{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T01:47:09Z","timestamp":1793065629100,"version":"4.5.0"},"reference-count":18,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2007,12,1]],"date-time":"2007-12-01T00:00:00Z","timestamp":1196467200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,12,1]],"date-time":"2007-12-01T00:00:00Z","timestamp":1196467200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2007,12,1]],"date-time":"2007-12-01T00:00:00Z","timestamp":1196467200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2007,12,1]],"date-time":"2007-12-01T00:00:00Z","timestamp":1196467200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2007,12,1]],"date-time":"2007-12-01T00:00:00Z","timestamp":1196467200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2007,12,1]],"date-time":"2007-12-01T00:00:00Z","timestamp":1196467200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2007,12,1]],"date-time":"2007-12-01T00:00:00Z","timestamp":1196467200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100010571","name":"Bundesministerium f\u00fcr Bildung, Wissenschaft, Forschung und Technologie","doi-asserted-by":"publisher","award":["01GM0304-GeNeMove"],"award-info":[{"award-number":["01GM0304-GeNeMove"]}],"id":[{"id":"10.13039\/501100010571","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["GUP02169"],"award-info":[{"award-number":["GUP02169"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["P17494-B14"],"award-info":[{"award-number":["P17494-B14"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["P19455-B05"],"award-info":[{"award-number":["P19455-B05"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2007,12]]},"DOI":"10.1016\/j.jns.2007.06.047","type":"journal-article","created":{"date-parts":[[2007,8,1]],"date-time":"2007-08-01T08:55:29Z","timestamp":1185958529000},"page":"100-106","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":52,"title":["Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome"],"prefix":"10.1016","volume":"263","author":[{"given":"Barbara","family":"Rohkamm","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary M.","family":"Reilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Schlotter-Weigel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Barisic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garth","family":"Nicholson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Pareyson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Laur\u00e0","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas R.","family":"Janecke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel","family":"Miltenberger-Miltenyi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"John","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carina","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz","family":"Grill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Wakeling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas R.","family":"Pieber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Auer-Grumbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"Pt8","key":"10.1016\/j.jns.2007.06.047_bib1","doi-asserted-by":"crossref","first-page":"1612","DOI":"10.1093\/brain\/123.8.1612","article-title":"Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study","volume":"123","author":"Auer-Grumbach","year":"2000","journal-title":"Brain"},{"key":"10.1016\/j.jns.2007.06.047_bib2","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/ana.20410","article-title":"Phenotypes of the N88S Berardinelli\u2013Seip congenital lipodystrophy 2 mutation","volume":"57","author":"Auer-Grumbach","year":"2005","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jns.2007.06.047_bib3","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1093\/hmg\/5.9.1373","article-title":"Autosomal dominant Charcot\u2013Marie\u2013Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)","volume":"5","author":"Ionasescu","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jns.2007.06.047_bib4","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/S0022-510X(98)00264-0","article-title":"Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot\u2013Marie\u2013Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15","volume":"161","author":"Sambuughin","year":"1998","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jns.2007.06.047_bib5","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.1469-1809.1966.tb00007.x","article-title":"Familial spastic paraplegia with amyotrophy of the hands","volume":"30","author":"Silver","year":"1966","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.jns.2007.06.047_bib6","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1093\/brain\/awh590","article-title":"Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations","volume":"128","author":"Sivakumar","year":"2005","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.jns.2007.06.047_bib7","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1086\/321267","article-title":"The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12\u2013q14, with evidence for genetic heterogeneity within this subtype","volume":"69","author":"Patel","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jns.2007.06.047_bib8","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1086\/375039","article-title":"Glycyl tRNA synthetase mutations in Charcot\u2013Marie\u2013Tooth disease type 2D and distal spinal muscular atrophy type V","volume":"72","author":"Antonellis","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"9","key":"10.1016\/j.jns.2007.06.047_bib9","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1212\/01.wnl.0000242619.52335.bc","article-title":"Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene","volume":"67","author":"James","year":"2006","journal-title":"Neurology"},{"issue":"41","key":"10.1016\/j.jns.2007.06.047_bib10","doi-asserted-by":"crossref","first-page":"10397","DOI":"10.1523\/JNEUROSCI.1671-06.2006","article-title":"Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons","volume":"26","author":"Antonellis","year":"2006","journal-title":"J Neurosci"},{"key":"10.1016\/j.jns.2007.06.047_bib11","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ng1313","article-title":"Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome","volume":"36","author":"Windpassinger","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.jns.2007.06.047_bib12","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.nmd.2005.11.003","article-title":"BSCL2 mutations in two Dutch families with overlapping Silver syndrome\u2013distal hereditary motor neuropathy","volume":"16","author":"Van de Warrenburg","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jns.2007.06.047_bib13","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1212\/01.wnl.0000263479.97552.94","article-title":"Phenotype of Charcot\u2013Marie\u2013Tooth disease Type 2","volume":"68","author":"Bienfait","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2007.06.047_bib14","doi-asserted-by":"crossref","first-page":"R195","DOI":"10.1093\/hmg\/ddh226","article-title":"Molecular genetics of distal hereditary motor neuropathies","volume":"13","author":"Irobi","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jns.2007.06.047_bib15","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1093\/brain\/awh232","article-title":"The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V","volume":"127","author":"Irobi","year":"2004","journal-title":"Brain"},{"key":"10.1016\/j.jns.2007.06.047_bib16","doi-asserted-by":"crossref","DOI":"10.1002\/mus.20792","article-title":"Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy","author":"Cho","year":"2007","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jns.2007.06.047_bib17","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/ng1328","article-title":"Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy","volume":"36","author":"Irobi","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.jns.2007.06.047_bib18","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ng1354","article-title":"Mutant small heat-shock protein 27 causes axonal Charcot\u2013Marie\u2013Tooth disease and distal hereditary motor neuropathy","volume":"36","author":"Evgrafov","year":"2004","journal-title":"Nat Genet"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X07004479?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X07004479?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T15:38:40Z","timestamp":1758382720000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X07004479"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12]]},"references-count":18,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["S0022510X07004479"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2007.06.047","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2007,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2007.06.047","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}