Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited-Reference-Cited by-同舟云学术

Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited

Published:2015-10 Issue:10 Volume:21 Page:1256-1259
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Dobričić Valerija,Kresojević Nikola,Žarković Milena,Tomić Aleksandra,Marjanović Ana,Westenberger Ana,Cvetković Dragana,Svetel Marina,Novaković Ivana,Kostić Vladimir S.

Funder

Ministry of Education and Science

Fritz Thyssen Foundation (AW)

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference12 articles.

1. Genetics in dystonia;Klein;Park. Relat. Disord.,2014

2. DYT1 early-onset primary dystonia;Ozelius,1999

3. Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia;Calakos;J. Med. Genet.,2010

4. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT 1);Zirn;J. Neurol. Neurosurg. Psychiatry,2008

5. Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations;Vulinovic;Hum. Mutat.,2014

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