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

✍ Scribed by Jie Zhou; Marcel Tawk; Francesco Danilo Tiziano; Julien Veillet; Monica Bayes; Flora Nolent; Virginie Garcia; Serenella Servidei; Enrico Bertini; Francesc Castro-Giner; Yavuz Renda; Stéphane Carpentier; Nathalie Andrieu-Abadie; Ivo Gut; Thierry Levade; Haluk Topaloglu; Judith Melki

• Book ID: 116195609
• Publisher: American Society of Human Genetics
• Year: 2012
• Tongue: English
• Weight: 791 KB
• Volume: 91
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2012.05.001