{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T08:55:03Z","timestamp":1791104103868,"version":"4.1.0"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,11]]},"DOI":"10.1093\/brain\/awu224","type":"journal-article","created":{"date-parts":[[2014,8,15]],"date-time":"2014-08-15T00:36:05Z","timestamp":1408062965000},"page":"2897-2902","source":"Crossref","is-referenced-by-count":140,"title":["A novel mutation in VCP causes Charcot\u2013Marie\u2013Tooth Type 2 disease"],"prefix":"10.1093","volume":"137","author":[{"given":"Michael A.","family":"Gonzalez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shawna M.","family":"Feely","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiorella","family":"Speziani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alleene V.","family":"Strickland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt","family":"Danzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chelsea","family":"Bacon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youjin","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsui-Fen","family":"Chou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan H.","family":"Blanton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conrad C.","family":"Weihl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Shy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,8,14]]},"reference":[{"key":"key\n\t\t\t\t20170425181609_awu224-B1","doi-asserted-by":"crossref","first-page":"2231.e1","DOI":"10.1016\/j.neurobiolaging.2012.04.005","article-title":"Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis","volume":"33","author":"Abramzon","year":"2012","journal-title":"Neurobiol Aging"},{"key":"key\n\t\t\t\t20170425181609_awu224-B2","doi-asserted-by":"crossref","first-page":"e223","DOI":"10.1093\/brain\/aws201","article-title":"Hereditary spastic paraplegia caused by a mutation in the VCP gene","volume":"135","author":"de Bot","year":"2012","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170425181609_awu224-B3","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS","volume":"72","author":"DeJesus-Hernandez","year":"2011","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170425181609_awu224-B4","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1002\/humu.22305","article-title":"GEnomes management application (GEM.app): a new software tool for large-scale collaborative genome analysis","volume":"34","author":"Gonzalez","year":"2013","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170425181609_awu224-B5","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.neuron.2010.11.036","article-title":"Exome sequencing reveals VCP mutations as a cause of familial ALS","volume":"68","author":"Johnson","year":"2010","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170425181609_awu224-B6","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1083\/jcb.200908115","article-title":"Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease","volume":"187","author":"Ju","year":"2009","journal-title":"J Cell Biol"},{"key":"key\n\t\t\t\t20170425181609_awu224-B7","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1097\/00125817-200007000-00006","article-title":"Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and paget disease of bone","volume":"2","author":"Kimonis","year":"2000","journal-title":"Genet Med"},{"key":"key\n\t\t\t\t20170425181609_awu224-B8","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1002\/ajmg.a.31862","article-title":"Clinical studies in familial VCP myopathy associated with paget disease of bone and frontotemporal dementia","volume":"146A","author":"Kimonis","year":"2008","journal-title":"Am J Med Genet A"},{"key":"key\n\t\t\t\t20170425181609_awu224-B9","doi-asserted-by":"crossref","first-page":"1518.e5","DOI":"10.1016\/j.neurobiolaging.2012.09.018","article-title":"Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3","volume":"34","author":"Koppers","year":"2013","journal-title":"Neurobiol Aging"},{"key":"key\n\t\t\t\t20170425181609_awu224-B10","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/ncb2407","article-title":"Emerging functions of the VCP\/p97 AAA-ATPase in the ubiquitin system","volume":"14","author":"Meyer","year":"2012","journal-title":"Nat Cell Biol"},{"key":"key\n\t\t\t\t20170425181609_awu224-B11","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/j.1529-8027.2011.00350.x","article-title":"Reliability of the CMT neuropathy score (second version) in charcot-marie-tooth disease","volume":"16","author":"Murphy","year":"2011","journal-title":"J Peripher Nerv Syst"},{"key":"key\n\t\t\t\t20170425181609_awu224-B12","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1136\/jnnp-2012-302451","article-title":"Charcot-marie-tooth disease: frequency of genetic subtypes and guidelines for genetic testing","volume":"83","author":"Murphy","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key\n\t\t\t\t20170425181609_awu224-B13","doi-asserted-by":"crossref","first-page":"8561","DOI":"10.1074\/jbc.M111.302778","article-title":"The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97\/VCP","volume":"287","author":"Niwa","year":"2012","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20170425181609_awu224-B14","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/ana.22166","article-title":"Charcot-marie-tooth disease subtypes and genetic testing strategies","volume":"69","author":"Saporta","year":"2011","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20170425181609_awu224-B15","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/ana.24012","article-title":"Amyotrophic lateral sclerosis: problems and prospects","volume":"74","author":"Sreedharan","year":"2013","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20170425181609_awu224-B16","doi-asserted-by":"crossref","first-page":"D535","DOI":"10.1093\/nar\/gkj109","article-title":"BioGRID: a general repository for interaction datasets","volume":"34","author":"Stark","year":"2006","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20170425181609_awu224-B17","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1083\/jcb.201007013","article-title":"Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by parkin","volume":"191","author":"Tanaka","year":"2010","journal-title":"J Cell Biol"},{"key":"key\n\t\t\t\t20170425181609_awu224-B19","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.expneurol.2012.01.010","article-title":"Overlapping molecular pathological themes link charcot-marie-tooth neuropathies and hereditary spastic paraplegias","volume":"246","author":"Timmerman","year":"2013","journal-title":"Exp Neurol"},{"key":"key\n\t\t\t\t20170425181609_awu224-B18","doi-asserted-by":"crossref","first-page":"13","DOI":"10.3390\/genes5010013","article-title":"Genetics of charcot-marie-tooth (CMT) disease within the frame of the human genome project success","volume":"5","author":"Timmerman","year":"2014","journal-title":"Genes (Basel)"},{"key":"key\n\t\t\t\t20170425181609_awu224-B20","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng1332","article-title":"Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein","volume":"36","author":"Watts","year":"2004","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170425181609_awu224-B21","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","article-title":"Mutations in the mitochondrial GTPase mitofusin 2 cause charcot-marie-tooth neuropathy type 2A","volume":"36","author":"Zuchner","year":"2004","journal-title":"Nat Genet"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/137\/11\/2897\/13796826\/awu224.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,13]],"date-time":"2019-08-13T19:49:20Z","timestamp":1565725760000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/awu224"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,14]]},"references-count":21,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2014,8,14]]},"published-print":{"date-parts":[[2014,11]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awu224","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2014,8,14]]}}}