Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
about
More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia SyndromesDiagnosis and treatment of dystoniaClinical spectrum of dopa-responsive dystonia and related disordersA-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicityLong non-coding RNA and alternative splicing modulations in Parkinson's leukocytes identified by RNA sequencing.Recent developments in dystonia.Recent advances in genetics of choreaAtaxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.Dopa-responsive dystonia--clinical and genetic heterogeneity.Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.Ataxia-telangiectasia: recommendations for multidisciplinary treatment.Clinical variability in ataxia-telangiectasia.Treatable inherited rare movement disorders.Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.Dopa-responsive dystonia presenting with predominant hemifacial dystonia.Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment OptionsAtaxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia
P2860
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P2860
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
description
2013 nî lūn-bûn
@nan
2013 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
@ast
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
@en
type
label
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
@ast
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
@en
prefLabel
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
@ast
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
@en
P2093
P2860
P50
P1433
P1476
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
@en
P2093
Gavin Charlesworth
Mahavir D Mohire
Susanne A Schneider
P2860
P304
P356
10.1212/WNL.0B013E3182A55FA2
P407
P577
2013-08-14T00:00:00Z