{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T06:57:29Z","timestamp":1772521049709,"version":"3.50.1"},"reference-count":4,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"published-print":{"date-parts":[[2014,5,1]]},"DOI":"10.1136\/jnnp-2013-306777","type":"journal-article","created":{"date-parts":[[2013,12,12]],"date-time":"2013-12-12T07:01:42Z","timestamp":1386831702000},"page":"590-592","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":43,"title":["Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype"],"prefix":"10.1136","volume":"85","author":[{"given":"M.","family":"Synofzik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. A.","family":"Martinez-Carrera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Lindig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Schols","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Wirth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,12,11]]},"reference":[{"key":"key-10.1136\/jnnp-2013-306777-1","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1016\/j.ajhg.2013.04.011","article-title":"Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy","volume":"92","author":"Neveling","year":"2013","journal-title":"Am J Hum Genet"},{"key":"key-10.1136\/jnnp-2013-306777-2","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/j.ajhg.2013.04.013","article-title":"Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance","volume":"92","author":"Peeters","year":"2013","journal-title":"Am J Hum Genet"},{"key":"key-10.1136\/jnnp-2013-306777-3","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1016\/j.ajhg.2013.04.018","article-title":"Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia","volume":"92","author":"Oates","year":"2013","journal-title":"Am J Hum Genet"},{"key":"key-10.1136\/jnnp-2013-306777-4","doi-asserted-by":"crossref","first-page":"1714","DOI":"10.1212\/WNL.0b013e3182556c05","article-title":"Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy","volume":"78","author":"Harms","year":"2012","journal-title":"Neurology"}],"container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp-2013-306777","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T17:55:10Z","timestamp":1601056510000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp-2013-306777"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,11]]},"references-count":4,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2014,4,10]]},"published-print":{"date-parts":[[2014,5,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp-2013-306777","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12,11]]}}}