{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T03:09:09Z","timestamp":1791342549155,"version":"4.3.1"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,5]]},"DOI":"10.1093\/brain\/awq082","type":"journal-article","created":{"date-parts":[[2010,4,24]],"date-time":"2010-04-24T00:49:20Z","timestamp":1272070160000},"page":"1460-1469","source":"Crossref","is-referenced-by-count":109,"title":["Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot\u2013Marie\u2013Tooth neuropathy type 2A"],"prefix":"10.1093","volume":"133","author":[{"given":"Romain","family":"Cartoni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Arnaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Jacques","family":"M\u00e9dard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Poirot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine S.","family":"Courvoisier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman","family":"Chrast","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Claude","family":"Martinou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2010,4,22]]},"reference":[{"key":"key\n\t\t\t\t20170508034918_B1","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/79944","article-title":"OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28","volume":"26","author":"Alexander","year":"2000","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170508034918_B2","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1016\/j.biocel.2009.04.012","article-title":"OPA1-associated disorders: phenotypes and pathophysiology","volume":"41","author":"Amati-Bonneau","year":"2009","journal-title":"Int J Biochem Cell Biol"},{"key":"key\n\t\t\t\t20170508034918_B3","doi-asserted-by":"crossref","first-page":"17528","DOI":"10.1073\/pnas.0905523106","article-title":"SH3TC2\/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system","volume":"106","author":"Arnaud","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20170508034918_B4","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1523\/JNEUROSCI.4798-06.2007","article-title":"Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations","volume":"27","author":"Baloh","year":"2007","journal-title":"J Neurosci"},{"key":"key\n\t\t\t\t20170508034918_B5","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.expneurol.2009.05.003","article-title":"Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A","volume":"218","author":"Cartoni","year":"2009","journal-title":"Exp Neurol"},{"key":"key\n\t\t\t\t20170508034918_B6","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1113\/jphysiol.2005.092031","article-title":"Mitofusins 1\/2 and ERRalpha expression are increased in human skeletal muscle after physical exercise","volume":"567","author":"Cartoni","year":"2005","journal-title":"J Physiol"},{"key":"key\n\t\t\t\t20170508034918_B7","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1146\/annurev.cellbio.22.010305.104638","article-title":"Mitochondrial fusion and fission in mammals","volume":"22","author":"Chan","year":"2006","journal-title":"Annu Rev Cell Dev Biol"},{"key":"key\n\t\t\t\t20170508034918_B8","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1083\/jcb.200211046","article-title":"Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development","volume":"160","author":"Chen","year":"2003","journal-title":"J Cell Biol"},{"key":"key\n\t\t\t\t20170508034918_B9","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.cell.2007.06.026","article-title":"Mitochondrial fusion protects against neurodegeneration in the cerebellum","volume":"130","author":"Chen","year":"2007","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170508034918_B10","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1093\/brain\/awl174","article-title":"Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations","volume":"129","author":"Chung","year":"2006","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170508034918_B11","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/79936","article-title":"Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy","volume":"26","author":"Delettre","year":"2000","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170508034918_B12","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1083\/jcb.200611080","article-title":"Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations","volume":"176","author":"Detmer","year":"2007","journal-title":"J Cell Biol"},{"key":"key\n\t\t\t\t20170508034918_B13","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1038\/nrm2275","article-title":"Functions and dysfunctions of mitochondrial dynamics","volume":"8","author":"Detmer","year":"2007","journal-title":"Nat Rev Mol Cell Biol"},{"key":"key\n\t\t\t\t20170508034918_B14","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/hmg\/ddm314","article-title":"Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A","volume":"17","author":"Detmer","year":"2008","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20170508034918_B15","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1093\/jb\/mvg150","article-title":"Two mitofusin proteins, mammalian homologues of FZO, with distinct functions are both required for mitochondrial fusion","volume":"134","author":"Eura","year":"2003","journal-title":"J Biochem (Tokyo)"},{"key":"key\n\t\t\t\t20170508034918_B16","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/0896-6273(90)90308-3","article-title":"Transgenic mice expressing beta-galactosidase in mature neurons under neuron-specific enolase promoter control","volume":"5","author":"Forss-Petter","year":"1990","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170508034918_B17","first-page":"151","article-title":"Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations","volume":"193","author":"Funalot","year":"2009","journal-title":"Bull Acad Natl Med"},{"key":"key\n\t\t\t\t20170508034918_B18","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9780511811876","volume-title":"Nerve and Muscle","author":"Keynes","year":"2001"},{"key":"key\n\t\t\t\t20170508034918_B19","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s00439-004-1199-2","article-title":"Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A","volume":"116","author":"Kijima","year":"2005","journal-title":"Hum Genet"},{"key":"key\n\t\t\t\t20170508034918_B20","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1016\/0896-6273(94)90266-6","article-title":"Overexpression of BCL-2 in transgenic mice protects neurons from naturally occurring cell death and experimental ischemia","volume":"13","author":"Martinou","year":"1994","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170508034918_B21","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1002\/glia.20751","article-title":"Molecular mechanisms of inherited demyelinating neuropathies","volume":"56","author":"Scherer","year":"2008","journal-title":"Glia"},{"key":"key\n\t\t\t\t20170508034918_B22","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-56808-4","volume-title":"Pathology of peripheral nerves: an atlas of structural and molecular pathological changes","author":"Schr\u00f6der","year":"2001"},{"key":"key\n\t\t\t\t20170508034918_B23","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/j.neuron.2006.08.027","article-title":"An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model","volume":"51","author":"Seburn","year":"2006","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170508034918_B24","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.1974.tb00638.x","article-title":"Genetic and clinical aspects of Charcot-Marie-Tooth's disease","volume":"6","author":"Skre","year":"1974","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t20170508034918_B25","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/0006-8993(91)91154-S","article-title":"Compound action potential of nerve recorded by suction electrode: a theoretical and experimental analysis","volume":"546","author":"Stys","year":"1991","journal-title":"Brain Res"},{"key":"key\n\t\t\t\t20170508034918_B26","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1097\/NEN.0b013e31818b6cbc","article-title":"Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations","volume":"67","author":"Vallat","year":"2008","journal-title":"J Neuropathol Exp Neurol"},{"key":"key\n\t\t\t\t20170508034918_B27","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1093\/brain\/awl126","article-title":"MFN2 mutation distribution and genotype\/phenotype correlation in Charcot-Marie-Tooth type 2","volume":"129","author":"Verhoeven","year":"2006","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170508034918_B28","doi-asserted-by":"publisher","DOI":"10.1093\/acprof:oso\/9780195082937.001.0001","volume-title":"The axon : structure, function and pathophysiology","author":"Waxman","year":"1995"},{"key":"key\n\t\t\t\t20170508034918_B29","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\/133\/5\/1460\/16697355\/awq082.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T04:30:21Z","timestamp":1503462621000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/awq082"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4,22]]},"references-count":29,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2010,4,22]]},"published-print":{"date-parts":[[2010,5]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awq082","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.3550956.3253055","asserted-by":"object"}]},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2010,4,22]]}}}