about
Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort.Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force.SGCE mutations cause psychiatric disorders: clinical and genetic characterizationAlcohol in essential tremor and other movement disorders.SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.Movement disorders and alcohol misuse.Metabolic changes in DYT11 myoclonus-dystonia.Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromesMyoclonus-dystonia: an update.EFNS guidelines on diagnosis and treatment of primary dystonias.Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE.Essential pitfalls in "essential" tremor.Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.Speech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus-Dystonia Syndrome.Screening of mutations in NOL3 in a myoclonic syndromes series.The diagnostic challenge of primary dystonia: evidence from misdiagnosis.Primary Myoclonus-Dystonia: A Diagnosis Often Missed in Children.Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.Myoclonic Disorders.Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
The epsilon-sarcoglycan gene in myoclonic syndromes
@ast
The epsilon-sarcoglycan gene in myoclonic syndromes
@en
The epsilon-sarcoglycan gene in myoclonic syndromes
@nl
type
label
The epsilon-sarcoglycan gene in myoclonic syndromes
@ast
The epsilon-sarcoglycan gene in myoclonic syndromes
@en
The epsilon-sarcoglycan gene in myoclonic syndromes
@nl
prefLabel
The epsilon-sarcoglycan gene in myoclonic syndromes
@ast
The epsilon-sarcoglycan gene in myoclonic syndromes
@en
The epsilon-sarcoglycan gene in myoclonic syndromes
@nl
P2093
P3181
P1433
P1476
The epsilon-sarcoglycan gene in myoclonic syndromes
@en
P2093
Dallapiccola B
DiGiorgio A
Edwards MJ
P304
P3181
P356
10.1212/01.WNL.0000151979.68010.9B
P407
P577
2005-02-01T00:00:00Z