Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

Author:

Maréchal Lucie,Raux Grégory,Dumanchin Cécile,Lefebvre Guillaume,Deslandre Emmanuelle,Girard Carole,Campion Dominique,Parain Dominique,Frebourg Thierry,Hannequin Didier

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Reference17 articles.

1. Inherited myoclonus-dystonia syndrome: Narrowing the 7q21-q31 locus in German families;Asmus;Ann Neurol,2001

2. The unified myoclonus rating scale;Frucht;Adv Neurol,2002

3. Inherited myoclonus-dystonia syndrome;Gasser;Adv Neurol,1998

4. Detecting anxiety and depression in general medical settings;Goldberg;BMJ,1988

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1. Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction;Movement Disorders;2019-08-26

2. E;Synopsis of Neurology, Psychiatry and Related Systemic Disorders;2019-05-23

3. Nonmotor Symptoms in Dystonia;International Review of Neurobiology;2017

4. Myoclonus;Movement Disorders in Childhood;2016

5. Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment;Parkinsonism & Related Disorders;2015-09

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