Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Jean-Loup Méreaux; Claire-Sophie Davoine; Marie Coutelier; Léna Guillot-Noël; Anna Castrioto; Perrine Charles; Giulia Coarelli; Claire Ewenczyk; Stephan Klebe; Anna Heinzmann; Aurélie Méneret; Anne-Laure Fauret-Amsellem; Jean-Madeleine de Sainte Agathe; Alexis Brice; Alexandra Durr

doi:10.1136/jmg-2022-108924

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Neurogenetics

Short report

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Authors

Jean-Loup Méreaux Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Claire-Sophie Davoine Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Marie Coutelier Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Léna Guillot-Noël Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Anna Castrioto Department of Neurology, University Hospital Centre Grenoble Alpes, Grenoble, France PubMed articles Google scholar articles
Perrine Charles Genetics Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Giulia Coarelli Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Claire Ewenczyk Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Stephan Klebe Department of Neurology, University Hospital Essen, Essen, Germany PubMed articles Google scholar articles
Anna Heinzmann Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Aurélie Méneret Neurology Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Anne-Laure Fauret-Amsellem Molecular and Cellular Neurogenetics Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Jean-Madeleine de Sainte Agathe Molecular and Cellular Neurogenetics Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Alexis Brice Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles
Alexandra Durr Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France PubMed articles Google scholar articles

Correspondence to Professor Alexandra Durr, Sorbonne Université, Paris 75013, France; alexandra.durr{at}icm-institute.org

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Citation

Méreaux J, Davoine C, Coutelier M, et al

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Journal of Medical Genetics 2023;60:717-721.

Publication history

Received September 7, 2022
Accepted November 20, 2022
First published January 4, 2023.

Online issue publication

June 21, 2023

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