ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-023-04957-3.pdf
Reference10 articles.
1. Zhou J, Tawk M, Tiziano FD, et al. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am J Hum Genet. 2012;91:5–14.
2. Zerres K, Rudnik-Schöneborn S. 93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA)–clinical picture (6–8 April 2001, Naarden, The Netherlands). Neuromuscul Disord. 2003;13:179–83.
3. Gan JJ, Garcia V, Tian J, et al. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. Neuromuscul Disord. 2015;25:959–63.
4. Liyanage DS, Pathberiya LS, Gooneratne IK, Vithanage KK, Gamage R. Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family. Int Arch Med. 2014;7:42.
5. Topaloglu H, Melki J. Spinal muscular atrophy associated with progressive myoclonus epilepsy. Epileptic Disord. 2016;18:S128–34.
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