{"id":12829,"date":"2017-03-16T13:40:47","date_gmt":"2017-03-16T12:40:47","guid":{"rendered":"https:\/\/www.fundacionisabelgemio.com\/non-classifiee\/equipo-investigacion-dr-juan-vilchez-instituto-investigacion-sanitaria-hospital-universitario-politecnico-la-fe-valencia"},"modified":"2020-04-15T22:07:56","modified_gmt":"2020-04-15T21:07:56","slug":"equipo-investigacion-dr-juan-vilchez-instituto-investigacion-sanitaria-hospital-universitario-politecnico-la-fe-valencia","status":"publish","type":"post","link":"https:\/\/www.fundacionisabelgemio.com\/fr\/comite-fr-2\/equipo-investigacion-dr-juan-vilchez-instituto-investigacion-sanitaria-hospital-universitario-politecnico-la-fe-valencia","title":{"rendered":"Equipo de Investigaci\u00f3n Dr. Juan Vilchez. Instituto de Investigaci\u00f3n Sanitaria Hospital Universitario y Polit\u00e9cnico La Fe de Valencia"},"content":{"rendered":"<p><strong>L\u00edneas de investigaci\u00f3n y publicaciones\u00a0<\/strong><\/p>\n<ol>\n<li><strong>Caracterizaci\u00f3n cl\u00ednica y gen\u00e9tica<\/strong> de algunas distrofias musculares distales y de cinturas como la miopat\u00eda de Miyoshi, la miopat\u00eda de Laing o la distrofia LGMD1F que son enfermedades raras, pero que por razones hist\u00f3ricas son muy prevalentes en Sueca, la comarca de la Safor y en la provincia de Castell\u00f3n. Esto nos ha brindado la oportunidad de estudiar a fondo sus fenotipos, localizar sus genes responsables y poner en marcha investigaciones encaminadas a la b\u00fasqueda de su tratamiento. Para ello hemos buscado la colaboraci\u00f3n de prestigiosos cient\u00edficos espa\u00f1oles e internacionales. La publicaciones m\u00e1s recientes sobre estos temas son:<\/li>\n<\/ol>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21395566\">Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.<\/a>\u00a0Clin Genet. 2012 May;81(5):491-4.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1111\/j.1399-0004.2011.01667.x\">https:\/\/dx.doi.org\/10.1111\/j.1399-0004.2011.01667.x<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23543484\">Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.<\/a>\u00a0Brain. 2013 May;136(Pt 5):1508-17.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1093\/brain\/awt074\">https:\/\/dx.doi.org\/10.1093\/brain\/awt074<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23632945\">Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.<\/a>\u00a0J Neurol. 2013 Aug;260(8):2033-41. doi: 10.1007\/s00415-013-6931-1.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1007\/s00415-013-6931-1\">https:\/\/dx.doi.org\/10.1007\/s00415-013-6931-1<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24664454\">Novel mutations widen the phenotypic spectrum of slow skeletal\/\u03b2-cardiac myosin (MYH7) distal myopathy.<\/a>\u00a0Hum Mutat. 2014 Jul;35(7):868-79.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1002\/humu.22553\">https:\/\/dx.doi.org\/10.1002\/humu.22553<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27796757\">Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.<\/a>\u00a0Mol Neurobiol. 2016 Oct 29.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1007\/s12035-016-0242-3%C3%A7\">https:\/\/dx.doi.org\/10.1007\/s12035-016-0242-3\u00e7<\/a><\/li>\n<\/ul>\n<ol start=\"2\">\n<li><strong>Las Miastenias<\/strong> cong\u00e9nitas son enfermedades raras causadas por mutaciones de genes que codifican los componentes de transmisi\u00f3n sin\u00e1ptica neuromuscular. Son extraordinariamente complejas de diagnosticar, pero muy agradecidas porque aplicando tratamientos espec\u00edficos pueden mejorar notablemente. Tambi\u00e9n pueden beneficiarse en un futuro no lejano de los avances en terapia g\u00e9nica. En los \u00faltimos diez a\u00f1os venimos trabajando con grupos internacionales, descubriendo nuevos genes y buscando alternativas terap\u00e9uticas. Las publicaciones recientes sobre ese tema son:<\/li>\n<\/ol>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21975507\">Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.<\/a>J Neurol. 2012 May;259(5):838-50. doi: 10.1007\/s00415-011-6262-z.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1007\/s00415-011-6262-z\">https:\/\/dx.doi.org\/10.1007\/s00415-011-6262-z<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21822932\">A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.<\/a>\u00a0J Neurol. 2012 Mar;259(3):474-81. doi: 10.1007\/s00415-011-6204-9.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1007\/s00415-011-6204-9\">https:\/\/dx.doi.org\/10.1007\/s00415-011-6204-9<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27634344\">Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.<\/a>\u00a0Neuromuscul Disord. 2016 Nov;26(11):789-795.\u00a0<a href=\"http:\/\/dx.doi.org\/10.1016\/j.nmd.2016.08.005\">http:\/\/dx.doi.org\/10.1016\/j.nmd.2016.08.005<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26782015\">Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.<\/a>\u00a0Neuromuscul Disord. 2016 Feb;26(2):153-9. doi: 10.1016\/j.nmd.2015.10.013.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1016\/j.nmd.2015.10.013\">https:\/\/dx.doi.org\/10.1016\/j.nmd.2015.10.013<\/a><\/li>\n<\/ul>\n<ol start=\"3\">\n<li><strong>Ensayos cl\u00ednicos y estudios<\/strong> sobre la historia natural de la distrofia muscular de Duchenne-Becker: hemos constituido un equipo de m\u00e9dicos cl\u00ednicos, investigadores, fisioterapeutas con una alta preparaci\u00f3n y entrenamiento en las t\u00e9cnicas de ensayos cl\u00ednicos en esta enfermedad rara, lo que ha dado lugar a que se nos ha seleccionado para participar en la mayor\u00eda de los ensayos de terapia g\u00e9nica y otras mol\u00e9culas de vanguardia, como refleja algunas de las publicaciones siguientes:<\/li>\n<\/ol>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23681930\">The <strong>6-minute walk test<\/strong> and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study.<\/a>\u00a0Muscle Nerve. 2013 Sep;48(3):343-56. doi: 10.1002\/mus.23902.\u00a0<a href=\"http:\/\/doi.wiley.com\/10.1002\/mus.23902\">http:\/\/doi.wiley.com\/10.1002\/mus.23902<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23674289\">The <strong>6-minute walk test<\/strong> and other clinical endpoints in Duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study.<\/a>\u00a0Muscle Nerve. 2013 Sep;48(3):357-68.\u00a0<a href=\"http:\/\/doi.wiley.com\/10.1002\/mus.23905\">http:\/\/doi.wiley.com\/10.1002\/mus.23905<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25042182\">Ataluren treatment of patients with nonsense mutation dystrophinopathy.<\/a>\u00a0Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002\/mus.24332\u00a0<a href=\"https:\/\/dx.doi.org\/10.1002%2Fmus.24332\">https:\/\/dx.doi.org\/10.1002%2Fmus.24332<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25907158\">Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial.<\/a>\u00a0Lancet. 2015 May 2;385(9979):1748-57. doi: 10.1016\/S0140-6736(15)60025-3.\u00a0<a href=\"http:\/\/dx.doi.org\/10.1016\/S0140-6736%2815%2960025-3\">http:\/\/dx.doi.org\/10.1016\/S0140-6736(15)60025-3<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27238057\">Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy.<\/a>\u00a0Neuromuscul Disord. 2016 Aug;26(8):473-80. doi: 10.1016\/j.nmd.2016.05.008.\u00a0<a href=\"http:\/\/dx.doi.org\/10.1016\/j.nmd.2016.05.008\">http:\/\/dx.doi.org\/10.1016\/j.nmd.2016.05.008<\/a><\/li>\n<\/ul>\n<ol start=\"4\">\n<li><strong>Neuropat\u00edas gen\u00e9ticas:<\/strong> nuestra unidad de enfermedades neuromusculares cuenta con una larga tradici\u00f3n en la investigaci\u00f3n y caracterizaci\u00f3n cl\u00ednica y patol\u00f3gica de los diferentes tipos de Enfermedad de Charcot-Marie-Tooth. Hemos colaborado estrechamente con los grupos de gen\u00e9tica nacionales del Dr Palau y Dra Espin\u00f3s o internacionales como el laboraratorio del Prof Timerman de Amberes.<\/li>\n<\/ol>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21703725\">[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].<\/a>\u00a0Neurologia. 2012 Apr;27(3):169-78. doi: 10.1016\/j.nrl.2011.04.015.<\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24078732\">Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.<\/a>\u00a0Neurology. 2013 Oct 29;81(18):1617-25.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1212\/WNL.0b013e3182a9f56a\">https:\/\/dx.doi.org\/10.1212\/WNL.0b013e3182a9f56a<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24459106\">Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.<\/a>\u00a0Brain. 2014 Mar;137(Pt 3):683-92. doi: 10.1093\/brain\/awt357.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1093\/brain\/awt357\">https:\/\/dx.doi.org\/10.1093\/brain\/awt357<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24614092\">Vestibular impairment in Charcot-Marie-Tooth disease type 4C.<\/a>\u00a0J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):824-7. doi: 10.1136\/jnnp-2013-\u00a0<a href=\"https:\/\/dx.doi.org\/10.1136\/jnnp-2013-307421\">https:\/\/dx.doi.org\/10.1136\/jnnp-2013-307421<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26204789\">The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.<\/a>\u00a0Eur J Neurol. 2015 Dec;22(12):1548-55. doi: 10.1111\/ene.12782\u00a0<a href=\"https:\/\/dx.doi.org\/10.1111\/ene.12782\">https:\/\/dx.doi.org\/10.1111\/ene.12782<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26497905\">Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.<\/a>\u00a0Brain. 2016 Jan;139(Pt 1):62-72.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1093\/brain\/awv311\">https:\/\/dx.doi.org\/10.1093\/brain\/awv311<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27083531\">Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G&gt;A mutation.<\/a>\u00a0J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1265-1268. doi: 10.1136\/jnnp-\u00a0<a href=\"https:\/\/dx.doi.org\/10.1136\/jnnp-2015-312890\">https:\/\/dx.doi.org\/10.1136\/jnnp-2015-312890<\/a><\/li>\n<\/ul>\n<ol start=\"5\">\n<li><strong>Otras colaboraciones:<\/strong> adem\u00e1s de nuestras l\u00edneas de trabajo habituales hemos colaborado y participado en proyectos con otros grupos espa\u00f1oles (Dra Illa de San Pau de Barcelona, Dr. Artero-Universidad de Valencia, etc.) e internacionales.<\/li>\n<\/ol>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22980766\">Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.<\/a>\u00a0Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S148-54. doi:\u00a0<a href=\"https:\/\/dx.doi.org\/10.1016\/j.nmd.2012.05.011\">https:\/\/dx.doi.org\/10.1016\/j.nmd.2012.05.011<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22492103\">Clinical guidelines for late-onset Pompe disease.<\/a>\u00a0Rev Neurol. 2012 Apr 16;54(8):497-507.<\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23139243\">Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients.<\/a>\u00a0Hum Mol Genet. 2013 Feb 15;22(4):704-16.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1093\/hmg\/dds478\">https:\/\/dx.doi.org\/10.1093\/hmg\/dds478<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26092529\">Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model.<\/a>\u00a0Dis Model Mech. 2015 Jul 1;8(7):679-90.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1242\/dmm.018127\">https:\/\/dx.doi.org\/10.1242\/dmm.018127<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25998610\">Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.<\/a>\u00a0Neuromuscul Disord. 2015 Jul;25(7):548-53. doi: 10.1016\/j.nmd.2015.04.008.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1016\/j.nmd.2015.04.008\">https:\/\/dx.doi.org\/10.1016\/j.nmd.2015.04.008<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25806482\">[Guidelines for monitoring late-onset Pompe disease.Sociedad Espa\u00f1ola de Medicina Interna (SEMI), Sociedad Espa\u00f1ola de Neurolog\u00eda (SEN) y Sociedad Espa\u00f1ola de Neumolog\u00eda y Cirug\u00edaTor\u00e1cica (SEPAR)].<\/a>\u00a0Rev Neurol. 2015 Apr 1;60(7):321-8.<\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26613114\">Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia.<\/a>\u00a0Amyotroph Lateral Scler Frontotemporal Degener.\u00a0<a href=\"https:\/\/dx.doi.org\/10.3109\/21678421.2015.1112407\">https:\/\/dx.doi.org\/10.3109\/21678421.2015.1112407<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27121928\">Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. An important distinction in descriptive studies.<\/a>\u00a0Ann Neurol. 2016 Jul;80(1):169-70.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1002\/ana.24671\">https:\/\/dx.doi.org\/10.1002\/ana.24671<\/a><\/li>\n<\/ul>\n<ul>\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26573435\">Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA<\/a>\u00a0Neuromuscul Disord. 2016 Jan;26(1):33-40.\u00a0<a href=\"https:\/\/dx.doi.org\/10.1016\/j.nmd.2015.10.001\">https:\/\/dx.doi.org\/10.1016\/j.nmd.2015.10.001<\/a><\/li>\n<\/ul>\n<p>Actualmente:<\/p>\n<ul>\n<li>1 art\u00edculo con resultados cl\u00ednicos en fase de elaboraci\u00f3n avanzado previsto para publicar en revista de alto impacto.<\/li>\n<li>1 articulo experimental con estudios <em>in vitro<\/em> de los mecanismos celulares y moleculares relacionados con los diferentes puntos de ruptura.<\/li>\n<li>Posible patente del modelo celular editado con tecnolog\u00eda CRISPR<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>L\u00edneas de investigaci\u00f3n y publicaciones\u00a0 Caracterizaci\u00f3n cl\u00ednica y gen\u00e9tica de algunas distrofias musculares distales y de cinturas como la miopat\u00eda [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":18566,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[723],"tags":[],"class_list":["post-12829","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-comite-fr-2"],"_links":{"self":[{"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/posts\/12829","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/comments?post=12829"}],"version-history":[{"count":1,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/posts\/12829\/revisions"}],"predecessor-version":[{"id":12832,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/posts\/12829\/revisions\/12832"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/media\/18566"}],"wp:attachment":[{"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/media?parent=12829"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/categories?post=12829"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/tags?post=12829"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}