{"id":457,"date":"2025-03-27T06:21:20","date_gmt":"2025-03-27T05:21:20","guid":{"rendered":"https:\/\/www.neuromuscularbcn.org\/?page_id=457"},"modified":"2025-04-29T12:46:07","modified_gmt":"2025-04-29T10:46:07","slug":"identificacio-de-biomarcadors-en-malalties-de-neurona-motora","status":"publish","type":"page","link":"https:\/\/www.neuromuscularbcn.org\/ca\/recerca\/esclerosi-lateral-amiotrofica\/identificacio-de-biomarcadors-en-malalties-de-neurona-motora\/","title":{"rendered":"Identificaci\u00f3 de biomarcadors en malalties de neurona motora"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1422.72px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column cnt_PagGen_Content_col\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\" data-scroll-devices=\"small-visibility,medium-visibility,large-visibility\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-tabs fusion-tabs-1 classic nav-is-justified cnt_pestanas horizontal-tabs icon-position-left mobile-mode-carousel mobile-sticky-tabs\" style=\"--awb-title-border-radius-top-left:0px;--awb-title-border-radius-top-right:0px;--awb-title-border-radius-bottom-right:0px;--awb-title-border-radius-bottom-left:0px;--awb-alignment:start;--awb-inactive-color:#ffffff;--awb-background-color:var(--awb-color1);--awb-border-color:#ffffff;--awb-active-border-color:var(--awb-color5);\"><div class=\"nav\"><ul class=\"nav-tabs nav-justified\" role=\"tablist\"><li class=\"active\" role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-244e7c90d8bc83b90cb\" aria-selected=\"true\" id=\"fusion-tab-informaci\u00f3general\" href=\"#tab-244e7c90d8bc83b90cb\"><h4 class=\"fusion-tab-heading\">Informaci\u00f3 General<\/h4><\/a><\/li><li role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-f9ae1f84da6a63103e9\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-publicacions\" href=\"#tab-f9ae1f84da6a63103e9\"><h4 class=\"fusion-tab-heading\">Publicacions<\/h4><\/a><\/li><\/ul><\/div><div class=\"tab-content\"><div class=\"tab-pane fade fusion-clearfix in active\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-informaci\u00f3general\" id=\"tab-244e7c90d8bc83b90cb\">\n<h6>Informaci\u00f3 General<\/h6>\n<p>L\u2019objectiu principal dels nostres estudis \u00e9s caracteritzar d\u2019una manera integral el perfil de biomarcadors als pacients amb Esclerosis Lateral Amiotr\u00f2fica (ELA), estratificant-los per fenotips cl\u00ednics, en comparaci\u00f3 amb controls i pacients amb dem\u00e8ncia front\u00f3-temporal (DFT), per\u00a0 analitzar la utilitat dels diferents biomarcadors en la definici\u00f3 de les variants cl\u00edniques i la seva utilitat com a predictor pron\u00f2stic.<\/p>\n<p>Es ben conegut que poden diferenciar-se diferents formes de malaltia de neurona motora, i que la forma en la que la malaltia progressa \u00e9s molt variable entre els diferents pacients, per\u00f2 no s\u00f3n conegudes les raons d\u2019aquesta variabilitat. No existeix un test diagn\u00f2stic espec\u00edfic de la malaltia i aquest dep\u00e8n de la identificaci\u00f3 de les caracter\u00edstiques cl\u00edniques i semiol\u00f2giques t\u00edpiques. Per aquest motiu poden oc\u00f3rrer retardaments en el reconeixement i diagn\u00f2stic de la malaltia.<\/p>\n<p>Hi ha proves convincents de que m\u00faltiples factors, entre ells el fenotip cl\u00ednic, les alteracions cognitives i conductuals, la pres\u00e8ncia d\u2019atr\u00f2fia cortical i la seva associaci\u00f3 amb factors gen\u00e8tics i patol\u00f2gics poden influir en la variabilitat de la superviv\u00e8ncia a la ELA.<\/p>\n<p>La caracteritzaci\u00f3 del perfil de biomarcadors a grans grups de pacients estratificats per fenotips cl\u00ednics, tenint en compte tots aquests factors, ens ha de permetre avaluar la seva utilitat per establir una classificaci\u00f3 precisa d\u2019aquests i identificar els factors associats a la variabilitat de superviv\u00e8ncia. Els biomarcadors poden ser rellevants en una poblaci\u00f3 en la que degut a la heterogene\u00eftat dels fenotips cl\u00ednics, el reconeixement i el diagn\u00f2stic de la malaltia es pot retardar i el pron\u00f2stic no pot ser determinat amb precisi\u00f3. L\u2019avaluaci\u00f3 d\u2019un perfil ampli de biomarcadors ha de permetre\u2019ns avaluar la seva utilitat cl\u00ednica per establir una caracteritzaci\u00f3 precisa dels pacients i identificar els factors vinculats amb la variabilitat pron\u00f2stica.<\/p>\n<p>Els nostres estudis han de permetre la investigaci\u00f3 de la relaci\u00f3 entre els diferents fenotips i els marcadors claus, i en \u00faltim terme habilitar la quantificaci\u00f3 i la validaci\u00f3 d\u2019aquestes dades a la ELA i malalties relacionades de neurona motora. Poden ajudar a identificar factors que permetin un diagn\u00f2stic preco\u00e7 i entendre la progressi\u00f3 i l\u2019extensi\u00f3 de la malaltia. El coneixement d\u2019aquest factors poden ser de gran utilitat per entendre les vies patofisiol\u00f2giques de la ELA i orientar en la cerca de tractaments dirigits, aix\u00ed com una monitoritzaci\u00f3 precisa de la progressi\u00f3 en la pr\u00e0ctica cl\u00ednica i las assajos terap\u00e8utics.<\/p>\n<p>Pels nostres projectes d\u2019investigaci\u00f3 en curs hem establert una col\u00b7laboraci\u00f3 amb l\u2019equip d\u2019investigaci\u00f3 de la Unitat de Mem\u00f2ria del nostre centre i amb el Banc de Teixits Neurol\u00f2gics del IDIBAPS. Hem constituir un grup multidisciplinari amb provada capacitat en la investigaci\u00f3 cl\u00ednica i b\u00e0sica. L\u2019experi\u00e8ncia del grup avarca tots els aspectes dels projectes en curs. Addicionalment, l\u2019equip ha demostrat la seva experi\u00e8ncia en publicacions a revistes del primer quartil, a la posada en marxa i interpretaci\u00f3 de les t\u00e8cniques utilitzades en aquest projecte i ha demostrat la seva capacitat en estudis col\u00b7laboratius.<\/p>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-publicacions\" id=\"tab-f9ae1f84da6a63103e9\">\n<h6 id=\"tit_anclaje1\" class=\"anclaje_btn_cab\">Publicacions<\/h6>\n<div class=\"cnt_publicaciones\"><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2025<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/39849490\">Single-cell RNA sequencing highlights the role of distinct natural killer subsets in sporadic amyotrophic lateral sclerosis.<\/a><\/div><div class=\"cnt_autores\">\u00c1lvarez-S\u00e1nchez E, Carbayo \u00c1, Valle-Tamayo N, Mu\u00f1oz L, Aumatell J, Torres S, Rubio-Guerra S, Garc\u00eda-Castro J, Selma-Gonz\u00e1lez J, Alcolea D, Turon-Sans J, Lle\u00f3 A, Ill\u00e1n-Gala I, Fortea J, Rojas-Garc\u00eda R, Dols-Icardo O<\/div><div class=\"cnt_rev\">J Neuroinflammation<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38960585\">Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.<\/a><\/div><div class=\"cnt_autores\">Dols-Icardo O, Carbayo \u00c1, Jeric\u00f3 I, Blasco-Mart\u00ednez O, \u00c1lvarez-S\u00e1nchez E, L\u00f3pez P\u00e9rez MA, Bernal S, Rodr\u00edguez-Santiago B, Cusco I, Turon-Sans J, Cabezas-Torres M, Caballero-\u00c1vila M, Vesperinas A, Llans\u00f3 L, Pagola-Lorz I, Torn\u00e9 L, Valle-Tamayo N, Mu\u00f1oz L, Rubio-Guerra S, Ill\u00e1n-Gala I, Cort\u00e9s-Vicente E, Gelpi E, Rojas-Garc\u00eda R<\/div><div class=\"cnt_rev\">J Neurol Neurosurg Psychiatry<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2024<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38227807\">Clinicopathological correlates in the frontotemporal lobar degeneration-motor neuron disease spectrum.<\/a><\/div><div class=\"cnt_autores\">Carbayo \u00c1, Borrego-\u00c9cija S, Turon-Sans J, Cort\u00e9s-Vicente E, Molina-Porcel L, Gasc\u00f3n-Bayarri J, Rubio M\u00c1, Povedano M, G\u00e1mez J, Sotoca J, Juntas-Morales R, Almendrote M, Marqui\u00e9 M, S\u00e1nchez-Valle R, Ill\u00e1n-Gala I, Dols-Icardo O, Rubio-Guerra S, Bernal S, Caballero-\u00c1vila M, Vesperinas A, Gelpi E, Rojas-Garc\u00eda R<\/div><div class=\"cnt_rev\">Brain<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38890531\">Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.<\/a><\/div><div class=\"cnt_autores\">Chatterjee M, \u00d6zdemir S, Fritz C, M\u00f6bius W, Kleineidam L, Mandelkow E, Biernat J, Do\u011fdu C, Peters O, Cosma NC, Wang X, Schneider LS, Priller J, Spruth E, K\u00fchn AA, Krause P, Klockgether T, Vogt IR, Kimmich O, Spottke A, Hoffmann DC, Fliessbach K, Miklitz C, McCormick C, Weydt P, Falkenburger B, Brandt M, Guenther R, Dinter E, Wiltfang J, Hansen N, B\u00e4hr M, Zerr I, Fl\u00f6el A, Nestor PJ, D\u00fczel E, Glanz W, Incesoy E, B\u00fcrger K, Janowitz D, Perneczky R, Rauchmann BS, Hopfner F, Wagemann O, Levin J, Teipel S, Kilimann I, Goerss D, Prudlo J, Gasser T, Brockmann K, Mengel D, Zimmermann M, Synofzik M, Wilke C, Selma-Gonz\u00e1lez J, Turon-Sans J, Santos-Santos MA, Alcolea D, Rubio-Guerra S, Fortea J, Carbayo \u00c1, Lle\u00f3 A, Rojas-Garc\u00eda R, Ill\u00e1n-Gala I, Wagner M, Frommann I, Roeske S, Bertram L, Heneka MT, Brosseron F, Ramirez A, Schmid M, Beschorner R, Halle A, Herms J, Neumann M, Barth\u00e9lemy NR, Bateman RJ, Rizzu P, Heutink P, Dols-Icardo O, H\u00f6glinger G, Hermann A, Schneider A<\/div><div class=\"cnt_rev\">Nat Med<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2023<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37521204\">Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.<\/a><\/div><div class=\"cnt_autores\">Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez-Atienzar S, Stark A, Chia R, Garc\u00eda-Redondo A, Rojas-Garcia R, V\u00e1zquez Costa JF, Santiago RF, Bandres-Ciga S, G\u00f3mez-Garre P, Peri\u00f1\u00e1n MT, Mir P, P\u00e9rez-Tur J, Cardona F, Menendez-Gonzalez M, Riancho J, Borrego-Hern\u00e1ndez D, Gal\u00e1n-D\u00e1vila L, Ceberio JI, Pastor P, Paradas C, Dols-Icardo O, Spanish Neurological Consortium, Traynor BJ, Feldman EL, Goutman SA<\/div><div class=\"cnt_rev\">Neurol Genet<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37293291\">Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.<\/a><\/div><div class=\"cnt_autores\">Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez-Atienzar S, Stark A, Chia R, Garc\u00eda-Redondo A, Rojas-Garcia R, V\u00e1zquez Costa JF, Fernandez Santiago R, Bandres-Ciga S, G\u00f3mez-Garre P, Peri\u00f1\u00e1n MT, Mir P, P\u00e9rez-Tur J, Cardona F, Menendez-Gonzalez M, Riancho J, Borrego-Hern\u00e1ndez D, Gal\u00e1n-D\u00e1vila L, Infante Ceberio J, Pastor P, Paradas C, Dols-Icardo O, Traynor BJ, Feldman EL, Goutman SA, Spanish Neurological Consortium<\/div><div class=\"cnt_rev\">Neurol Genet<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36681358\">Profiling TREM2 expression in amyotrophic lateral sclerosis.<\/a><\/div><div class=\"cnt_autores\">Jeric\u00f3 I, Vicu\u00f1a-Urriza J, Blanco-Luquin I, Macias M, Martinez-Merino L, Rold\u00e1n M, Rojas-Garcia R, Pagola-Lorz I, Carbayo A, De Luna N, Zelaya V, Mendioroz M<\/div><div class=\"cnt_rev\">Brain Behav Immun<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2022<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36460480\">Neuroinflammation-Related Proteins NOD2 and Spp1 Are Abnormally Upregulated in Amyotrophic Lateral Sclerosis.<\/a><\/div><div class=\"cnt_autores\">de Luna N, Carbayo \u00c1, Dols-Icardo O, Turon-Sans J, Reyes-Leiva D, Illan-Gala I, Jeric\u00f3 I, Pagola-Lorz I, Lleix\u00e0 C, Querol L, Rubio-Guerra S, Alcolea D, Fortea J, Lle\u00f3 A, Cort\u00e9s-Vicente E, Rojas-Garcia R<\/div><div class=\"cnt_rev\">Neurol Neuroimmunol Neuroinflamm<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36484631\">Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.<\/a><\/div><div class=\"cnt_autores\">V\u00e1zquez-Costa JF, Borrego-Hern\u00e1ndez D, Paradas C, G\u00f3mez-Caravaca MT, Rojas-Garcia R, Varona L, Povedano M, Garc\u00eda-Sobrino T, Jeric\u00f3 Pascual I, Guti\u00e9rrez A, Riancho J, Turon-Sans J, Assialioui A, P\u00e9rez-Tur J, Sevilla T, Esteban P\u00e9rez J, Garc\u00eda-Redondo A, ALSGESCO<\/div><div class=\"cnt_rev\">Eur J Neurol<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35102318\">Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.<\/a><\/div><div class=\"cnt_autores\">van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Ba\u015fak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorar\u00f9 G, Siciliano G, Filosto M, Padovani A, Chi\u00f2 A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-Garc\u00eda R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cichon S, N\u00f6then MM, Amouyel P, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Traynor BJ, Singleton AB, Mitne Neto M, Cauchi RJ, Ophoff RA, Wiedau-Pazos M, Lomen-Hoerth C, van Deerlin VM, Grosskreutz J, Roediger A, Gaur N, J\u00f6rk A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte OW, Steinbach R, H\u00fcbner CA, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glava\u010d M, Glava\u010d D, Stevi\u0107 Z, Drory V, Povedano M, Blair IP, Kiernan MC, Benyamin B, Henderson RD, Furlong S, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson GA, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Mather KA, Sachdev PS, Henders AK, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau GA, Silani V, Curtis CJ, Breen G, Glass JD, Brown RH Jr, Landers JE, Shaw CE, Andersen PM, Groen EJN, van Es MA, Pasterkamp RJ, Fan D, Garton FC, McRae AF, Davey Smith G, Gaunt TR, Eberle MA, Mill J, McLaughlin RL, Hardiman O, Kenna KP, Wray NR, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg LH, Veldink JH<\/div><div class=\"cnt_rev\">Nat Genet<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35115992\">Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies.<\/a><\/div><div class=\"cnt_autores\">Reyes-Leiva D, Dols-Icardo O, Sirisi S, Cort\u00e9s-Vicente E, Turon-Sans J, de Luna N, Blesa R, Belbin O, Montal V, Alcolea D, Fortea J, Lle\u00f3 A, Rojas-Garc\u00eda R, Ill\u00e1n-Gala I<\/div><div class=\"cnt_rev\">Front Neurol<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2021<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34873335\">Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.<\/a><\/div><div class=\"cnt_autores\">van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al 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L, Heeman B, B\u00e4umer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-Garc\u00eda R, Clarim\u00f3n J, Lle\u00f3 A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Sch\u00f6ls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendon\u00e7a A, Miltenberger-Milt\u00e9nyi G, Sim\u00f5es do Couto F, Ramirez A, Jessen F, Heneka MT, G\u00f3mez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hern\u00e1ndez I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Ros\u00e1rio Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S<\/div><div class=\"cnt_rev\">Hum Mutat<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2016<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27224687\">Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.<\/a><\/div><div class=\"cnt_autores\">Aragones JM, Altimiras J, Roura-Poch P, Homs E, Bajo L, Povedano M, Cort\u00e9s-Vicente E, Illa I, Al-Chalabi A, Rojas-Garc\u00eda R<\/div><div class=\"cnt_rev\">Amyotroph Lateral Scler Frontotemporal Degener<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27455348\">Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.<\/a><\/div><div class=\"cnt_autores\">van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, V\u00f5sa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glava\u010d M, Koritnik B, Zidar J, Leonardis L, Gro\u0161elj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-Garc\u00eda R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, D\u00fcrr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, N\u00f6then MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorar\u00f9 G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ, PARALS Registry, SLALOM Group, SLAP Registry, FALS Sequencing Consortium, SLAGEN Consortium, NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, H\u00fcbner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH<\/div><div class=\"cnt_rev\">Nat Genet<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27236050\">ALS: A bucket of genes, environment, metabolism and unknown ingredients.<\/a><\/div><div class=\"cnt_autores\">Zufir\u00eda M, Gil-Bea FJ, Fern\u00e1ndez-Torr\u00f3n R, Poza JJ, Mu\u00f1oz-Blanco JL, Rojas-Garc\u00eda R, Riancho J, L\u00f3pez de Munain A<\/div><div class=\"cnt_rev\">Prog Neurobiol<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2015<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26152333\">Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.<\/a><\/div><div class=\"cnt_autores\">Dols-Icardo O, Nebot I, Gorostidi A, Ortega-Cubero S, Hern\u00e1ndez I, Rojas-Garc\u00eda R, Garc\u00eda-Redondo A, Povedano M, Llad\u00f3 A, \u00c1lvarez V, S\u00e1nchez-Juan P, Pardo J, Jeric\u00f3 I, V\u00e1zquez-Costa J, Sevilla T, Cardona F, Indakoechea B, Moreno F, Fern\u00e1ndez-Torr\u00f3n R, Mu\u00f1oz-Llahuna L, Moreno-Grau S, Rosende-Roca M, Vela \u00c1, Mu\u00f1oz-Blanco JL, Combarros O, Coto E, Alcolea D, Fortea J, Lle\u00f3 A, S\u00e1nchez-Valle R, Esteban-P\u00e9rez J, Ruiz A, Pastor P, L\u00f3pez De Munain A, P\u00e9rez-Tur J, Clarim\u00f3n J, Dementia Genetics Spanish Consortium (DEGESCO)<\/div><div class=\"cnt_rev\">Brain<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2014<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24057670\">Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.<\/a><\/div><div class=\"cnt_autores\">Dols-Icardo O, Garc\u00eda-Redondo A, Rojas-Garc\u00eda R, S\u00e1nchez-Valle R, Noguera A, G\u00f3mez-Tortosa E, Pastor P, Hern\u00e1ndez I, Esteban-P\u00e9rez J, Su\u00e1rez-Calvet M, Ant\u00f3n-Aguirre S, Amer G, Ortega-Cubero S, Blesa R, Fortea J, Alcolea D, Capdevila A, Antonell A, Llad\u00f3 A, Mu\u00f1oz-Blanco JL, Mora JS, Gal\u00e1n-D\u00e1vila L, Rodr\u00edguez De Rivera FJ, Lle\u00f3 A, Clarim\u00f3n J<\/div><div class=\"cnt_rev\">Hum Mol Genet<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2013<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23540596\">Comprehensive care of amyotrophic lateral sclerosis patients: a care model.<\/a><\/div><div class=\"cnt_autores\">G\u00fcell MR, Ant\u00f3n A, Rojas-Garc\u00eda R, Puy C, Pradas J, en representaci\u00f3n de todo el grupo interdisciplinario<\/div><div class=\"cnt_rev\">Arch Bronconeumol<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23286747\">Amyotrophic lateral sclerosis in Catalonia: a population based study.<\/a><\/div><div class=\"cnt_autores\">Pradas J, Puig T, Rojas-Garc\u00eda R, Viguera ML, Gich I, Logroscino G, ALS-CAT Group<\/div><div class=\"cnt_rev\">Amyotroph Lateral Scler Frontotemporal Degener<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22936364\">Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.<\/a><\/div><div class=\"cnt_autores\">Garc\u00eda-Redondo A, Dols-Icardo O, Rojas-Garc\u00eda R, Esteban-P\u00e9rez J, Cordero-V\u00e1zquez P, Mu\u00f1oz-Blanco JL, Catalina I, Gonz\u00e1lez-Mu\u00f1oz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, L\u00f3pez de Munain A, M\u00e1rquez-Infante C, de Rivera FJ, Pastor P, Jeric\u00f3 I, de Arcaya A\u00c1, Mora JS, Clarim\u00f3n J, C9ORF72 Spanish Study Group, Gonzalo-Mart\u00ednez JF, Ju\u00e1rez-Rufi\u00e1n A, Atencia G, Jim\u00e9nez-Bautista R, Mor\u00e1n Y, Masc\u00edas J, Hern\u00e1ndez-Barral M, Kapetanovic S, Garc\u00eda-Barcina M, Alcal\u00e1 C, Vela A, Ram\u00edrez-Ramos C, Gal\u00e1n L, P\u00e9rez-Tur J, Quint\u00e1ns B, Sobrido MJ, Fern\u00e1ndez-Torr\u00f3n R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrod\u00e9 P, Capablo JL, Pascual-Calvet J, Go\u00f1i M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Mart\u00edn-Estefan\u00eda C, Cemill\u00e1n C, Blesa R, Lle\u00f3 A<\/div><div class=\"cnt_rev\">Hum Mutat<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2012<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22964832\">Investigation of c9orf72 in 4 neurodegenerative disorders.<\/a><\/div><div class=\"cnt_autores\">Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hern\u00e1ndez I, Ruiz A, Boada M, Mor\u00f3n FJ, Lang AE, Marras C, Bruni A, Colao R, Maletta RG, Puccio G, Rainero I, Pinessi L, Galimberti D, Morrison KE, Moorby C, Stockton JD, Masellis M, Black SE, Hazrati LN, Liang Y, van Haersma de With J, Fornazzari L, Villagra R, Rojas-Garcia R, Clarim\u00f3n J, Mayeux R, Robertson J, St George-Hyslop P, Rogaeva E<\/div><div class=\"cnt_rev\">Arch Neurol<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22271664\">A proposed staging system for amyotrophic lateral sclerosis.<\/a><\/div><div class=\"cnt_autores\">Roche JC, Rojas-Garcia R, Scott KM, Scotton W, Ellis CE, Burman R, Wijesekera L, Turner MR, Leigh PN, Shaw CE, Al-Chalabi A<\/div><div class=\"cnt_rev\">Brain<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22214355\">No evidence for a large difference in ALS frequency in populations of African and European origin: a population based study in inner city London.<\/a><\/div><div class=\"cnt_autores\">Rojas-Garcia R, Scott KM, Roche JC, Scotton W, Martin N, Janssen A, Goldstein LH, Leigh PN, Ellis CM, Shaw CE, Al-Chalabi A<\/div><div class=\"cnt_rev\">Amyotroph Lateral Scler<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2001<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/11485721\">[Antiganglioside antibodies: when, which and for what].<\/a><\/div><div class=\"cnt_autores\">Gallardo E, Rojas-Garc\u00eda R, Belv\u00eds R, Serrano-Munuera C, Ortiz E, Ortiz N, Grau J, Illa I<\/div><div class=\"cnt_rev\">Neurologia<\/div><\/div><\/div><\/div><\/div>\n<div id=\"gtx-trans\" style=\"position: absolute; left: -67px; top: 39.9688px;\">\n<div class=\"gtx-trans-icon\"><\/div>\n<\/div>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":320,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"100-width.php","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-457","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ 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