{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T12:28:46Z","timestamp":1771504126675,"version":"3.50.1"},"reference-count":67,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2012,4,1]],"date-time":"2012-04-01T00:00:00Z","timestamp":1333238400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,12,31]],"date-time":"2016-12-31T00:00:00Z","timestamp":1483142400000},"content-version":"vor","delay-in-days":1735,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurolog\u00eda"],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.1016\/j.nrl.2011.04.015","type":"journal-article","created":{"date-parts":[[2011,6,27]],"date-time":"2011-06-27T09:53:46Z","timestamp":1309168426000},"page":"169-178","source":"Crossref","is-referenced-by-count":13,"title":["Gu\u00eda diagn\u00f3stica en el paciente con enfermedad de Charcot-Marie-Tooth"],"prefix":"10.1016","volume":"27","author":[{"given":"J.","family":"Berciano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Sevilla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Casasnovas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Sivera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.J.","family":"V\u00edlchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Infante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Ram\u00f3n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.L.","family":"Pelayo-Negro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Illa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nrl.2011.04.015_bib0005","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1111\/j.1600-0404.1987.tb07882.x","article-title":"Prevalence of hereditary motor and sensory neuropathy in Cantabria","volume":"75","author":"Combarros","year":"1987","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.nrl.2011.04.015_bib0010","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/brain\/103.2.259","article-title":"The clinical features of hereditary motor and sensory neuropathy types I and II","volume":"103","author":"Harding","year":"1980","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2011.04.015_bib0015","series-title":"Peripheral neuropathy","first-page":"1623","article-title":"Hereditary motor and sensory neuropathies","author":"Shy","year":"2005"},{"key":"10.1016\/j.nrl.2011.04.015_bib0020","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/S1474-4422(09)70110-3","article-title":"Diagnosis, natural history, and management of Charcot-Marie-Tooth disease","volume":"8","author":"Pareyson","year":"2009","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.nrl.2011.04.015_bib0025","series-title":"Peripheral neuropathy","first-page":"825","article-title":"Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory, and autonomic neurons","author":"Dyck","year":"1975"},{"key":"10.1016\/j.nrl.2011.04.015_bib0030","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1385\/NMM:8:1-2:217","article-title":"Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease","volume":"8","author":"Niemann","year":"2006","journal-title":"Neuromolecular Med"},{"key":"10.1016\/j.nrl.2011.04.015_bib0035","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1038\/ejhg.2009.31","article-title":"Charcot-Marie-Tooth disease","volume":"17","author":"Szigeti","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0040","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1136\/jnnp.2008.158295","article-title":"Diagnosis and new treatments in genetic neuropathies","volume":"80","author":"Reilly","year":"2009","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nrl.2011.04.015_bib0045","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":"10.1016\/j.nrl.2011.04.015_bib0050","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1056\/NEJMoa0908094","article-title":"Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy","volume":"362","author":"Lupski","year":"2010","journal-title":"N Engl J Med"},{"key":"10.1016\/j.nrl.2011.04.015_bib0055","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1038\/nrneurol.2010.108","article-title":"Peripheral neuropathies: whole genome sequencing identifies causal variants in CMT","volume":"6","author":"Z\u00fcchner","year":"2010","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.nrl.2011.04.015_bib0060","first-page":"63","volume":"45","author":"Dejerine","year":"1893","journal-title":"C R Soc Biol (Paris)"},{"key":"10.1016\/j.nrl.2011.04.015_bib0065","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ng796","article-title":"Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A\/8q21","volume":"30","author":"Baxter","year":"2002","journal-title":"Nat Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0070","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.nrl.2011.04.015_bib0075","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1093\/brain\/awn216","article-title":"Seipinopathy: a novel endoplasmic reticulum stress-associated disease","volume":"132","author":"Ito","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2011.04.015_bib0080","doi-asserted-by":"crossref","first-page":"1798","DOI":"10.1093\/brain\/awq109","article-title":"Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies","volume":"133","author":"Zimo\u0144","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2011.04.015_bib0085","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/mus.880120408","article-title":"The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I","volume":"12","author":"Berciano","year":"1989","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nrl.2011.04.015_bib0090","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1212\/WNL.50.4.1061","article-title":"Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study","volume":"50","author":"Garc\u00eda","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.nrl.2011.04.015_bib0095","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/S0960-8966(99)00114-5","article-title":"Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with Charcot-Marie-Tooth disease 1A duplication","volume":"10","author":"Berciano","year":"2000","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nrl.2011.04.015_bib0100","doi-asserted-by":"crossref","first-page":"1516","DOI":"10.1093\/brain\/123.7.1516","article-title":"Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A","volume":"123","author":"Krajewski","year":"2000","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2011.04.015_bib0105","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0092-8674(91)90613-4","article-title":"DNA duplication associated with Charcot-Marie-Tooth disease type 1A","volume":"66","author":"Lupski","year":"1991","journal-title":"Cell"},{"key":"10.1016\/j.nrl.2011.04.015_bib0110","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/0960-8966(91)90055-W","article-title":"Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type Ia (CMT Ia)","volume":"1","author":"Raeymaekers","year":"1991","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nrl.2011.04.015_bib0115","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1093\/brain\/awq374","article-title":"Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene","volume":"134","author":"Taioli","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2011.04.015_bib0120","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1093\/brain\/awh048","article-title":"Phenotypic clustering in MPZ mutations","volume":"127","author":"Shy","year":"2004","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2011.04.015_bib0125","doi-asserted-by":"crossref","first-page":"2061","DOI":"10.1007\/s00415-009-5251-y","article-title":"Charcot-Marie-Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family","volume":"256","author":"Gallardo","year":"2009","journal-title":"J Neurol"},{"key":"10.1016\/j.nrl.2011.04.015_bib0130","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1136\/jmg.33.5.413","article-title":"Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease","volume":"33","author":"Oterino","year":"1996","journal-title":"J Med Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0135","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1111\/j.1399-0004.2006.00724.x","article-title":"Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population","volume":"70","author":"Casasnovas","year":"2006","journal-title":"Clin Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0140","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1093\/brain\/awp115","article-title":"Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy","volume":"132","author":"Claeys","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2011.04.015_bib0145","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1007\/s00415-008-0808-8","article-title":"Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation","volume":"255","author":"Gallardo","year":"2008","journal-title":"J Neurol"},{"key":"10.1016\/j.nrl.2011.04.015_bib0150","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/ncpneuro0071","article-title":"Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies","volume":"2","author":"Z\u00fcchner","year":"2006","journal-title":"Nat Clin Pract Neurol"},{"key":"10.1016\/j.nrl.2011.04.015_bib0155","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1136\/jnnp.2009.181636","article-title":"Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy","volume":"81","author":"Solla","year":"2010","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nrl.2011.04.015_bib0160","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"},{"key":"10.1016\/j.nrl.2011.04.015_bib0165","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/ana.20797","article-title":"Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2","volume":"59","author":"Z\u00fcchner","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nrl.2011.04.015_bib0170","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1016\/j.nmd.2008.09.006","article-title":"Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings","volume":"18","author":"Banchs","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nrl.2011.04.015_bib0175","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1136\/jmg.2009.072488","article-title":"Phenotypic spectrum of MFN2 mutations in the Spanish population","volume":"47","author":"Casasnovas","year":"2010","journal-title":"J Med Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0180","doi-asserted-by":"crossref","first-page":"2023","DOI":"10.1093\/brain\/awg202","article-title":"Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene","volume":"126","author":"Sevilla","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2011.04.015_bib0185","doi-asserted-by":"crossref","first-page":"3051","DOI":"10.1093\/brain\/awn228","article-title":"Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy","volume":"131","author":"Sevilla","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2011.04.015_bib0190","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1136\/jmg.2004.022178","article-title":"Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect","volume":"42","author":"Claramunt","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0195","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1111\/j.1529-8027.2010.00286.x","article-title":"Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease","volume":"15","author":"Sivera","year":"2010","journal-title":"J Peripher Nerv Syst"},{"key":"10.1016\/j.nrl.2011.04.015_bib0200","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/ana.20410","article-title":"Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation","volume":"57","author":"Auer-Grumbach","year":"2005","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nrl.2011.04.015_bib0205","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1038\/ng0210-98","article-title":"Channelopathies converge on TRPV4","volume":"42","author":"Nilius","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0210","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng.508","article-title":"Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C","volume":"42","author":"Auer-Grumbach","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0215","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/ng.509","article-title":"Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4","volume":"42","author":"Deng","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0220","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/ng.512","article-title":"Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C","volume":"42","author":"Landour\u00e9","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0225","doi-asserted-by":"crossref","DOI":"10.1007\/s00415-011-5947-7","article-title":"Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation","author":"Berciano","year":"2011","journal-title":"J Neurol"},{"key":"10.1016\/j.nrl.2011.04.015_bib0230","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1002\/mus.10299","article-title":"Initial semeiology in children with Charcot-Marie-Tooth disease","volume":"27","author":"Berciano","year":"2003","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nrl.2011.04.015_bib0235","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1111\/j.1529-8027.2008.00199.x","article-title":"CMT1A duplication: refining the minimal adult phenotype","volume":"13","author":"Berciano","year":"2008","journal-title":"Peripher Nerv Syst"},{"key":"10.1016\/j.nrl.2011.04.015_bib0240","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1093\/brain\/awh693","article-title":"Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles","volume":"129","author":"Gallardo","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.nrl.2011.04.015_bib0245","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1212\/01.WNL.0000156517.00615.A3","article-title":"Reliability and validity of the CMT neuropathy score as a measure of disability","volume":"64","author":"Shy","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.nrl.2011.04.015_bib0250","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/0022-510X(83)90004-7","article-title":"Dominantly inherited motor and sensory neuropathy type I. Genetic, clinical, electrophysiological and pathological features in four families","volume":"61","author":"Combarros","year":"1983","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nrl.2011.04.015_bib0255","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1002\/mus.20878","article-title":"Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay","volume":"37","author":"Garc\u00eda","year":"2008","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nrl.2011.04.015_bib0260","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1212\/01.wnl.0000336345.70511.0f","volume":"72","author":"England","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.nrl.2011.04.015_bib0265","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1159\/000472166","article-title":"Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study","volume":"4","author":"Nelis","year":"1996","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0270","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1159\/000314351","article-title":"Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics","volume":"35","author":"Nicolaou","year":"2010","journal-title":"Neuroepidemiology"},{"key":"10.1016\/j.nrl.2011.04.015_bib0275","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/mus.21643","article-title":"Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene","volume":"42","author":"Banchs","year":"2010","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nrl.2011.04.015_bib0280","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1385\/NMM:8:1-2:75","article-title":"Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease","volume":"8","author":"Dubourg","year":"2006","journal-title":"Neuromolecular Med"},{"key":"10.1016\/j.nrl.2011.04.015_bib0285","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1002\/mus.10197","article-title":"Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy","volume":"26","author":"Plant\u00e9-Bordeneuve","year":"2002","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nrl.2011.04.015_bib0290","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/mus.10403","article-title":"Original descriptions of peroneal muscular atrophy","volume":"28","author":"Berciano","year":"2003","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nrl.2011.04.015_bib0295","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1111\/j.1399-0004.2007.00774.x","article-title":"The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4","volume":"71","author":"Claramunt","year":"2007","journal-title":"Clin Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0300","doi-asserted-by":"crossref","first-page":"4603","DOI":"10.1093\/hmg\/ddp427","article-title":"Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway","volume":"18","author":"Lupo","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0305","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/S0960-8966(00)00149-8","article-title":"Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies","volume":"10","author":"Colomer","year":"2000","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nrl.2011.04.015_bib0310","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1038\/ejhg.2009.99","article-title":"A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -Russe (HMSNR)","volume":"17","author":"Hantke","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0315","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/jhg.2008.13","article-title":"Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype","volume":"54","author":"Abe","year":"2009","journal-title":"J Hum Genet"},{"key":"10.1016\/j.nrl.2011.04.015_bib0320","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1002\/ana.21728","article-title":"A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy","volume":"66","author":"Yum","year":"2009","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nrl.2011.04.015_bib0325","doi-asserted-by":"crossref","first-page":"1660","DOI":"10.1212\/01.wnl.0000319696.14225.67","article-title":"Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN\/CMT type 2","volume":"71","author":"Houlden","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.nrl.2011.04.015_bib0330","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1001\/archneurol.2009.284","article-title":"Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations","volume":"66","author":"Calvo","year":"2009","journal-title":"Arch Neurol"},{"key":"10.1016\/j.nrl.2011.04.015_bib0335","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ana.22272","article-title":"The death panel for Charcot-Marie-Tooth panels","volume":"69","author":"Amato","year":"2011","journal-title":"Ann Neurol"}],"container-title":["Neurolog\u00eda"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0213485311002271?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0213485311002271?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,6,12]],"date-time":"2019-06-12T11:31:28Z","timestamp":1560339088000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0213485311002271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4]]},"references-count":67,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["S0213485311002271"],"URL":"https:\/\/doi.org\/10.1016\/j.nrl.2011.04.015","relation":{},"ISSN":["0213-4853"],"issn-type":[{"value":"0213-4853","type":"print"}],"subject":[],"published":{"date-parts":[[2012,4]]}}}