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Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

OBJECTIVE: To identify and characterize the molecular basis of a syndrome associated with myasthenia, cortical hyperexcitability, cerebellar ataxia, and intellectual disability. METHODS: We performed in vitro microelectrode studies of neuromuscular transmission, performed exome and Sanger sequencing...

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Publicat a:Neurology
Autors principals: Shen, Xin-Ming, Selcen, Duygu, Brengman, Joan, Engel, Andrew G.
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4277673/
https://ncbi.nlm.nih.gov/pubmed/25381298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001079
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