| 1 |
Novel pregnancy-triggered episodes of CAPOS syndrome.
24
|
Chang IJ...Glass IA
|
29090527 |
2018 |
| 2 |
Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
24
|
Yano ST...Acsadi G
|
28647130 |
2017 |
| 3 |
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients.
24
|
Pisciotta L...De Grandis E
|
28249736 |
2017 |
| 4 |
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family.
24
|
Duat Rodriguez A...Gonzalez-Gutierrez-Solana L
|
28483396 |
2017 |
| 5 |
Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.
24
|
Rosewich H...Swoboda K
|
28293679 |
2017 |
| 6 |
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.
24
|
Jaffer F...Sisodiya SM
|
28382329 |
2017 |
| 7 |
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
24
|
Westenberger A...Klein C
|
27931826 |
2017 |
| 8 |
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
24
|
Hully M...Bahi-Buisson N
|
27726050 |
2017 |
| 9 |
Recognizable facial features in patients with alternating hemiplegia of childhood.
24
|
Gurrieri F...Neri G
|
27312461 |
2016 |
| 10 |
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
24
|
Smedemark-Margulies N...Gonzalez-Heydrich J
|
27626066 |
2016 |
| 11 |
A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum.
24
|
Pereira P...Monteiro JP
|
30713930 |
2016 |
| 12 |
Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.
24
|
de Gusmao CM...Sharma N
|
30363590 |
2016 |
| 13 |
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.
24
|
Maas RP...van de Warrenburg BP
|
27091223 |
2016 |
| 14 |
ATP1A3 Mutation in Adult Rapid-Onset Ataxia.
24
|
Sweadner KJ...Brashear A
|
26990090 |
2016 |
| 15 |
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
24
|
Dard R...Mochel F
|
26400718 |
2015 |
| 16 |
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
24
|
Heimer G...Zeev BB
|
25895915 |
2015 |
| 17 |
CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation.
24
|
Potic A...Padiath QS
|
26453127 |
2015 |
| 18 |
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
24
|
Jaffer F...Sisodiya SM
|
26297560 |
2015 |
| 19 |
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
24
|
Panagiotakaki E...International AHC Consortium
|
26410222 |
2015 |
| 20 |
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
24
|
Paciorkowski AR...Hahn S
|
25656163 |
2015 |
| 21 |
Failure of Pallidal Deep Brain Stimulation in a Case of Rapid-Onset Dystonia Parkinsonism (DYT12).
24
|
Brucke C...Kuhn AA
|
30713884 |
2015 |
| 22 |
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.
24
|
Roubergue A...Doummar D
|
24532324 |
2015 |
| 23 |
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.
24
|
Termsarasab P...Frucht SJ
|
26417536 |
2015 |
| 24 |
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
24
|
Viollet L...Swoboda KJ
|
25996915 |
2015 |
| 25 |
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.
24
|
Boelman C...Minassian BA
|
25439493 |
2014 |
| 26 |
Two novel SCN1A mutations identified in families with familial hemiplegic migraine.
24
|
Weller CM...van den Maagdenberg AM
|
24707016 |
2014 |
| 27 |
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.
24
|
Vila-Pueyo M...Macaya A
|
24996492 |
2014 |
| 28 |
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.
24
|
Rosewich H...Brockmann K
|
25056583 |
2014 |
| 29 |
Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.
24
|
Oblak AL...Ghetti B
|
24803225 |
2014 |
| 30 |
A novel ATP1A3 mutation with unique clinical presentation.
24
|
Rosewich H...Brockmann K
|
24713507 |
2014 |
| 31 |
Distinct neurological disorders with ATP1A3 mutations.
24
|
Heinzen EL...ATP1A3 Working Group
|
24739246 |
2014 |
| 32 |
Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.
24
|
Ulate-Campos A...Campistol J
|
24491413 |
2014 |
| 33 |
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
24
|
Rosewich H...Brockmann K
|
24523486 |
2014 |
| 34 |
Cognitive impairment in rapid-onset dystonia-parkinsonism.
24
|
Cook JF...Brashear A
|
24436111 |
2014 |
| 35 |
Genotype-phenotype correlations in alternating hemiplegia of childhood.
24
|
Sasaki M...Hirose S
|
24431296 |
2014 |
| 36 |
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
24
|
Yang X...Zhang Y
|
24842602 |
2014 |
| 37 |
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
24
|
Demos MK...FORGE Canada Consortium
|
24468074 |
2014 |
| 38 |
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
24
|
Sasaki M...Hirose S
|
24123283 |
2014 |
| 39 |
Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome.
24
|
Kim DW...Lee SK
|
23916143 |
2013 |
| 40 |
The multiple faces of the ATP1A3-related dystonic movement disorder.
24
|
Roubergue A...Nicole S
|
23483595 |
2013 |
| 41 |
Phenomenology and classification of dystonia: a consensus update.
24
|
Albanese A...Teller JK
|
23649720 |
2013 |
| 42 |
Alternating hemiplegia of childhood.
24
|
Kansagra S...Vigevano F
|
23622289 |
2013 |
| 43 |
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
24
|
Brashear A...Morrison L
|
22924536 |
2012 |
| 44 |
Psychiatric disorders in rapid-onset dystonia-parkinsonism.
24
|
Brashear A...McCall WV
|
22933743 |
2012 |
| 45 |
Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate.
24
|
Chi LY...Wang SJ
|
22494152 |
2012 |
| 46 |
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
24
|
Heinzen EL...Goldstein DB
|
22842232 |
2012 |
| 47 |
New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.
24
|
Barbano RL...Brashear A
|
22534615 |
2012 |
| 48 |
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.
24
|
Panagiotakaki E...Arzimanoglou A
|
20974617 |
2010 |
| 49 |
The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site.
24
|
Einholm AP...Vilsen B
|
20576601 |
2010 |
| 50 |
Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking.
24
|
Tarsy D...Song PC
|
20558373 |
2010 |
