{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T12:40:11Z","timestamp":1710160811319},"reference-count":73,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2009,2,1]],"date-time":"2009-02-01T00:00:00Z","timestamp":1233446400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["La Presse M\u00e9dicale"],"published-print":{"date-parts":[[2009,2]]},"DOI":"10.1016\/j.lpm.2008.07.013","type":"journal-article","created":{"date-parts":[[2009,3,11]],"date-time":"2009-03-11T20:08:12Z","timestamp":1236802092000},"page":"200-209","source":"Crossref","is-referenced-by-count":3,"title":["La maladie de Charcot-Marie-Tooth"],"prefix":"10.1016","volume":"38","author":[{"given":"Nazha","family":"Birouk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.lpm.2008.07.013_bib1","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":"10.1016\/j.lpm.2008.07.013_bib2","first-page":"273","article-title":"Polyneuropathies sensitivomotrices h\u00e9r\u00e9ditaires\u00a0: maladie de Charcot-Marie-Tooth","volume":"2","author":"Birouk","year":"2004"},{"key":"10.1016\/j.lpm.2008.07.013_bib3","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/0022-510X(83)90172-7","article-title":"Peroneal muscular atrophy. Part I Clinical and electrophysiological study","volume":"61","author":"Bouche","year":"1983","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.lpm.2008.07.013_bib4","first-page":"727","article-title":"Maladie de Charcot-Marie-Tooth\u00a0: l\u2019\u00e9lectromyogramme reste utile au diagnostic et \u00e0 la classification","volume":"153","author":"Birouk","year":"1997","journal-title":"Rev Neurol"},{"key":"10.1016\/j.lpm.2008.07.013_bib5","first-page":"825","article-title":"Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons","volume":"II","author":"Dyck","year":"1975"},{"key":"10.1016\/j.lpm.2008.07.013_bib6","first-page":"1600","article-title":"Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons","volume":"II","author":"Dyck","year":"1984"},{"key":"10.1016\/j.lpm.2008.07.013_bib7","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1097\/00019052-200010000-00009","article-title":"Classification of the hereditary motor and sensory neuropathies","volume":"13","author":"Reilly","year":"2000","journal-title":"Current Opinion in Neurology"},{"key":"10.1016\/j.lpm.2008.07.013_bib8","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/S0960-8966(00)00222-4","article-title":"The frequency of 17p11.2 duplication and connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity","volume":"11","author":"Dubourg","year":"2001","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.lpm.2008.07.013_bib9","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1093\/brain\/120.5.813","article-title":"Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication: clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases","volume":"120","author":"Birouk","year":"1997","journal-title":"Brain"},{"key":"10.1016\/j.lpm.2008.07.013_bib10","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1093\/brain\/120.3.465","article-title":"The phenotypic manifestations of chromosome 17p11.2 duplication","volume":"120","author":"Thomas","year":"1997","journal-title":"Brain"},{"key":"10.1016\/j.lpm.2008.07.013_bib11","first-page":"1223","article-title":"Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A","volume":"58","author":"Lopes","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib12","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1002\/ana.410390621","article-title":"Ultrastructural PMP22 expression in inherited demyelinating neuropathies","volume":"39","author":"Vallat","year":"1996","journal-title":"Ann Neurol"},{"key":"10.1016\/j.lpm.2008.07.013_bib13","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/S0165-0173(01)00097-2","article-title":"Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease","volume":"36","author":"Young","year":"2001","journal-title":"Brain Research Reviews"},{"key":"10.1016\/j.lpm.2008.07.013_bib14","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/ng1193-269","article-title":"Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene","volume":"5","author":"Roa","year":"1993","journal-title":"Nat Genet"},{"issue":"3","key":"10.1016\/j.lpm.2008.07.013_bib15","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S0924-4204(97)83522-6","article-title":"La maladie de Charcot-Marie-Tooth","volume":"7","author":"Le Guern","year":"1996","journal-title":"Annales de l\u2019Institut Pasteur"},{"key":"10.1016\/j.lpm.2008.07.013_bib16","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S0896-6273(00)80176-2","article-title":"Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin","volume":"17","author":"Shapiro","year":"1996","journal-title":"Neuron"},{"key":"10.1016\/j.lpm.2008.07.013_bib17","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1212\/WNL.47.3.761","article-title":"Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease","volume":"47","author":"Gabre\u00ebls-Festen","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.lpm.2008.07.013_bib18","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1212\/WNL.50.5.1397","article-title":"Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene","volume":"50","author":"Marrosu","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.lpm.2008.07.013_bib19","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1136\/jnnp.66.6.779","article-title":"Axonal phenotype of Charcot-Marie-Tooth disease associated witn a mutation in the myelin protein zero gene","volume":"66","author":"Chapon","year":"1999","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.lpm.2008.07.013_bib20","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1093\/brain\/124.10.1958","article-title":"Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease","volume":"124","author":"Dubourg","year":"2001","journal-title":"Brain"},{"key":"10.1016\/j.lpm.2008.07.013_bib21","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1126\/science.8266101","article-title":"Connexin mutations in X-linked Charcot-Marie-Tooth disease","volume":"262","author":"Bergoffen","year":"1993","journal-title":"Science"},{"key":"10.1016\/j.lpm.2008.07.013_bib22","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/S1474-4422(02)00042-X","article-title":"Hereditary motor and sensory neuropathies: a biological perspective","volume":"1","author":"Shy","year":"2002","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.lpm.2008.07.013_bib23","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1212\/WNL.50.4.1074","article-title":"X-linked Charcot-Marie-Tooth disease with connexin 32 mutations, clinical and electrophysiologic study","volume":"50","author":"Birouk","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.lpm.2008.07.013_bib24","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1093\/brain\/awg012","article-title":"Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin related proteins (PMP22,MPZ and C\u00d732): a clinicopathological study of 205 Japanese patients","volume":"126","author":"Hattori","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.lpm.2008.07.013_bib25","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1212\/WNL.52.2.432-a","article-title":"Is CMTX an axonopathy?","volume":"52","author":"Scherer","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.lpm.2008.07.013_bib26","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s004010000275","article-title":"Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis","volume":"101","author":"Hahn","year":"2001","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.lpm.2008.07.013_bib27","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1046\/j.1529-8027.2001.01011.x","article-title":"Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations","volume":"6","author":"Vital","year":"2001","journal-title":"J Peripher Nerv Syst"},{"key":"10.1016\/j.lpm.2008.07.013_bib28","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1006\/geno.1993.1334","article-title":"Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity","volume":"17","author":"Ben Othmane","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/j.lpm.2008.07.013_bib29","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1212\/WNL.46.5.1311","article-title":"Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosome 1p35-p36 and Xq13","volume":"46","author":"Timmerman","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.lpm.2008.07.013_bib30","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/S0092-8674(01)00363-4","article-title":"Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta","volume":"105","author":"Zhao","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.lpm.2008.07.013_bib31","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 2","volume":"36","author":"Zuchner","year":"2004","journal-title":"Nature Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib32","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1212\/WNL.48.1.23","article-title":"Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics","volume":"48","author":"Elliott","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.lpm.2008.07.013_bib33","doi-asserted-by":"crossref","first-page":"1552","DOI":"10.1212\/WNL.55.10.1552","article-title":"Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus","volume":"55","author":"Auer-Grumbach","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.lpm.2008.07.013_bib34","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1086\/367847","article-title":"Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy","volume":"72","author":"Verhoeven","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib35","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1093\/hmg\/2.10.1625","article-title":"Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q","volume":"2","author":"Ben Othmane","year":"1993","journal-title":"Hum Molecul Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib36","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1038\/ng798","article-title":"The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease","volume":"30","author":"Cuesta","year":"2002","journal-title":"Nat Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib37","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1093\/hmg\/ddi121","article-title":"GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria","volume":"14","author":"Pedrola","year":"2005","journal-title":"Hum Mol Genet"},{"issue":"7","key":"10.1016\/j.lpm.2008.07.013_bib38","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1083\/jcb.200507087","article-title":"Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. 1","volume":"170","author":"Niemann","year":"2005","journal-title":"J Cell Biol"},{"key":"10.1016\/j.lpm.2008.07.013_bib39","doi-asserted-by":"crossref","first-page":"e87","DOI":"10.1136\/jmg.40.7.e87","article-title":"Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations","volume":"4","author":"De Sandre-Giovannoli","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib40","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1001\/archneur.60.4.598","article-title":"Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene","volume":"60","author":"Birouk","year":"2003","journal-title":"Arch Neurol"},{"key":"10.1016\/j.lpm.2008.07.013_bib41","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1212\/01.WNL.0000036272.36047.54","article-title":"Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy","volume":"59","author":"Nelis","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.lpm.2008.07.013_bib42","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1093\/brain\/awg068","article-title":"Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy","volume":"126","author":"Senderek","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.lpm.2008.07.013_bib43","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/75542","article-title":"Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2","volume":"25","author":"Bolino","year":"2000","journal-title":"Nature Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib44","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1006\/geno.1999.6028","article-title":"Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15","volume":"62","author":"Othmane","year":"1999","journal-title":"Genomics"},{"key":"10.1016\/j.lpm.2008.07.013_bib45","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1086\/375034","article-title":"Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma","volume":"72","author":"Azzedine","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib46","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1093\/hmg\/ddg030","article-title":"Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2\/11p15","volume":"12","author":"Senderek","year":"2003","journal-title":"Hum Molec Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib47","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1212\/WNL.46.5.1318","article-title":"Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family","volume":"46","author":"Quattrone","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.lpm.2008.07.013_bib48","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1093\/hmg\/5.10.1685","article-title":"Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33","volume":"5","author":"Le Guern","year":"1996","journal-title":"Hum Molec Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib49","first-page":"1106","article-title":"Mutations in a gene encoding a novel SH3\/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy","volume":"73","author":"Senderek","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib50","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1212\/WNL.48.4.867","article-title":"A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease","volume":"48","author":"Kessali","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.lpm.2008.07.013_bib51","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/ng1096-214","article-title":"Gene mapping in gypsies identifies a novel demyelinating neuropathy on chromosome 8q24","volume":"14","author":"Kalaydjieva","year":"1996","journal-title":"Nature Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib52","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1093\/brain\/121.3.399","article-title":"Hereditary motor and sensory neuropathy-Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings","volume":"121","author":"Kalaydjieva","year":"1998","journal-title":"Brain"},{"key":"10.1016\/j.lpm.2008.07.013_bib53","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/1531-8249(199907)46:1<36::AID-ANA7>3.0.CO;2-J","article-title":"Hereditary Auditory, vestibular, motor and sensory neuropathy in Slovenian Roma (Gypsy) kindred","volume":"46","author":"Butinar","year":"1999","journal-title":"Ann Neurol"},{"key":"10.1016\/j.lpm.2008.07.013_bib54","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1086\/302978","article-title":"N-myc downstraem-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom","volume":"67","author":"Kalaydjieva","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib55","doi-asserted-by":"crossref","unstructured":"Guilbot A, Williams A, Ravis\u00e9 N, Verny C, Brice A, Sherman DL et al. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Molec Genet 200;10:415-21.","DOI":"10.1093\/hmg\/10.4.415"},{"key":"10.1016\/j.lpm.2008.07.013_bib56","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1086\/302980","article-title":"Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13. 3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene","volume":"67","author":"Delague","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib57","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1086\/318208","article-title":"Periaxin mutations cause recessive Dejerine-Sottas neuropathy","volume":"68","author":"Boerkoel","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib58","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1086\/302542","article-title":"A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21. 3","volume":"65","author":"Bouhouche","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib59","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1086\/339274","article-title":"Homozygous defects in LMNA, encoding lamin A\/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse","volume":"70","author":"De Sandre-Giovannoli","year":"2002","journal-title":"Am J Hu. Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib60","first-page":"165","article-title":"Identification of mutations in the gene encoding lamin A\/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)","volume":"2","author":"Muchir","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib61","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/6799","article-title":"Mutations in the gene encoding lamin A\/C cause autosomal dominant Emery-Dreifuss muscular dystrophy","volume":"21","author":"Bonne","year":"1999","journal-title":"Nature Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib62","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1056\/NEJM199912023412302","article-title":"Missense mutations in the rod domain of the lamin A\/C gene as causes of dilated cardiomyopathy and conduction-system disease","volume":"341","author":"Fatkin","year":"1999","journal-title":"New Eng J Med"},{"key":"10.1016\/j.lpm.2008.07.013_bib63","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1093\/hmg\/9.1.109","article-title":"Nuclear lamin A\/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy","volume":"9","author":"Cao","year":"2000","journal-title":"Hum Molec Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib64","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1086\/341908","article-title":"Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A\/C","volume":"71","author":"Novelli","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib65","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1093\/brain\/awh021","article-title":"Phenotypic variability in autosomal recessive Charcot-Marie-Tooth disease due to the R298C mutation in lamin A\/C","volume":"127","author":"Tazir","year":"2004","journal-title":"Brain"},{"key":"10.1016\/j.lpm.2008.07.013_bib66","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/S0960-8966(02)00196-7","article-title":"The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A\/C gene","volume":"13","author":"Chaouch","year":"2003","journal-title":"Neuromuscul Disord"},{"issue":"Pt 4","key":"10.1016\/j.lpm.2008.07.013_bib67","first-page":"1062","article-title":"Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families","volume":"130","author":"Bouhouche","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.lpm.2008.07.013_bib68","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1086\/316934","article-title":"A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3","volume":"68","author":"Leal","year":"2001","journal-title":"Am Hum Genet"},{"key":"10.1016\/j.lpm.2008.07.013_bib69","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/S0960-8966(00)00162-0","article-title":"Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3","volume":"11","author":"Barhoumi","year":"2001","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.lpm.2008.07.013_bib70","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/S1083-7515(24)00139-6","article-title":"The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease","volume":"5","author":"Guyton","year":"2000","journal-title":"Foot Ankle Clin"},{"key":"10.1016\/j.lpm.2008.07.013_bib71","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s11940-005-0003-5","article-title":"Current Therapy for Charcot-Marie-Tooth Disease","volume":"7","author":"Grandis","year":"2005","journal-title":"Curr Treat Options Neurol"},{"key":"10.1016\/j.lpm.2008.07.013_bib72","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1038\/nm957","article-title":"Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)","volume":"9","author":"Sereda","year":"2003","journal-title":"Nat Med"},{"key":"10.1016\/j.lpm.2008.07.013_bib73","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1038\/nm1023","article-title":"Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease","volume":"10","author":"Passage","year":"2004","journal-title":"Nat Med"}],"container-title":["La Presse M\u00e9dicale"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0755498208005046?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0755498208005046?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T12:27:53Z","timestamp":1710160073000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0755498208005046"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2]]},"references-count":73,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["S0755498208005046"],"URL":"https:\/\/doi.org\/10.1016\/j.lpm.2008.07.013","relation":{},"ISSN":["0755-4982"],"issn-type":[{"value":"0755-4982","type":"print"}],"subject":[],"published":{"date-parts":[[2009,2]]}}}