{"id":"https://openalex.org/W2575940198","doi":null,"title":"Enfermedad de Charcot-Marie-Tooth: actualidad y perspectivas","display_name":"Enfermedad de Charcot-Marie-Tooth: actualidad y perspectivas","publication_year":2012,"publication_date":"2012-01-01","ids":{"openalex":"https://openalex.org/W2575940198","mag":"2575940198"},"language":"es","primary_location":{"id":"mag:2575940198","doi":null,"is_oa":false,"landing_page_url":"https://www.medigraphic.com/pdfs/arcneu/ane-2012/ane122f.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S4210193814","display_name":"Archivos de Neurociencias","issn_l":"0187-4705","issn":["0187-4705","1028-5938","2954-4122"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["latindex","poland-20","russia-white-list-4","scielo"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Archivos de neurociencias (M\u00e9xico, D.F.)","raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050270258","display_name":"Ricardo Alejandro Lara Aguilar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I193181351","display_name":"Universidad de Guadalajara","ror":"https://ror.org/043xj7k26","country_code":"MX","type":"education","lineage":["https://openalex.org/I193181351"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Ricardo Alejandro Lara Aguilar","raw_affiliation_strings":["Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Guadalajara, Jalisco, M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Guadalajara, Jalisco, M\u00e9xico","institution_ids":["https://openalex.org/I193181351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025451618","display_name":"Clara Ibet Ju\u00e1rez-V\u00e1zquez","orcid":"https://orcid.org/0000-0003-0201-1945","observed_orcids":["https://orcid.org/0000-0003-0201-1945"]},"institutions":[{"id":"https://openalex.org/I193181351","display_name":"Universidad de Guadalajara","ror":"https://ror.org/043xj7k26","country_code":"MX","type":"education","lineage":["https://openalex.org/I193181351"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Clara Ibet Ju\u00e1rez V\u00e1zquez","raw_affiliation_strings":["Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Guadalajara, Jalisco, M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Guadalajara, Jalisco, M\u00e9xico","institution_ids":["https://openalex.org/I193181351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052740560","display_name":"Karina Janett Ju\u00e1rez Rend\u00f3n","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I193181351","display_name":"Universidad de Guadalajara","ror":"https://ror.org/043xj7k26","country_code":"MX","type":"education","lineage":["https://openalex.org/I193181351"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Karina Janett Ju\u00e1rez Rend\u00f3n","raw_affiliation_strings":["Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Guadalajara, Jalisco, M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Guadalajara, Jalisco, M\u00e9xico","institution_ids":["https://openalex.org/I193181351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113730618","display_name":"Bianca Ethel Guti\u00e9rrez-Amavizca","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I193181351","display_name":"Universidad de Guadalajara","ror":"https://ror.org/043xj7k26","country_code":"MX","type":"education","lineage":["https://openalex.org/I193181351"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Blanca Ethel Guti\u00e9rrez Amavizca","raw_affiliation_strings":["Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Guadalajara, Jalisco, M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Guadalajara, Jalisco, M\u00e9xico","institution_ids":["https://openalex.org/I193181351"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5069907080","display_name":"Patricio Barros\u2010N\u00fa\u00f1ez","orcid":"https://orcid.org/0000-0002-6607-5553","observed_orcids":["https://orcid.org/0000-0002-6607-5553"]},"institutions":[{"id":"https://openalex.org/I164915025","display_name":"Mexican Social Security Institute","ror":"https://ror.org/03xddgg98","country_code":"MX","type":"government","lineage":["https://openalex.org/I164915025"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Patricio Barros\u2010N\u00fa\u00f1ez","raw_affiliation_strings":["Instituto Mexicano del Seguro Social, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Guadalajara, Jalisco, M\u00e9xico"],"raw_orcid":"https://orcid.org/0000-0002-6607-5553","affiliations":[{"raw_affiliation_string":"Instituto Mexicano del Seguro Social, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Guadalajara, Jalisco, M\u00e9xico","institution_ids":["https://openalex.org/I164915025"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"17","issue":"2","first_page":"110","last_page":"118"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11735","display_name":"Peripheral Neuropathies and Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11752","display_name":"Cancer Treatment and Pharmacology","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/charcot-marie-tooth-disease","display_name":"Charcot-Marie-Tooth disease","score":1.0},{"id":"https://openalex.org/keywords/demyelinating-neuropathy","display_name":"demyelinating neuropathy","score":0.9169999957084656},{"id":"https://openalex.org/keywords/axonal-polyneuropathy","display_name":"axonal neuropathy","score":0.9919999837875366},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.8889999985694885},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9369999766349792},{"id":"https://openalex.org/keywords/peripheral-nerve-function","display_name":"peripheral nerve function","score":0.722000002861023},{"id":"https://openalex.org/keywords/distal-muscle-atrophy","display_name":"distal muscle atrophy","score":0.7179999947547913},{"id":"https://openalex.org/keywords/hyporeflexia","display_name":"hyporeflexia","score":0.9100000262260437},{"id":"https://openalex.org/keywords/sensory-impairment","display_name":"sensory impairment","score":0.6029999852180481},{"id":"https://openalex.org/keywords/clinical-classification","display_name":"clinical classification","score":0.6019999980926514},{"id":"https://openalex.org/keywords/therapeutic-target","display_name":"therapeutic target","score":0.49900001287460327}],"concepts":[{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.8833088278770447},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.5141820907592773}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2575940198","doi":null,"is_oa":false,"landing_page_url":"https://www.medigraphic.com/pdfs/arcneu/ane-2012/ane122f.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S4210193814","display_name":"Archivos de Neurociencias","issn_l":"0187-4705","issn":["0187-4705","1028-5938","2954-4122"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["latindex","poland-20","russia-white-list-4","scielo"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Archivos de neurociencias (M\u00e9xico, D.F.)","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":47,"referenced_works":["https://openalex.org/W19584009","https://openalex.org/W189211965","https://openalex.org/W352985956","https://openalex.org/W1538387601","https://openalex.org/W1562792231","https://openalex.org/W1844980625","https://openalex.org/W1964115022","https://openalex.org/W1976857475","https://openalex.org/W1979137179","https://openalex.org/W1991960023","https://openalex.org/W1992692259","https://openalex.org/W1998700739","https://openalex.org/W2001507979","https://openalex.org/W2009032071","https://openalex.org/W2012841879","https://openalex.org/W2012859692","https://openalex.org/W2017112201","https://openalex.org/W2022116468","https://openalex.org/W2025192402","https://openalex.org/W2032985825","https://openalex.org/W2033994524","https://openalex.org/W2039855346","https://openalex.org/W2046745652","https://openalex.org/W2049236630","https://openalex.org/W2049374795","https://openalex.org/W2051224238","https://openalex.org/W2051233905","https://openalex.org/W2068996935","https://openalex.org/W2072995598","https://openalex.org/W2082903813","https://openalex.org/W2101728365","https://openalex.org/W2102244428","https://openalex.org/W2104842054","https://openalex.org/W2109638454","https://openalex.org/W2110786091","https://openalex.org/W2116563948","https://openalex.org/W2134901675","https://openalex.org/W2136746857","https://openalex.org/W2141145973","https://openalex.org/W2147598752","https://openalex.org/W2151449179","https://openalex.org/W2161481157","https://openalex.org/W2171397001","https://openalex.org/W2231095743","https://openalex.org/W2291511762","https://openalex.org/W2296605668","https://openalex.org/W2394927398"],"related_works":["https://openalex.org/W1571348971","https://openalex.org/W7019007830","https://openalex.org/W7058415060","https://openalex.org/W2234304311","https://openalex.org/W2951079524","https://openalex.org/W2067513534","https://openalex.org/W2579910551","https://openalex.org/W2043473796","https://openalex.org/W2949349323","https://openalex.org/W2952813922"],"abstract_inverted_index":{"La":[0],"enfermedad":[1,129,180],"de":[2,10,27,36,62,72,127,157,160,186,213,218],"Charcot-Marie-Tooth":[3,55],"se":[4,141,208],"define":[5],"como":[6,40,121],"una":[7,61,70,87],"polineuropatia":[8],"sensitivo-motora":[9],"tipo":[11],"desmielinizante":[12],"o":[13],"axonal,":[14],"que":[15,46,59,114,139,149,192,207],"presenta":[16],"heterogeneidad":[17,175],"genetica":[18,156],"y":[19,44,84,106,135,163,191,200,220],"clinica,":[20],"esta":[21,37,51,179],"asociada":[22,110],"con":[23,69,104,183],"mutaciones":[24,144],"en":[25,169,178,193],"mas":[26,67,133],"30":[28],"genes":[29,189],"distintos.":[30],"Objetivos:":[31],"actualizar":[32],"el":[33,101,216],"panorama":[34],"clinico":[35,81],"enfermedad,":[38],"asi":[39,120],"los":[41,187],"avances":[42],"moleculares":[43],"terapeuticos":[45],"contribuyen":[47,195],"a":[48,111,118,138,196],"comprender":[49],"mejor":[50],"heterogenea":[52],"entidad.":[53],"Desarrollo:":[54],"es":[56,82,130],"un":[57,152,210],"padecimiento":[58],"representa":[60],"las":[63,170],"neuropatias":[64],"hereditarias":[65],"mixtas":[66],"comunes,":[68],"incidencia":[71],"1":[73],"por":[74,151,164,205],"cada":[75,131],"2,500":[76],"nacidos":[77],"vivos.":[78],"El":[79],"espectro":[80],"amplio":[83],"no":[85],"hay":[86],"correlacion":[88],"genotipo-fenotipo":[89],"establecida;":[90],"sin":[91],"embargo,":[92],"algunas":[93],"caracteristicas":[94],"clinico-electrofisiologicas":[95],"permiten":[96],"clasificar":[97],"este":[98,146],"padecimiento.":[99],"Tipicamente":[100],"paciente":[102],"cursa":[103],"atrofia":[105],"debilidad":[107],"muscular":[108],"distal,":[109],"perdida":[112],"sensorial":[113],"va":[115],"desde":[116],"leve":[117],"moderada":[119],"hiporreflexia.":[122],"Conclusiones:":[123],"la":[124,128,155,167,174,184,198],"clasificacion":[125],"clinica":[126,176],"vez":[132],"extensa":[134],"compleja":[136],"debido":[137],"constantemente":[140],"detectan":[142],"nuevas":[143],"causando":[145],"padecimiento,":[147],"lo":[148,206],"permite":[150],"lado":[153],"aclarar":[154],"ciertas":[158],"variantes":[159,171],"CMT":[161],"raras":[162],"otro":[165],"aumentar":[166],"informacion":[168],"clasicas.":[172],"Ademas,":[173],"mostrada":[177],"parece":[181],"coincidir":[182],"participacion":[185],"distintos":[188],"descubiertos":[190],"conjunto":[194],"mantener":[197],"funcion":[199],"estructura":[201],"del":[202],"nervio":[203],"periferico,":[204],"vuelve":[209],"importante":[211],"blanco":[212],"investigacion":[214],"para":[215],"desarrollo":[217],"nuevos":[219],"mejores":[221],"tratamientos":[222]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2019,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2017-01-26T00:00:00"}
