A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
about
Ultra-rare Disease and Genomics-Driven Precision MedicineDistribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.Conserved properties of Drosophila Insomniac link sleep regulation and synaptic functionAn additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsRare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositisNeeds and Requirements of Modern Biobanks on the Example of Dystonia Syndromes.Genetics of movement disorders in the next-generation sequencing era.Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.Understanding dystonia: diagnostic issues and how to overcome them.Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.The Rise and Rise of Exome Sequencing.KCTD5 is endowed with large, functionally relevant, interdomain motions.Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.Structural complexity in the KCTD family of Cullin3-dependent E3 ubiquitin ligases.Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.Dystonia.Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus
P2860
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P2860
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
description
2015 nî lūn-bûn
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2015 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունիսին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@ast
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@en
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@en-gb
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@nl
type
label
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@ast
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@en
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@en-gb
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@nl
prefLabel
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@ast
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@en
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@en-gb
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@nl
P2093
P2860
P50
P3181
P1476
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
@en
P2093
Ann-Kathrin Hauser
Anne Weissbach
Anselm Zdebik
Conceição Bettencourt
Daniah Trabzuni
Deborah Hughes
Ebba Lohmann
Giovanna Zorzi
Horia C Stanescu
Huw R Morris
P2860
P304
P3181
P356
10.1016/J.AJHG.2015.04.008
P407
P50
P577
2015-06-04T00:00:00Z