Increased diagnostic yield in complex dystonia through exome sequencing-Reference-Cited by-同舟云学术

Increased diagnostic yield in complex dystonia through exome sequencing

Published:2020-05 Issue: Volume:74 Page:50-56
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Wirth Thomas,Tranchant Christine,Drouot Nathalie,Keren Boris,Mignot Cyril,Cif Laura,Lefaucheur Romain,Lion-François Laurence,Méneret Aurélie,Gras Domitille,Roze Emmanuel,Laroche Cécile,Burbaud Pierre,Bannier Stéphanie,Lagha-Boukbiza Ouhaid,Spitz Marie-Aude,Laugel Vincent,Bereau Matthieu,Ollivier Emmanuelle,Nitschke Patrick,Doummar Diane,Rudolf Gabrielle,Anheim Mathieu,Chelly Jamel

Funder

Association France Parkinson

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference12 articles.

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2. French Parkinson's and movement disorders consortium, assessment of a targeted gene panel for identification of genes associated with movement disorders;Montaut;JAMA Neurol.,2018

3. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome;Dimassi;Clin. Genet.,2016

4. Phenomenology and classification of dystonia: a consensus update;Albanese;Mov. Disord.,2013

5. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly;Poirier;Nat. Genet.,2013

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