{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T02:23:51Z","timestamp":1791685431263,"version":"4.3.4"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T00:00:00Z","timestamp":1702252800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T00:00:00Z","timestamp":1702252800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1007\/s12098-023-04957-3","type":"journal-article","created":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T06:02:06Z","timestamp":1702274526000},"page":"1274-1277","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["ASAH1\u00a0Variants Causing Spinal Muscular Atrophy Phenotype"],"prefix":"10.1007","volume":"91","author":[{"given":"Arvinder","family":"Wander","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankit Kumar","family":"Meena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawan Kumar","family":"Ghangoriya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Biswaroop","family":"Chakrabarty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prashant","family":"Jauhari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheffali","family":"Gulati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,12,11]]},"reference":[{"key":"4957_CR1","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1016\/j.ajhg.2012.05.001","volume":"91","author":"J Zhou","year":"2012","unstructured":"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\u201314.","journal-title":"Am J Hum Genet"},{"key":"4957_CR2","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/S0960-8966(02)00211-0","volume":"13","author":"K Zerres","year":"2003","unstructured":"Zerres K, Rudnik-Sch\u00f6neborn S. 93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA)\u2013clinical picture (6\u20138 April 2001, Naarden, The Netherlands). Neuromuscul Disord. 2003;13:179\u201383.","journal-title":"Neuromuscul Disord"},{"key":"4957_CR3","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1016\/j.nmd.2015.09.007","volume":"25","author":"JJ Gan","year":"2015","unstructured":"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\u201363.","journal-title":"Neuromuscul Disord"},{"key":"4957_CR4","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1186\/1755-7682-7-42","volume":"7","author":"DS Liyanage","year":"2014","unstructured":"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.","journal-title":"Int Arch Med"},{"key":"4957_CR5","doi-asserted-by":"publisher","first-page":"S128","DOI":"10.1684\/epd.2016.0858","volume":"18","author":"H Topaloglu","year":"2016","unstructured":"Topaloglu H, Melki J. Spinal muscular atrophy associated with progressive myoclonus epilepsy. Epileptic Disord. 2016;18:S128\u201334.","journal-title":"Epileptic Disord"},{"key":"4957_CR6","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1002\/ana.410060309","volume":"6","author":"J Jankovic","year":"1979","unstructured":"Jankovic J, Rivera VM. Hereditary myoclonus and progressive distal muscular atrophy. Ann Neurol. 1979;6:227\u201331.","journal-title":"Ann Neurol"},{"key":"4957_CR7","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1111\/epi.12977","volume":"56","author":"G Rubboli","year":"2015","unstructured":"Rubboli G, Veggiotti P, Pini A, et al. Spinal muscular atrophy associated with progressive myoclonic epilepsy: a rare condition caused by mutations in ASAH1. Epilepsia. 2015;56:692\u20138.","journal-title":"Epilepsia"},{"key":"4957_CR8","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1111\/cge.12307","volume":"86","author":"DA Dyment","year":"2014","unstructured":"Dyment DA, Sell E, Vanstone MR, et al. Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet. 2014;86:558\u201363.","journal-title":"Clin Genet"},{"key":"4957_CR9","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1016\/j.nmd.2022.08.002","volume":"32","author":"P Karimzadeh","year":"2022","unstructured":"Karimzadeh P, Najmabadi H, Lochmuller H, et al. Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature. Neuromuscul Disord. 2022;32:806\u201310.","journal-title":"Neuromuscul Disord"},{"key":"4957_CR10","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1002\/ana.24170","volume":"76","author":"N Vanni","year":"2014","unstructured":"Vanni N, Fruscione F, Ferlazzo E, et al. Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. Ann Neurol. 2014;76:206\u201312.","journal-title":"Ann Neurol"}],"container-title":["Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-023-04957-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12098-023-04957-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-023-04957-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T18:12:31Z","timestamp":1731953551000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12098-023-04957-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,11]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["4957"],"URL":"https:\/\/doi.org\/10.1007\/s12098-023-04957-3","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,11]]},"assertion":[{"value":"27 August 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 November 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 December 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}