acute neurotoxicity following vincristine due to Charcot-Marie-Tooth disease in a young child with medulloblastoma. 61
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Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family. 61
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Cerebral hypomyelination associated with biallelic variants of FIG4. 61
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Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy. 61
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Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy. 61
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366
Biodegradable hybrid mesoporous silica nanoparticles for gene/chemo-synergetic therapy of breast cancer. 61
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Temperature-Responsive Hydrophobic Silica Nanoparticle Ultrasound Contrast Agents Directed by Phospholipid Phase Behavior. 61
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Walking Speed Is Correlated With the Isokinetic Muscular Strength of the Knee in Patients With Charcot-Marie-Tooth Type 1A. 61
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Physical function and performance measures of children and adolescents with Charcot-Marie-Tooth disease. 61
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Cell and context-dependent sorting of neuropathy-associated protein NDRG1 - insights from canine tissues and primary Schwann cell cultures. 61
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371
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. 61
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BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy. 61
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Treatment-induced remission of medulloblastoma using a chemotherapeutic regimen devoid of vincristine in a child with Charcot-Marie-Tooth disease. 61
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Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity. 61
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NRG1 type I dependent autoparacrine stimulation of Schwann cells in onion bulbs of peripheral neuropathies. 61
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miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22. 61
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Aerosol technique-based carbon-encapsulated hollow mesoporous silica nanoparticles for synergistic chemo-photothermal therapy. 61
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The histone deacetylase class I, II inhibitor trichostatin A delays peripheral neurodegeneration. 61
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Aminoacyl-tRNA synthetases and tRNAs in human disease: an introduction to the JBC Reviews thematic series. 61
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Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies. 61
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Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. 61
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To Block or Not to Block: Role of Ultrasonography in Guiding an Anesthetic Plan for a Patient With Charcot-Marie-Tooth Disease. 61
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Affected Children of Healthy Parents: Multiple Pediatric Cases of Autosomal Recessive Charcot-Marie-Tooth Disease in a Pakistani Family. 61
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Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases. 61
30643024 2019
385
Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study. 61
30926199 2019
386
Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2. 61
30807887 2019
387
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. 61
30706531 2019
388
Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain). 61
30569560 2019
389
Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum. 61
30653784 2019
390
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model. 61
30882371 2019
391
Enhancing folic acid metabolism suppresses defects associated with loss of Drosophila mitofusin. 61
30911005 2019
392
Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ. 61
30785048 2019
393
A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction. 61
30680856 2019
394
Finding a new balance to cure Charcot-Marie-Tooth 2A. 61
30882369 2019
395
Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease: Intermediate or axonal? 61
30873681 2019
396
Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease. 61
30394614 2019
397
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. 61
30177296 2019
398
Outcome measures in the clinical evaluation of ambulatory Charcot-Marie-Tooth 1A subjects. 61
29898585 2019
399
X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association. 61
30196252 2019
400
Dropped head syndrome as a manifestation of Charcot-Marie-Tooth disease type 4C. 61
30658898 2019
401
A network of chaperones prevents and detects failures in membrane protein lipid bilayer integration. 61
30737405 2019
402
TRIM2, a novel member of the antiviral family, limits New World arenavirus entry. 61
30726215 2019
403
A role for KCC3 in maintaining cell volume of peripheral nerve fibers. 61
29366908 2019
404
Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan. 61
30257968 2019
405
Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population. 61
30683433 2019
406
Body composition and its association with physical performance, quality of life, and clinical indictors in Charcot-Marie-Tooth disease: a pilot study. 61
29096547 2019
407
Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population - response. 61
30683432 2019
408
Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot-Marie-Tooth disease. 61
30265406 2019
409
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking. 61
31680794 2019
410
DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria. 61
31110700 2019
411
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset. 61
31356216 2019
412
Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR. 61
30726272 2019
413
Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report and Review of Literature. 61
29877907 2019
414
The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C. 61
31346473 2019
415
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. 61
30958311 2019
416
A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms. 61
31068899 2019
417
Role of Connexin-Based Gap Junction Channels in Communication of Myelin Sheath in Schwann Cells. 61
30881289 2019
418
William Barnett Warrington (1869-1919). 61
31574512 2019
419
Mesoporous Silica Nanospheres Impregnated with 12-Phosphotungstic Acid as Inorganic Filler of Nafion Membrane for Proton Exchange Membrane Fuel Cells. 61
30327007 2019
420
Neuropathy-related mutations alter the membrane binding properties of the human myelin protein P0 cytoplasmic tail. 61
31173589 2019
421
Clinical validity of novel postural stabilization experimental indices based on hyperbolic transformation. 61
30380504 2019
422
Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study. 61
31188833 2019
423
Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model. 61
31772832 2019
424
Peripheral Demyelinating Diseases: From Biology to Translational Medicine. 61
30941082 2019
425
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons. 61
30663652 2019
426
The Cytoskeleton as a Modulator of Aging and Neurodegeneration. 61
31493230 2019
427
Schwann Cell and the Pathogenesis of Charcot-Marie-Tooth Disease. 61
31760652 2019
428
Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A). 61
30650121 2019
429
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. 61
29653220 2019
430
Foot measures in patients with pes cavus with and without charcot-marie-tooth disease: A pilot study. 61
30039580 2019
431
Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp). 61
31127728 2019
432
[Analysis of GDAP1 gene mutation in a pedigree with autosomal dominant Charcot-Marie-Tooth disease]. 61
30692068 2019
433
Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene. 61
30889162 2019
434
Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1. 61
29998508 2018
435
SACS variants are a relevant cause of autosomal recessive hereditary motor and sen