{"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":1793065629090,"version":"4.5.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,11,10]],"date-time":"2012-11-10T00:00:00Z","timestamp":1352505600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2013,2]]},"DOI":"10.1007\/s10048-012-0346-5","type":"journal-article","created":{"date-parts":[[2012,11,9]],"date-time":"2012-11-09T01:59:31Z","timestamp":1352426371000},"page":"35-42","source":"Crossref","is-referenced-by-count":25,"title":["Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2"],"prefix":"10.1007","volume":"14","author":[{"given":"B.-O.","family":"Choi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.-H.","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. W.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.-M.","family":"Woo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Koo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.-K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.-G.","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. D.","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. J.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y. S.","family":"Hyun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. K.","family":"Koo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,11,10]]},"reference":[{"key":"346_CR1","doi-asserted-by":"crossref","first-page":"19096","DOI":"10.1073\/pnas.0910672106","volume":"106","author":"M Choi","year":"2009","unstructured":"Choi M, Scholl UI, Ji W et al (2009) Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 106:19096\u201319101","journal-title":"Proc Natl Acad Sci U S A"},{"key":"346_CR2","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng.499","volume":"42","author":"SB Ng","year":"2010","unstructured":"Ng SB, Buckingham KJ, Lee C et al (2010) Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42:30\u201335","journal-title":"Nat Genet"},{"key":"346_CR3","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nrg3031","volume":"12","author":"MJ Bamshad","year":"2011","unstructured":"Bamshad MJ, Ng SB, Bigham AW et al (2011) Exome sequencing as a tool for mendelian disease gene discovery. Nat Rev Genet 12:745\u2013755","journal-title":"Nat Rev Genet"},{"issue":"11","key":"346_CR4","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1002\/humu.22143","volume":"33","author":"BO Choi","year":"2012","unstructured":"Choi BO, Koo SK, Park MH et al (2012) Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. Hum Mutat 33(11):1610\u20131615","journal-title":"Hum Mutat"},{"key":"346_CR5","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1136\/jnnp.2008.158295","volume":"80","author":"MM Reilly","year":"2009","unstructured":"Reilly MM, Shy ME (2009) Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry 80:1304\u20131314","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"346_CR6","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/S1474-4422(09)70110-3","volume":"8","author":"D Pareyson","year":"2009","unstructured":"Pareyson D, Marchesi C (2009) Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 8:654\u2013667","journal-title":"Lancet Neurol"},{"key":"346_CR7","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/brain\/103.2.259","volume":"103","author":"AE Harding","year":"1980","unstructured":"Harding AE, Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259\u2013280","journal-title":"Brain"},{"key":"346_CR8","doi-asserted-by":"crossref","first-page":"1612","DOI":"10.1093\/brain\/123.8.1612","volume":"123","author":"M Auer-Grumbach","year":"2000","unstructured":"Auer-Grumbach M, Loscher WN, Wagner K et al (2000) Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study. Brain 123:1612\u20131623","journal-title":"Brain"},{"key":"346_CR9","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1385\/NMM:8:1-2:87","volume":"8","author":"R Bernard","year":"2006","unstructured":"Bernard R, De Sandre-Giovannoli A, Delague V et al (2006) Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. Neruomol Med 8:87\u2013106","journal-title":"Neruomol Med"},{"key":"346_CR10","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1385\/NMM:8:1-2:107","volume":"8","author":"KA Kleopa","year":"2006","unstructured":"Kleopa KA, Scherer SS (2006) Molecular genetics of X-linked Charcot-Marie-Tooth disease. Neruomol Med 8:107\u2013122","journal-title":"Neruomol Med"},{"key":"346_CR11","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1385\/NMM:8:1-2:63","volume":"8","author":"S Z\u00fcchner","year":"2006","unstructured":"Z\u00fcchner S, Vance JM (2006) Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease. Neruomol Med 8:63\u201374","journal-title":"Neruomol Med"},{"key":"346_CR12","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1093\/brain\/awn216","volume":"132","author":"D Ito","year":"2009","unstructured":"Ito D, Suzuki N (2009) Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain 132:8\u201315","journal-title":"Brain"},{"key":"346_CR13","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1093\/brain\/awh232","volume":"127","author":"J Irobi","year":"2004","unstructured":"Irobi J, Van den Bergh P, Merlini L et al (2004) The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain 127:2124\u20132130","journal-title":"Brain"},{"key":"346_CR14","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.jns.2007.06.047","volume":"263","author":"B Rohkamm","year":"2007","unstructured":"Rohkamm B, Reilly MM, Lochm\u00fcller H et al (2007) Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci 263:100\u2013106","journal-title":"J Neurol Sci"},{"key":"346_CR15","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1002\/mus.20792","volume":"36","author":"HJ Cho","year":"2007","unstructured":"Cho HJ, Sung DH, Ki CS (2007) Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with silver syndrome and distal hereditary motor neuropathy. Muscle Nerve 36:384\u2013386","journal-title":"Muscle Nerve"},{"key":"346_CR16","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1093\/brain\/awn029","volume":"131","author":"I Dierick","year":"2008","unstructured":"Dierick I, Baets J, Irobi J et al (2008) Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype phenotype correlation study. Brain 131:1217\u20131227","journal-title":"Brain"},{"key":"346_CR17","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1111\/j.1440-1789.2009.01011.x","volume":"29","author":"B Chen","year":"2009","unstructured":"Chen B, Zheng R, Luan X et al (2009) Clinical and pathological study of distal motor neuropathy with N88S mutation in BSCL2. Neuropathology 29:543\u2013547","journal-title":"Neuropathology"},{"key":"346_CR18","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1002\/mus.21734","volume":"42","author":"M Luigetti","year":"2010","unstructured":"Luigetti M, Fabrizi GM, Madia F et al (2010) Seipin S90L mutation in an Italian family with CMT2\/dHMN and pyramidal signs. Muscle Nerve 42:448\u2013451","journal-title":"Muscle Nerve"},{"key":"346_CR19","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1002\/humu.9261","volume":"24","author":"BO Choi","year":"2004","unstructured":"Choi BO, Lee MS, Shin SH et al (2004) Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum Mutat 24:185\u2013186","journal-title":"Hum Mutat"},{"key":"346_CR20","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1056\/NEJMoa0908094","volume":"362","author":"JR Lupski","year":"2010","unstructured":"Lupski JR, Reid JG, Gonzaga-Jauregui C et al (2010) Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362:1181\u20131191","journal-title":"N Engl J Med"},{"key":"346_CR21","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng786","volume":"30","author":"GR Abecasis","year":"2002","unstructured":"Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin\u2014rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97\u2013101","journal-title":"Nat Genet"},{"key":"346_CR22","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164","journal-title":"Nucleic Acids Res"},{"issue":"Database issue","key":"346_CR23","doi-asserted-by":"crossref","first-page":"D883","DOI":"10.1093\/nar\/gkq1101","volume":"39","author":"D Hong","year":"2011","unstructured":"Hong D, Park SS, Ju YS et al (2011) TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology. Nucleic Acids Res 39(Database issue):D883\u2013D888","journal-title":"Nucleic Acids Res"},{"key":"346_CR24","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/BF03344102","volume":"29","author":"S Lim","year":"2006","unstructured":"Lim S, Jang HC, Lee HK et al (2006) A rural\u2013urban comparison of the characteristics of the metabolic syndrome by gender in Korea: the Korean Health and Genome Study (KHGS). J Endocrinol Investig 29:313\u2013319","journal-title":"J Endocrinol Investig"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-012-0346-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-012-0346-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-012-0346-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T04:01:04Z","timestamp":1559102464000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-012-0346-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,10]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,2]]}},"alternative-id":["346"],"URL":"https:\/\/doi.org\/10.1007\/s10048-012-0346-5","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,10]]}}}