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Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

OBJECTIVE: To identify the molecular basis of a fatal syndrome of microcephaly, cortical hyperexcitability, and myasthenia. METHODS: We performed clinical and in vitro microelectrode studies of neuromuscular transmission, examined neuromuscular junctions cytochemically and by electron microscopy (EM...

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Detalles Bibliográficos
Autores principales:	Engel, Andrew G., Selcen, Duygu, Shen, Xin-Ming, Milone, Margherita, Harper, C. Michel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017540/ https://www.ncbi.nlm.nih.gov/pubmed/27648472 http://dx.doi.org/10.1212/NXG.0000000000000105

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