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PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20482598&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1111\/j.1468-1331.2010.03037.x","DOI":"10.1111\/j.1468-1331.2010.03037.x"},{"key":"ref=8","doi-asserted-by":"crossref","unstructured":"Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth\u2019s disease. Clin Genet 1974; 6: 98\u2009\u2013\u2009118. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=4430158&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1111\/j.1399-0004.1974.tb00638.x","DOI":"10.1111\/j.1399-0004.1974.tb00638.x"},{"key":"ref=9","doi-asserted-by":"crossref","unstructured":"Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 2009; 8: 654\u2009\u2013\u200967. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19539237&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1016\/S1474-4422(09)70110-3","DOI":"10.1016\/S1474-4422(09)70110-3"},{"key":"ref=10","doi-asserted-by":"crossref","unstructured":"Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980; 103: 259\u2009\u2013\u200980. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7397478&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1093\/brain\/103.2.259","DOI":"10.1093\/brain\/103.2.259"},{"key":"ref=11","unstructured":"Davis CJ, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 1978; 26: 311\u2009\u2013\u200949. 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PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24705285&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.3390\/genes5010013","DOI":"10.3390\/genes5010013"},{"key":"ref=14","doi-asserted-by":"crossref","unstructured":"Kaplan JC, Hamroun D. The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscul Disord 2013; 23: 1081\u2009\u2013\u2009111. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24446552&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1016\/j.nmd.2013.10.006","DOI":"10.1016\/j.nmd.2013.10.006"},{"key":"ref=15","unstructured":"Senter for medisinsk genetikk og molekyl\u00e6rmedisin, Haukeland universitetssykehus. Norsk portal for medisinsk-genetiske analyser. www.genetikkportalen.no\/default.asp?act=tilst&TgID=1&katID=19&TilID=527 (1.9.2014)."},{"key":"ref=16","unstructured":"Norsk Elektronisk Legeh\u00e5ndbok. Norsk nevrologisk forening. 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PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24053775&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1186\/1471-2350-14-94","DOI":"10.1186\/1471-2350-14-94"},{"key":"ref=19","doi-asserted-by":"crossref","unstructured":"Saporta AS, Sottile SL, Miller LJ et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011; 69: 22\u2009\u2013\u200933. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21280073&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1002\/ana.22166","DOI":"10.1002\/ana.22166"},{"key":"ref=20","doi-asserted-by":"crossref","unstructured":"Murphy SM, Laura M, Fawcett K et al. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 2012; 83: 706\u2009\u2013\u200910. 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