{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:02:55Z","timestamp":1757574175523},"reference-count":15,"publisher":"Elsevier BV","issue":"1-2","content-domain":{"domain":["jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1016\/j.jns.2013.09.015","type":"journal-article","created":{"date-parts":[[2013,9,17]],"date-time":"2013-09-17T09:15:21Z","timestamp":1379409321000},"page":"231-232","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Recurrent de novo c.316G&gt;A mutation in NIPA1 hotspot"],"prefix":"10.1016","volume":"335","author":[{"given":"Peter","family":"Hedera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2013.09.015_bb0005","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2012.03.025","article-title":"Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance","volume":"318","author":"Finsterer","year":"2012","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jns.2013.09.015_bb0010","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1086\/378817","article-title":"NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)","volume":"73","author":"Rainier","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jns.2013.09.015_bb0015","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1111\/j.1468-1331.2011.03359.x","article-title":"NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy","volume":"18","author":"Svenstrup","year":"2011","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.jns.2013.09.015_bb0020","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/j.clineuro.2011.02.011","article-title":"Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1","volume":"113","author":"Du","year":"2011","journal-title":"Clin Neurol Neurosurg"},{"key":"10.1016\/j.jns.2013.09.015_bb0025","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/humu.20126","article-title":"Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families","volume":"25","author":"Chen","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jns.2013.09.015_bb0030","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10048-004-0209-9","article-title":"A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia","volume":"6","author":"Reed","year":"2005","journal-title":"Neurogenetics"},{"key":"10.1016\/j.jns.2013.09.015_bb0035","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1002\/mds.21005","article-title":"Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia","volume":"21","author":"Kaneko","year":"2006","journal-title":"Mov Disord"},{"key":"10.1016\/j.jns.2013.09.015_bb0040","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.jns.2007.09.024","article-title":"Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia","volume":"266","author":"Liu","year":"2008","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jns.2013.09.015_bb0045","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1177\/088307380201700804","article-title":"Genetics of neurofibromatosis 1 and the NF1 gene","volume":"17","author":"Viskochil","year":"2002","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jns.2013.09.015_bb0050","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.pediatrneurol.2007.02.003","article-title":"Infantile onset of hereditary spastic paraplegia poorly predicts the genotype","volume":"36","author":"Blair","year":"2007","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.jns.2013.09.015_bb0055","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1001\/archneur.63.3.445","article-title":"De novo occurrence of novel SPG3A\/atlastin mutation presenting as cerebral palsy","volume":"63","author":"Rainier","year":"2006","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jns.2013.09.015_bb0060","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1055\/s-2008-1040846","article-title":"Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation","volume":"19","author":"Fink","year":"1999","journal-title":"Semin Neurol"},{"key":"10.1016\/j.jns.2013.09.015_bb0065","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S1383-5742(03)00032-2","article-title":"Theoretical analysis of mutation hotspots and their DNA sequence context specificity","volume":"544","author":"Rogozin","year":"2003","journal-title":"Mutat Res"},{"key":"10.1016\/j.jns.2013.09.015_bb0070","doi-asserted-by":"crossref","first-page":"13938","DOI":"10.1523\/JNEUROSCI.4668-08.2008","article-title":"Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its C. elegans homolog trigger neural degeneration in vitro and in vivo through a gain of function mechanism","volume":"28","author":"Zhao","year":"2008","journal-title":"J Neurosci"},{"key":"10.1016\/j.jns.2013.09.015_bb0075","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1007\/s00234-005-1415-3","article-title":"Magnetic resonance imaging analysis of the spinal cord atrophy in autosomal dominant hereditary spastic paraplegia","volume":"47","author":"Hedera","year":"2005","journal-title":"Neuroradiology"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X13029225?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X13029225?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,13]],"date-time":"2018-10-13T01:53:19Z","timestamp":1539395599000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X13029225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":15,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S0022510X13029225"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2013.09.015","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recurrent de novo c.316G>A mutation in NIPA1 hotspot","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2013.09.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}