Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies-Reference-Cited by-同舟云学术

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Published:2019-03 Issue:3 Volume:21 Page:553-563
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Valence Stéphanie,Cochet Emmanuelle,Rougeot Christelle,Garel Catherine,Chantot-Bastaraud Sandra,Lainey Elodie,Afenjar Alexandra,Barthez Marie-Anne,Bednarek Nathalie,Doummar Diane,Faivre Laurence,Goizet Cyril,Haye Damien,Heron Bénédicte,Kemlin Isabelle,Lacombe Didier,Milh Mathieu,Moutard Marie-Laure,Riant Florence,Robin Stéphanie,Roubertie Agathe,Sarda Pierre,Toutain Annick,Villard Laurent,Ville Dorothée,Billette de Villemeur Thierry,Rodriguez Diana,Burglen Lydie

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-018-0089-2.pdf

Reference39 articles.

1. Congenital cerebellar ataxia;Batten;Clin J,1903

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