ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene

2021 ◽  
Author(s):  
Ana Cazurro-Gutiérrez ◽  
Anna Marcé-Grau ◽  
Marta Correa-Vela ◽  
Ainara Salazar ◽  
María I. Vanegas ◽  
...  
Keyword(s):  
Myoclonus Dystonia

Myoclonus dystonia without dystonia

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
M Baumgartner
Keyword(s):  
Myoclonus Dystonia

Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome

2019 ◽  
Vol 703 ◽  
pp. 1-4 ◽  
Author(s):  
Laila Rachad ◽  
Hicham El Otmani ◽  
Adnane Karkar ◽  
Bouchra El Moutawakil ◽  
Nadia El Kadmiri ◽  
...  
Keyword(s):  
Myoclonus Dystonia

scholarly journals Disorganized Sensorimotor Integration in Mutation-Positive Myoclonus-Dystonia

2010 ◽  
Vol 67 (4) ◽  
Author(s):  
Richard J. Beukers ◽  
Elisabeth M. J. Foncke ◽  
Johan N. van der Meer ◽  
Aart J. Nederveen ◽  
Michiel B. de Ruiter ◽  
...  
Keyword(s):  
Sensorimotor Integration ◽  
Myoclonus Dystonia

Myoclonus–dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ɛ-sarcoglycan gene

2007 ◽  
Vol 22 (8) ◽  
pp. 1173-1175 ◽  
Author(s):  
Anjum Misbahuddin ◽  
Mark Placzek ◽  
Graham Lennox ◽  
Jan-Willem Taanman ◽  
Thomas T. Warner
Keyword(s):  
Severe Depression ◽  
Exon Skipping ◽  
Myoclonus Dystonia

Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation

2017 ◽  
Vol 82 (4) ◽  
pp. 543-553 ◽  
Author(s):  
Anne Weissbach ◽  
Elisa Werner ◽  
Julien F. Bally ◽  
Sinem Tunc ◽  
Sebastian Löns ◽  
...  
Keyword(s):  
Electrophysiological Investigation ◽  
Learning Deficit ◽  
Cerebellar Learning ◽  
Myoclonus Dystonia

scholarly journals ARE PSYCHIATRIC SYMPTOMS A CORE PHENOTYPE OF MYOCLONUS DYSTONIA SYNDROME CAUSED BY SGCE MUTATIONS?

2013 ◽  
Vol 84 (9) ◽  
pp. e1-e1
Author(s):  
K. Peall ◽  
D. Smith ◽  
M. Kurian ◽  
M. Wardle ◽  
A. Waite ◽  
...  
Keyword(s):  
Psychiatric Symptoms ◽  
Myoclonus Dystonia

scholarly journals NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement

2018 ◽  
Vol 9 ◽  
Author(s):  
Péter Balicza ◽  
Zoltán Grosz ◽  
Viktor Molnár ◽  
Anett Illés ◽  
Dora Csabán ◽  
...  
Keyword(s):  
New Mutation ◽  
Myoclonus Dystonia

Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome

10.1038/ng709 ◽  
2001 ◽  
Vol 29 (1) ◽  
pp. 66-69 ◽  
Author(s):  
Alexander Zimprich ◽  
Monika Grabowski ◽  
Friedrich Asmus ◽  
Markus Naumann ◽  
Daniela Berg ◽  
...  
Keyword(s):  
Gene Encoding ◽  
Myoclonus Dystonia
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