ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
about
The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and SenescenceGenetics in dystonia: an updateNovel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.ATP1A3 Mutation in Adult Rapid-Onset AtaxiaAlternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryResearch conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblingsDistinct neurological disorders with ATP1A3 mutationsIdentification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patientsDe novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Cognitive impairment in rapid-onset dystonia-parkinsonismFamilial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.Episodic movement disorders: from phenotype to genotype and back.Parkinsonism and inborn errors of metabolism.The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.P2C-Type ATPases and Their Regulation.Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases.A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.Mosaicism in ATP1A3-related disorders: not just a theoretical risk.A Portuguese rapid-onset dystonia-parkinsonism case with atypical features.The multiple faces of the ATP1A3-related dystonic movement disorder.
P2860
Q26745558-206AB8E1-8916-4E73-99DC-5C83B4709EFDQ26866453-8CE7C85E-6EDF-4F29-8BB8-4EDFE19BD066Q27312451-F45F7274-9FE0-4679-87B0-EF25024FB166Q27317321-7267AE25-1F9F-4B40-8BFB-A3B5E680BE8FQ30299903-CC357D58-B3E2-4B60-96E4-AE6111A117E2Q30840535-F117D347-7B43-4BE2-BD86-7132EBB3AC66Q33764538-3CF14292-C295-454D-AEBA-4439E00D5792Q34546995-54B17CC3-B495-49CB-935A-6431FB0B0152Q34586667-D5E1C41F-9129-4706-88F7-60F10250FBC2Q36094652-CAF698D8-CA4B-4128-B1A0-753A6694C3CDQ37260425-FBE9D417-8876-4625-84F9-CBFEE7CC28F9Q37619548-597C62C6-19BD-4ACA-A361-56AE7A3DE1E9Q37649763-D1B616BB-8176-4EFA-9AFD-E845A8B6E8F8Q37723127-42F68C77-0D8E-4568-8886-C1BFB30550B0Q38130456-478AB2C5-96C6-4FD1-AC95-41366059359FQ38218281-B2EB6A63-FB8B-4227-968D-FF87082FF82DQ38275252-E0DBCDE1-C1C0-4A66-8AA8-FBD3EBAC9EBBQ38336151-301C6DB8-6420-420C-A5B8-0BE0971E4401Q38341164-21CA8DF9-588D-4228-840B-4886608A4A01Q38431638-C2E7D5B8-DAA9-4C5C-B3E9-E83AFCF7AD9DQ40138002-2CDF4C93-329C-4E70-9025-D304379D45B7Q41816343-CAA4FA7A-8737-4BBF-8ED9-B17D38CA1B14Q44898847-BE07E126-9D3E-4DE3-BFB6-E670B39694CDQ48922587-1B1C6C33-9C60-4208-9FAA-0C9E7047522CQ50313594-92169BDD-0CD4-4DF9-9F05-FF6771A4300AQ50346732-2C713C68-6D6A-4F66-85A8-8AED8D5DD904Q54268864-6396C396-DD1A-4590-BB95-9A632E5DF804
P2860
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
description
2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
ATP1A3 mutations in infants: a ...... ized by motor delay and ataxia
@nl
ATP1A3 mutations in infants: a ...... zed by motor delay and ataxia.
@ast
ATP1A3 mutations in infants: a ...... zed by motor delay and ataxia.
@en
type
label
ATP1A3 mutations in infants: a ...... ized by motor delay and ataxia
@nl
ATP1A3 mutations in infants: a ...... zed by motor delay and ataxia.
@ast
ATP1A3 mutations in infants: a ...... zed by motor delay and ataxia.
@en
prefLabel
ATP1A3 mutations in infants: a ...... ized by motor delay and ataxia
@nl
ATP1A3 mutations in infants: a ...... zed by motor delay and ataxia.
@ast
ATP1A3 mutations in infants: a ...... zed by motor delay and ataxia.
@en
P2093
P2860
P3181
P1476
ATP1A3 mutations in infants: a ...... ized by motor delay and ataxia
@en
P2093
Allison Brashear
Beverly Snively
Deborah F Hill
Jonathan W Mink
Kathleen J Sweadner
Laney S Light
Laurie J Ozelius
Mark A Stacy
Niki Boggs
P2860
P304
P3181
P356
10.1111/J.1469-8749.2012.04421.X
P407
P577
2012-08-28T00:00:00Z