Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes | Zendy

Marie Coutelier | Zendy; Monia Hammer | Zendy; Giovanni Stévanin | Zendy; MarieLorraine Monin | Zendy; Claire-Sophie Davoine | Zendy; Fanny Mochel | Zendy; Pierre Labauge | Zendy; Claire Ewenczyk | Zendy; Jinhui Ding | Zendy; J. Raphael Gibbs | Zendy; Didier Hannequin | Zendy; Judith Melki | Zendy; Annick Toutain | Zendy; Vincent Laugel | Zendy; Sylvie Forlani | Zendy; Perrine Charles | Zendy; Emmanuel Broussolle | Zendy; Stéphane Thobois | Zendy; Alexandra Afenjar | Zendy; Mathieu Anheim | Zendy; Patrick Calvas | Zendy; Giovanni Castelnovo | Zendy; T. de Broucker | Zendy; Marie Vidailhet | Zendy; Antoine Moulignier | Zendy; Robert T. Ghnassia | Zendy; Chantal Tallaksen | Zendy; Cyril Mignot | Zendy; Cyril Goizet | Zendy; Isabelle Le Ber | Zendy; Elisabeth OllagRoman | Zendy; Jean Pouget | Zendy; Alexis Brice | Zendy; Andrew Singleton | Zendy; Alexandra Dürr | Zendy

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Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Author(s) -

Marie Coutelier,

Monia Hammer,

Giovanni Stévanin,

MarieLorraine Monin,

Claire-Sophie Davoine,

Fanny Mochel,

Pierre Labauge,

Claire Ewenczyk,

Jinhui Ding,

J. Raphael Gibbs,

Didier Hannequin,

Judith Melki,

Annick Toutain,

Vincent Laugel,

Sylvie Forlani,

Perrine Charles,

Emmanuel Broussolle,

Stéphane Thobois,

Alexandra Afenjar,

Mathieu Anheim,

Patrick Calvas,

Giovanni Castelnovo,

T. de Broucker,

Marie Vidailhet,

Antoine Moulignier,

Robert T. Ghnassia,

Chantal Tallaksen,

Cyril Mignot,

Cyril Goizet,

Isabelle Le Ber,

Elisabeth OllagRoman,

Jean Pouget,

Alexis Brice,

Andrew Singleton,

Alexandra Dürr

Publication year - 2018

Publication title -

jama neurology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.298

H-Index - 231

eISSN - 2168-6157

pISSN - 2168-6149

DOI - 10.1001/jamaneurol.2017.5121

Subject(s) - exome sequencing , cohort , cerebellar ataxia , medicine , ataxia , hereditary spastic paraplegia , spinocerebellar ataxia , spastic , disease gene identification , pediatrics , genetics , mutation , bioinformatics , disease , biology , gene , phenotype , psychiatry , cerebral palsy

Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators to reach a genetic conclusion.

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