{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:12:21Z","timestamp":1761718341636},"reference-count":15,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T00:00:00Z","timestamp":1417392000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"BMBF","doi-asserted-by":"publisher","award":["01GM1103A"],"award-info":[{"award-number":["01GM1103A"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2014,12]]},"DOI":"10.1016\/j.jns.2014.09.046","type":"journal-article","created":{"date-parts":[[2014,10,4]],"date-time":"2014-10-04T01:34:46Z","timestamp":1412386486000},"page":"352-355","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother"],"prefix":"10.1016","volume":"347","author":[{"given":"Anna","family":"Aulitzky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"Friedrich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"Gl\u00e4ser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina","family":"Gastl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Kubisch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert C.","family":"Ludolph","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander E.","family":"Volk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"8334","key":"10.1016\/j.jns.2014.09.046_bb0005","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","article-title":"Classification of the hereditary ataxias and paraplegias","volume":"1","author":"Harding","year":"1983","journal-title":"Lancet"},{"key":"10.1016\/j.jns.2014.09.046_bb0010","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1146\/annurev-neuro-062111-150400","article-title":"Cellular pathways of hereditary spastic paraplegia","volume":"35","author":"Blackstone","year":"2012","journal-title":"Annu Rev Neurosci"},{"issue":"3","key":"10.1016\/j.jns.2014.09.046_bb0015","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1136\/jnnp.2009.180331","article-title":"Bladder dysfunction in hereditary spastic paraplegia: what to expect?","volume":"81","author":"Braschinsky","year":"2010","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"10.1016\/j.jns.2014.09.046_bb0020","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1136\/jnnp.71.4.561","article-title":"Motor evoked potentials from the external anal sphincter in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p","volume":"71","author":"Jennum","year":"2001","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1","key":"10.1016\/j.jns.2014.09.046_bb0025","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.yexcr.2014.02.021","article-title":"Molecular aspects of hereditary spastic paraplegia","volume":"325","author":"Noreau","year":"2014","journal-title":"Exp Cell Res"},{"issue":"6170","key":"10.1016\/j.jns.2014.09.046_bb0030","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1126\/science.1247363","article-title":"Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders","volume":"343","author":"Novarino","year":"2014","journal-title":"Science"},{"issue":"3","key":"10.1016\/j.jns.2014.09.046_bb0035","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s00401-013-1115-8","article-title":"Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms","volume":"126","author":"Fink","year":"2013","journal-title":"Acta Neuropathol"},{"issue":"1\u20132","key":"10.1016\/j.jns.2014.09.046_bb0040","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"},{"issue":"3","key":"10.1016\/j.jns.2014.09.046_bb0045","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1136\/jmg.2005.035311","article-title":"Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases","volume":"43","author":"Depienne","year":"2006","journal-title":"J Med Genet"},{"issue":"3","key":"10.1016\/j.jns.2014.09.046_bb0050","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/s10048-007-0090-4","article-title":"A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP","volume":"8","author":"Depienne","year":"2007","journal-title":"Neurogenetics"},{"issue":"4","key":"10.1016\/j.jns.2014.09.046_bb0055","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"8","key":"10.1016\/j.jns.2014.09.046_bb0060","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"},{"issue":"5","key":"10.1016\/j.jns.2014.09.046_bb0065","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res"},{"issue":"1","key":"10.1016\/j.jns.2014.09.046_bb0070","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.mito.2010.07.006","article-title":"Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation","volume":"11","author":"Verny","year":"2011","journal-title":"Mitochondrion"},{"key":"10.1016\/j.jns.2014.09.046_bb0075","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2377-10-89","article-title":"Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia","volume":"10","author":"Alvarez","year":"2010","journal-title":"BMC Neurol"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X14006467?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X14006467?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,28]],"date-time":"2018-09-28T20:53:17Z","timestamp":1538167997000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X14006467"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12]]},"references-count":15,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["S0022510X14006467"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2014.09.046","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2014,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2014.09.046","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}