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Article

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

JAMA neurology - 1 Oct 2018

Montaut Solveig, Tranchant Christine, Drouot Nathalie, Rudolf Gabrielle, Guissart Claire, Tarabeux Julien, Stemmelen Tristan, Velt Amandine, Fourrage Cécile, Nitschké Patrick, Gerard Bénédicte, Mandel Jean-Louis, Koenig Michel, Chelly Jamel, Anheim Mathieu

Abstract excerpt

Importance: Movement disorders are characterized by a marked genotypic and phenotypic heterogeneity, complicating diagnostic work in clinical practice and molecular diagnosis. Objective: To develop and evaluate a targeted sequencing approach using a customized panel of genes involved in movement disorders. Design, Setting and Participants: We selected 127 genes associated with movement disorders to create a...

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Identifiers

PMID: 29913018
DOI: 10.1001/jamaneurol.2018.1478
PMCID: PMC6233854

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