| 1 | ASAH1, SMAPME |
| Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. | |
| Yildiz EP, Yesil G, Bektas G, Caliskan M, Tatlı B, Aydinli N, Ozmen M. | |
| Clin Neurol Neurosurg 164:47-49. doi: 10.1016/j.clineuro.2017.11.008. Epub 2017 Nov 21. 2018 | |
| 2 | ASAH1, SMAPME |
| Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1. | |
| Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini E, Castro-Giner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, Topaloglu H, Melki J. | |
| Am J Hum Genet 91(1):5-14. Epub 2012 Jun 14. 2012 | |
| 3 | SMAPME |
| Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature. | |
| Haliloglu G, Chattopadhyay A, Skorodis L, Manzur A, Mercuri E, Talim B, Akçören Z, Renda Y, Muntoni F, Topaloğlu H. | |
| Neuropediatrics 33(6):314-9. 2002 | |