Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
about
De novo mutations in ATP1A3 cause alternating hemiplegia of childhoodThe Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and SenescenceATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.Crystal structure of Na+, K(+)-ATPase in the Na(+)-bound stateResearch conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site.Distinct neurological disorders with ATP1A3 mutationsIdentification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype CorrelationsClinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patientsA case of rapid-onset dystonia-parkinsonism accompanied by pyramidal tract impairment.Milestones in dystonia.Episodic movement disorders: from phenotype to genotype and back.The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.Rescue of Na+ affinity in aspartate 928 mutants of Na+,K+-ATPase by secondary mutation of glutamate 314.Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.The multiple faces of the ATP1A3-related dystonic movement disorder.
P2860
Q24600468-8446B54E-FF77-4528-89A2-D7F1E709B8C0Q26745558-8CABA758-D495-43BF-A033-7E495D3A28B5Q26827365-243978AB-909B-4D54-8669-5FEA67872886Q27686727-BF68317B-EFA6-4CA4-9F2B-6158350DF805Q30840535-190E3972-B74C-464F-B524-840A89AC4B1FQ33633391-77DE28B3-C7B2-41CA-AC97-B329A7AC7CA7Q34074365-1193CC7B-BDF5-4FC5-B572-ADC078EF4D1EQ34546995-B7CD80A2-3D12-48BE-B246-3A0D5BD63FBFQ34586667-F9627284-A138-499F-BAB6-9D6A57A8D9D7Q36081179-648EDDAC-4DEA-463B-8A48-01063C2D8330Q36094652-7DC26FF0-DFAD-46AD-9E1F-0F44A265D243Q36190197-5ED486EC-8B75-41F8-8268-A1416941D52AQ37882600-F7619954-9901-45A7-927D-44E9D3E4496BQ38130456-E471E587-4110-41E3-9728-10A4353A0250Q38275252-D5F12745-E956-496E-B0F7-68CB99067152Q39476257-B471D314-CB89-4D2A-98CB-1827BD7D44ABQ43071665-C31DEFB0-74BF-4E6E-B941-D1AEAB165C73Q47711036-B670F41B-D126-45A3-B3D9-B56FF6F65C0DQ53847409-3E50929F-22A7-4361-9FD0-08C80ACAFB5DQ54268864-7A5A61E7-5F5F-4A37-92B2-893ABAAD3F85
P2860
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
description
2009 nî lūn-bûn
@nan
2009 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
@ast
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
@en
type
label
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
@ast
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
@en
prefLabel
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
@ast
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
@en
P2093
P2860
P1433
P1476
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
@en
P2093
B T Darras
I A Anselm
K J Sweadner
L J Ozelius
S Gollamudi
P2860
P304
P356
10.1212/WNL.0B013E3181B04ACD
P407
P577
2009-08-01T00:00:00Z