Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations - sprookjes - yvandenbroek - TriplyDB

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

http://www.wikidata.org/entity/Q28211248

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Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome.High-throughput mutational analysis of TOR1A in primary dystonia Pre-synaptic release deficits in a DYT1 dystonia mouse model.Behavioral and electrophysiological characterization of Dyt1 heterozygous knockout mice.Neurogenetics: single gene disorders.Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out Movement disorders and alcohol misuse.Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes The genetics of dystonias.Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene.Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).Sporadic and familial myoclonic dystonia: Report of three cases and review of literature Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.Membrane defects and genetic redundancy: Are we at a turning point for DYT1 dystonia?Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.

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P2860

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

http://www.wikidata.org/entity/Q28211248

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2002 nî lūn-bûn

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2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

@zh-hk

2002年論文

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2002年論文

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2002年论文

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name

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

@ast

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

@en

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

@nl

type

label

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

@ast

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

@en

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

@nl

prefLabel

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

@ast

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

@en

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

@nl

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Annals of Neurology

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Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

@en

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Birgitt Müller

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Chris Morrison

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Christopher Smith

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Dana Doheny

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Deborah de Leon

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Eberhard Schwinger

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Fabio Danisi

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Jeremy Silverman

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Joanne Leung

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Laurie J Ozelius

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P2860

Genetics of Hirschsprung disease

Sarcoglycan isoforms in skeletal muscle

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families.

Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.

Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

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675-9

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scholarly article

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1643471

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10.1002/ANA.10358

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P433

5

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52

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Christine Klein

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2002-11-01T00:00:00Z

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P698

12402271

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