{"id":68670,"date":"2018-03-09T23:13:01","date_gmt":"2018-03-09T23:13:01","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-genetico-del-sa%c2%adndrome-steele-richardson-olszewski-y-otras-demencias\/"},"modified":"2018-03-09T23:13:01","modified_gmt":"2018-03-09T23:13:01","slug":"analisis-genetico-del-sa%c2%adndrome-steele-richardson-olszewski-y-otras-demencias","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-genetico-del-sa%c2%adndrome-steele-richardson-olszewski-y-otras-demencias\/","title":{"rendered":"An\u00e1lisis gen\u00e9tico del s\u00edndrome steele-richardson-olszewski y otras demencias"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Raquel Ros Macho-quevedo <\/strong><\/h2>\n<p>Este trabajo ha consistido en la b\u00fasqueda de las posibles lesiones gen\u00e9ticas responsables de la taupat\u00edas,enfermedades que constituyen despu\u00e9s de la enfermedad de alzheimer y parkinson el grupo emergente m\u00e1s importante de enfermedades neurodegenerativas.En especial nos hemos centrado en el estudio de la par\u00e1lisis supranuclear progresiva, tanto espor\u00e1dica como familiar y en las demencias frontotemporales.  nuestros an\u00e1lisis han permitido en el caso de  la psp:  . La localizaci\u00f3n de un locus en una gran familia espa\u00f1ola , con confirmaci\u00f3n patol\u00f3gica en el probando, en el cromosoma 1 en la regi\u00f3n 1q31.  . La identificaci\u00f3n como factores de riesgo , tanto enlos casos espor\u00e1dicos como familiares, de polimorfismos situados en los genes tau,sth y park2.  . Una nueva mutaci\u00f3n en el gen tau en una familia con diagn\u00f3stico cl\u00ednico y patol\u00f3fico de psp.  respecto a otras demencias degenerativas no alzheimer, el an\u00e1lisis del gen tau en los 33 casos estudiados nos ha permitido  la identificaci\u00f3n de tres mutaciones en el gen tau, dos ya reportadas, en dos pacientes con demencia frontotemporal y una nueva,en un caso de  afasia progresiva primaria.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>An\u00e1lisis gen\u00e9tico del s\u00edndrome steele-richardson-olszewski y otras demencias<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 An\u00e1lisis gen\u00e9tico del s\u00edndrome steele-richardson-olszewski y otras demencias <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Raquel Ros Macho-quevedo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 27\/06\/2004<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Justo Garc\u00eda  De Y\u00e9benes<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: pedro Lorenzo fernandez <\/li>\n<li>adriano Jimenez escrig (vocal)<\/li>\n<li>Jes\u00fas Avila de grado (vocal)<\/li>\n<li> San koman cos-gayon Carlos (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Raquel Ros Macho-quevedo Este trabajo ha consistido en la b\u00fasqueda de las posibles lesiones gen\u00e9ticas responsables de [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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