@article{44401e8579a74afeb21a4788cce6e063,
title = "Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1",
abstract = "To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine amidohydrosilase 1 (ASAH1) gene.",
keywords = "ASAH1 mutations, Myoclonus, Polygraphy, Progressive myoclonus epilepsy, Spinal muscular atrophy, ASAH1 mutations, Myoclonus, Polygraphy, Progressive myoclonus epilepsy, Spinal muscular atrophy",
author = "Tiziano, {Francesco Danilo} and Emanuela Abiusi and Guido Rubboli and Pierangelo Veggiotti and Antonella Pini and Angela Berardinelli and Gaetano Cantalupo and Enrico Bertini and Adele D'Amico and Elena Piazza and Elena Pasini and Francesca Darra and Giuseppe Gobbi and Roberto Michelucci",
year = "2015",
doi = "10.1111/epi.12977",
language = "English",
pages = "1--7",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320",
}