The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
about
More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia SyndromesA novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.Recent developments in dystonia.Recent advances in genetics of choreaGenetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.Ataxia-telangiectasia: recommendations for multidisciplinary treatment.Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.Clinical variability in ataxia-telangiectasia.Myoclonus in ataxia-telangiectasia.Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.Treatable inherited rare movement disorders.Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.ATM Gene Mutation Detection Techniques and Functional Analysis.
P2860
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P2860
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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name
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
@en
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
@nl
type
label
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
@en
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
@nl
prefLabel
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
@en
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
@nl
P2093
P50
P1433
P1476
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
@en
P2093
Alain Fischer
Baya Benyahia
Bertrand Degos
Bertrand Gaymard
Catherine Dubois d'Enghien
Christine Tranchant
David Grabli
Emmanuelle Apartis
Felipe Suarez
Guillaume Rieunier
P304
P356
10.1212/WNL.0000000000000794
P407
P50
P577
2014-08-13T00:00:00Z