Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare auto...

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Bibliografiska uppgifter
Huvudupphovsmän: Zhou, Jie, Tawk, Marcel, Tiziano, Francesco Danilo, Veillet, Julien, Bayes, Monica, Nolent, Flora, Garcia, Virginie, Servidei, Serenella, Bertini, Enrico, Castro-Giner, Francesc, Renda, Yavuz, Carpentier, Stéphane, Andrieu-Abadie, Nathalie, Gut, Ivo, Levade, Thierry, Topaloglu, Haluk, Melki, Judith
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2012
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3397266/
https://ncbi.nlm.nih.gov/pubmed/22703880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.05.001
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