A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies-Reference-Cited by-同舟云学术

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Published:2017-04-21 Issue:6 Volume:140 Page:1579-1594
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Coutelier Marie,Coarelli Giulia,Monin Marie-Lorraine,Konop Juliette,Davoine Claire-Sophie,Tesson Christelle,Valter Rémi,Anheim Mathieu,Behin Anthony,Castelnovo Giovanni,Charles Perrine,David Albert,Ewenczyk Claire,Fradin Mélanie,Goizet Cyril,Hannequin Didier,Labauge Pierre,Riant Florence,Sarda Pierre,Sznajer Yves,Tison François,Ullmann Urielle,Van Maldergem Lionel,Mochel Fanny,Brice Alexis,Stevanin Giovanni,Durr Alexandra

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/140/6/1579/18186088/awx081.pdf

Reference85 articles.

1. OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus' phenotypes;Brain,2008

2. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23;Am J Hum Genet,2010

3. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans;Hum Mol Genet,2006

4. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families;Am J Hum Genet,2012

5. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23;Am J Hum Genet,2009

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