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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2012
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi