{"id":439,"date":"2025-03-27T06:19:08","date_gmt":"2025-03-27T05:19:08","guid":{"rendered":"https:\/\/www.neuromuscularbcn.org\/?page_id=439"},"modified":"2025-04-29T12:30:17","modified_gmt":"2025-04-29T10:30:17","slug":"historia-natural-marcadors-diagnostics-i-fisiopatologia-de-les-distrofies-musculars","status":"publish","type":"page","link":"https:\/\/www.neuromuscularbcn.org\/ca\/recerca\/distrofias-musculares-y-otras-miopatias\/historia-natural-marcadors-diagnostics-i-fisiopatologia-de-les-distrofies-musculars\/","title":{"rendered":"Hist\u00f2ria natural, marcadors diagn\u00f2stics i fisiopatologia de les distr\u00f2fies musculars"},"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-e0de3ec60b1fea0e526\" aria-selected=\"true\" id=\"fusion-tab-informaci\u00f3general\" href=\"#tab-e0de3ec60b1fea0e526\"><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-a1d57b39f3b140783f5\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-publicacions\" href=\"#tab-a1d57b39f3b140783f5\"><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-e0de3ec60b1fea0e526\">\n<h6>Informaci\u00f3 General<\/h6>\n<h5>Hist\u00f2ria natural de les disferlinopaties<\/h5>\n<p><img decoding=\"async\" class=\"size-full wp-image-2723 alignleft\" src=\"https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/jain.jpg\" alt=\"\" width=\"240\" height=\"154\" srcset=\"https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/jain-200x128.jpg 200w, https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/jain.jpg 240w\" sizes=\"(max-width: 240px) 100vw, 240px\" \/><\/p>\n<p>L\u2019Associaci\u00f3 de pacients JAIN Foundation, est\u00e0 finan\u00e7ant un estudi d\u2019investigaci\u00f3 centrat en con\u00e8ixer en detall les caracter\u00edstiques cl\u00edniques i radiol\u00f2giques d\u2019una gran cohort de pacients amb distr\u00f2fia muscular de cintures 2B produ\u00efdes per mutacions en el gen de la disferlina.<\/p>\n<p>Aquest \u00e9s un estudi observacional d\u2019hist\u00f2ria natural que es va iniciar a l\u2019any 2013. Els pacients es visiten de forma anual a l\u2019hospital a on realitzem una s\u00e8rie de proves: entrevista cl\u00ednica, exploraci\u00f3 f\u00edsica general, proves funcionals musculars, anal\u00edtica sangu\u00ednia, proves funcionals respirat\u00f2ries, ecocardiograma i resson\u00e0ncia magn\u00e8tica muscular.<\/p>\n<p>Hem incl\u00f2s 14 pacients del nostre centre. Tots ells han realitzat les proves sense problemes i el grau de satisfacci\u00f3 amb l\u2019estudi \u00e9s alt. Els pacients s\u00f3n seguits de for ma regular per la nostre unitat des de fa anys i havien participat en m\u00faltiples activitats d\u2019investigaci\u00f3 pr\u00e8viament, \u00e9s per aix\u00f2 que els hi volem agrair la seva disponibilitat per col\u00b7laborar amb la unitat.<\/p>\n<p>Recentment hem decidit allargar per un any l\u2019estudi d\u2019investigaci\u00f3, per la qual cosa alguns dels pacients participants seguiran amb les proves un any mes.<\/p>\n<h5>Marcadors moleculars de seguiment en distr\u00f2fies musculars<\/h5>\n<p>Estem realitzant una s\u00e8rie d\u2019estudis per detectar mol\u00e8cules sangu\u00ednies que puguin ser \u00fatils al seguiment de diverses distr\u00f2fies musculars. En els projectes relacionats amb aquesta l\u00ednia d\u2019investigaci\u00f3 volem incloure pacients afectats de diferents patologies del m\u00fascul com per exemple: distr\u00f2fia muscular de Duchenn, disferlinopatia i distr\u00f2fia facio-esc\u00e0pulo-humeral (FSH). El nostre objectiu \u00e9s trobar biomarcadors en s\u00e8rum o plasma que permetin realitzar un seguiment de la malaltia. Aquest marcadors poden ser \u00fatils per identificar pacients de risc de progressi\u00f3 r\u00e0pida i tamb\u00e9 en assajos cl\u00ednics, per tal de con\u00e8ixer si existeix una resposta a les ter\u00e0pies assajades. Volem veure si els nivells de determinades mol\u00e8cules correlacionen\u00a0 amb el resultat de les proves f\u00edsiques i amb el resultat de les resson\u00e0ncies magn\u00e8tiques.<\/p>\n<h5>Fisiopatologia de les distr\u00f2fies musculars<\/h5>\n<p><img decoding=\"async\" class=\" wp-image-2726 alignleft\" src=\"https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/fisiopatologia_musculo.jpg\" alt=\"\" width=\"306\" height=\"215\" srcset=\"https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/fisiopatologia_musculo-200x140.jpg 200w, https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/fisiopatologia_musculo-300x210.jpg 300w, https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/fisiopatologia_musculo.jpg 334w\" sizes=\"(max-width: 306px) 100vw, 306px\" \/><\/p>\n<p>Estem realitzant una s\u00e8rie d\u2019estudis observacionals en el laboratori de malalties neuromusculars amb la fi de con\u00e8ixer en m\u00e9s profunditat els mecanismes associats al proc\u00e9s de regeneraci\u00f3 i degeneraci\u00f3 muscular que tenen lloc a les distr\u00f2fies musculars.<\/p>\n<p>Hem estudiat en especial el paper de PDGF-BB en el proc\u00e9s de regeneraci\u00f3 muscular. Hem descobert el paper important que juga aquesta mol\u00e8cula en el proc\u00e9s de regeneraci\u00f3 especialment als pacients amb malaltia de Duchenne. PDGF-BB s\u2019expressa a les fibres musculars danyades dels pacients amb aquesta malaltia. De fet, lesions indu\u00efdes als m\u00fasculs de ratol\u00ed\u00a0<em>mdx<\/em>, un model mur\u00ed de distr\u00f2fia muscular de Duchenne, indueixen l\u2019alliberaci\u00f3 de PDGF-BB per fibres musculars. Mitjan\u00e7ant una s\u00e8rie d\u2019estudis\u00a0<em>in vitro<\/em>, hem observat que aquesta mol\u00e8cula augmenta la proliferaci\u00f3 i quemotaxis dels mioblastos, un tipus de c\u00e8l\u00b7lula mare encarregada de reparar fibres musculars. La injecci\u00f3 repetida dels m\u00fasculs esquel\u00e8tics amb PDGF-BB augmenta la regeneraci\u00f3 muscular, disminueix la inflamaci\u00f3 i augmenta el n\u00famero de c\u00e8l\u00b7lules sat\u00e8l\u00b7lit. Aquests resultats han estat publicats recentment a la revista American Journal of Pathology.<\/p>\n<p>En aquest moment estem estudiant les vies intracel\u00b7lulars que s\u2019activen als fibroblastos dels m\u00fasculs esquel\u00e8tics per la mol\u00e8cula PDGF-AA. Aquesta mol\u00e8cula, a difer\u00e8ncia de PDGF-BB, sembla tenir un paper clau en la fibrosis muscular. Estem tractant fibroblastos extrets de m\u00fascul esquel\u00e8tic de pacients amb Duchenne i de controls amb PDGF-AA. En una s\u00e8rie d\u2019estudis prote\u00f2mics i gen\u00f2mics, identificarem les vies de senyalitzaci\u00f3 intracel\u00b7lular activades per aquesta mol\u00e8cula. Creiem que aquests estudis permetran identificar noves dianes terap\u00e8utiques per les distr\u00f2fies musculars.<\/p>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-publicacions\" id=\"tab-a1d57b39f3b140783f5\">\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\">2026<\/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\/41997907\">Correction: Investigating the role of EGFR signalling in muscle dystrophies: implications for Duchenne muscular dystrophy.<\/a><\/div><div class=\"cnt_autores\">Fern\u00e1ndez-Sim\u00f3n E, Tejedera-Villafranca A, Fern\u00e1ndez-Garabay X, Clark J, Monceau A, Villalobos E, Cox D, Azc\u00f3n JR, Fern\u00e1ndez-Costa JM, Diaz-Manera J<\/div><div class=\"cnt_rev\">Cell Death Dis<\/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\/41760395\">Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.<\/a><\/div><div class=\"cnt_autores\">Riguzzi P, Grover E, Schiava M, James MK, Diaz-Manera J, Tasca G, Bourke J, Borland H, Moat D, Elseed M, Michell-Sodhi J, Bola\u00f1o-D\u00edaz C, Wong K, Barreto Haagsma A, Robinson E, Reeves T, Waldock P, Harris E, McCallum M, Gadaleta G, Pegoraro E, Bello L, Messer B, Muni-Lofra R, Straub V, Marini Bettolo C, Guglieri M<\/div><div class=\"cnt_rev\">J Neurol Neurosurg Psychiatry<\/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\/41934478\">Brachio-cervical inflammatory myopathy: multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosis.<\/a><\/div><div class=\"cnt_autores\">Kleefeld F, Teran Gamboa J, Pinal-Fernandez I, Preusse C, Nelke C, Goebel HH, Mensch A, Mossakowski A, Miah MU, Diaz-Manera J, Torchia E, Bortolani S, Hentschel A, Funke A, Souvannanorath S, Authier FJ, Malfatti E, Gehrig J, Mammen AL, Casal-Dominguez M, De Winter J, De Ridder W, Ruck T, Schneider U, Roos A, Gallardo E, Tasca G, Stenzel W<\/div><div class=\"cnt_rev\">Acta Neuropathol<\/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\/41705041\">Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders.<\/a><\/div><div class=\"cnt_autores\">Wong KSW, Sen A, Michell-Sodhi J, Moat D, McCallum M, Richardson M, Harris E, Mayhew AG, Guglieri M, Grover E, Diaz-Manera J, Robinson E, Elseed M, Mason J, Geagan C, James MK, Straub V, Marini-Bettolo C, Muni-Lofra R<\/div><div class=\"cnt_rev\">Neurol Clin Pract<\/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\/41851078\">Impact of C4BPA on Muscle progenitor cell differentiation: insights for Duchenne muscular dystrophy treatment.<\/a><\/div><div class=\"cnt_autores\">Fern\u00e1ndez-Sim\u00f3n E, Tejedera-Villafranca A, Fern\u00e1ndez-Garabay X, Clark J, Katsikis P, Mehra P, Galloway A, Monceau A, Villalobos E, Cox D, Ram\u00f3n-Azc\u00f3n J, Fern\u00e1ndez-Costa JM, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Cell Death Dis<\/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\/41803906\">Gait analysis reveals new outcome measures for monitoring disease progression in individuals with late-onset Pompe disease.<\/a><\/div><div class=\"cnt_autores\">Claramunt-Molet M, Pegueroles J, Pi-Cervera A, Rico M, Idelsohn-Zielonka S, Dom\u00ednguez-Gonz\u00e1lez C, Corti M, Ant\u00f3n V, Salabarria SM, Wong K, James MK, Byrne BJ, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">J Neuroeng Rehabil<\/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\/41638029\">Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.<\/a><\/div><div class=\"cnt_autores\">Dom\u00ednguez-Gonz\u00e1lez C, Iannucci D, Clark J, Mart\u00edn-Jim\u00e9nez P, Hold S, Oliva P, Bischinger A, Gallardo E, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Neuromuscul Disord<\/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\/41453611\">Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.<\/a><\/div><div class=\"cnt_autores\">Dom\u00ednguez-Gonz\u00e1lez C, Barba Romero M\u00c1, Caballero Eraso C, de Las Heras J, Farrero Mu\u00f1oz E, Garc\u00eda-Campos \u00d3, Gonz\u00e1lez M, Grau JM, Hern\u00e1ndez-Voth A, Juntas Morales R, Le\u00f3n Hern\u00e1ndez JC, Ley Martos M, L\u00f3pez-Padilla D, Muelas N, Nascimento A, Oliv\u00e9 M, Paradas C, Pardo Fern\u00e1ndez J, Pascual SI, Pitarch I, Sancho J, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Neurologia (Engl Ed)<\/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\/41549703\">Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement.<\/a><\/div><div class=\"cnt_autores\">Torchia E, Lucchini M, Verdu-Diaz J, Bortolani S, Ravera B, Carlomagno V, Cicia A, Bernardo D, Monforte M, Rehmann R, Kley RA, Sabatelli M, D\u00edaz-Manera J, Ricci E, Mirabella M, Tasca G<\/div><div class=\"cnt_rev\">J Cachexia Sarcopenia Muscle<\/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\/41513629\">Investigating the role of EGFR signalling in muscle dystrophies: implications for Duchenne muscular dystrophy.<\/a><\/div><div class=\"cnt_autores\">Fern\u00e1ndez-Sim\u00f3n E, Tejedera-Villafranca A, Fern\u00e1ndez-Garabay X, Clark J, Monceau A, Villalobos E, Cox D, Azc\u00f3n JR, Fern\u00e1ndez-Costa JM, Diaz-Manera J<\/div><div class=\"cnt_rev\">Cell Death Dis<\/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\/41503480\">Evaluation of a serum protein signature as monitoring biomarker for Duchenne Muscular Dystrophy in a long-term clinical trial with corticosteroids.<\/a><\/div><div class=\"cnt_autores\">Degan C, Tobin RA, de Vries SI, Jim\u00e9nez-Requena A, Peco A, Guglieri M, Diaz-Manera J, van der Burgt YEM, Vlijmen BJM, FOR-DMD investigators of the Muscle Study Group, Hathout Y, Szigyarto CA, Dang UJ, Tsonaka R, Spitali P<\/div><div class=\"cnt_rev\">medRxiv<\/div><\/div><\/div><\/div><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\/41406961\">Distinct components of mRNA vaccines cooperate to instruct efficient germinal center responses.<\/a><\/div><div class=\"cnt_autores\">Casta\u00f1o D, Bettini E, Kumar B, Chudnovskiy A, Siv A, Protti G, Nakadakari-Higa S, Ceglia S, De Luna N, Chiu JE, Lederer K, Li SH, Ibrahim H, Muramatsu H, Mdluli T, Abraham E, Sahingur SE, Maillard I, Tam YK, Shin S, Hensley SE, Miner JJ, Lipinszki Z, Reboldi A, Pardi N, Spreafico R, Victora GD, Locci M<\/div><div class=\"cnt_rev\">Cell<\/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\/41450529\">Diagnosis, management and monitoring of patients with Pompe disease in the UK.<\/a><\/div><div class=\"cnt_autores\">D\u00edaz-Manera J, Broomfield A, Davison J, Deegan P, Gould R, Geberhiwot T, James MK, Lilleker JB, Sharma R<\/div><div class=\"cnt_rev\">BMJ Neurol Open<\/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\/41427421\">Multimodal analysis defines GNG4 as a distinguishing feature of germinal center-positioned CD4 T follicular helper cells in humans.<\/a><\/div><div class=\"cnt_autores\">Dubensky SB, Zhu Y, Gallagher M, Kumashie KG, Lu T, Tedesco J, De Luna N, Premo K, Qi Y, Rachimi S, Cabrera EC, Fulmer B, Meremikwu IC, Carter A, Henrickson SE, Romberg N, Baxter AE, Oldridge DA, Vella LA<\/div><div class=\"cnt_rev\">bioRxiv<\/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\/41185938\">Silicon-based nanopillars: a novel platform for tissue applications.<\/a><\/div><div class=\"cnt_autores\">Piergallini C, D\u00edaz-Valdivia N, Dey\u00e0 A, Fern\u00e1ndez-Nogueira P, Singh R, Bertelsen CV, Svendsen WE, Corominas M, Gombau L, Sanz-Fraile H, Reguart N, Romano-Rodriguez A, Serras F, de Luna N, Alcaraz J, Oll\u00e9-Monge M<\/div><div class=\"cnt_rev\">Biomater Sci<\/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\/41181282\">Motor Function in Limb-Girdle Muscular Dystrophy R1\/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness.<\/a><\/div><div class=\"cnt_autores\">James MK, Iammarino MA, Reash NF, Steiner CL, Knight AB, Smith MA, Moat D, Michell-Sodhi J, Wong KSW, Grover E, Robinson EJ, Mayhew AG, Eagle M, Elseed M, Guglieri M, Straub V, Marini-Bettolo C, Muni-Lofra R, Diaz-Manera J, Lowes LP, Alfano LN<\/div><div 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KD, Weihl CC, Wicklund M, Hung M, Statland J, Johnson NE, GRASP-LGMD Consortium<\/div><div class=\"cnt_rev\">BMC 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\/38336890\">Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration.<\/a><\/div><div class=\"cnt_autores\">Pi\u00f1ol-Jurado P, Verd\u00fa-D\u00edaz J, Fern\u00e1ndez-Sim\u00f3n E, Dom\u00ednguez-Gonz\u00e1lez C, Hern\u00e1ndez-Lain A, Lawless C, Vincent A, Gonz\u00e1lez-Chamorro A, Villalobos E, Monceau A, Laidler Z, Mehra P, Clark J, Filby A, McDonald D, Rushton P, Bowey A, Alonso P\u00e9rez J, Tasca G, Marini-Bettolo C, Guglieri M, Straub V, Su\u00e1rez-Calvet X, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Sci Rep<\/div><\/div><\/div> <div 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class=\"cnt_rev\">Neurology<\/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\/37440793\">Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories.<\/a><\/div><div class=\"cnt_autores\">Muni-Lofra R, Juanola-Mayos E, Schiava M, Moat D, Elseed M, Michel-Sodhi J, Harris E, McCallum M, Moore U, Richardson M, Trainor C, Wong K, Malinova M, Bolano-Diaz C, Keogh MJ, Ghimenton E, Verdu-Diaz J, Mayhew A, Guglieri M, Straub V, James MK, Marini-Bettolo C, Diaz-Manera J<\/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\/37317968\">Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4\/2E.<\/a><\/div><div class=\"cnt_autores\">Li C, Wilborn J, Pittman S, Daw J, Alonso-P\u00e9rez J, D\u00edaz-Manera J, Weihl CC, Haller G<\/div><div class=\"cnt_rev\">J Clin Invest<\/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\/37036722\">Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.<\/a><\/div><div class=\"cnt_autores\">Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, 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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\/37250646\">Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease.<\/a><\/div><div class=\"cnt_autores\">Valero-Tena E, Roca-Espiau M, Verd\u00fa-D\u00edaz J, Diaz-Manera J, Andrade-Campos M, Giraldo P<\/div><div class=\"cnt_rev\">Front Med (Lausanne)<\/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\/37027481\">Human T follicular helper clones seed the germinal center-resident regulatory pool.<\/a><\/div><div class=\"cnt_autores\">Le Coz C, Oldridge DA, Herati RS, De Luna N, Garifallou J, Cruz Cabrera E, Belman JP, Pueschl D, Silva LV, Knox AVC, Reid W, Yoon S, Zur KB, Handler 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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\/36893608\">A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.<\/a><\/div><div class=\"cnt_autores\">Segarra-Casas A, Collet R, Gonzalez-Quereda L, Vesperinas A, Caballero-\u00c1vila M, Carbayo A, D\u00edaz-Manera J, Rodriguez MJ, Gallardo E, Gallano P, Oliv\u00e9 M<\/div><div class=\"cnt_rev\">Neuromuscul Disord<\/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\/36753800\">Patient reported pregnancy and birth outcomes in genetic neuromuscular diseases.<\/a><\/div><div class=\"cnt_autores\">Moore U, Emmons SS, Rufibach L, Straub V, Diaz-Manera J, Guglieri M<\/div><div class=\"cnt_rev\">Neuromuscul Disord<\/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\/36706619\">Impact of restricted access to, and low awareness of, mexiletine on people with myotonia: a real-world European survey.<\/a><\/div><div class=\"cnt_autores\">D\u00edaz-Manera J, Urtizberea JA, Schey C, Kole A, von Gallwitz P, Whiting A, Foerster D, Zozulya-Weidenfeller A<\/div><div class=\"cnt_rev\">Neuromuscul Disord<\/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\/36689846\">Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.<\/a><\/div><div class=\"cnt_autores\">Moore U, Fern\u00e1ndez-Sim\u00f3n E, Schiava M, Cox D, Gordish-Dressman H, James MK, Mayhew A, Wilson I, Guglieri M, Rufibach L, Blamire A, Carlier PG, Mori-Yoshimura M, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Bravver E, Pegoraro E, Mendell JR, Bushby K, Diaz-Manera J, Straub V, Jain COS Consortium<\/div><div class=\"cnt_rev\">Neuromuscul Disord<\/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\/36329184\">Muscle MRI in immune-mediated necrotizing myopathy\u00a0(IMNM): implications for clinical management and treatment strategies.<\/a><\/div><div class=\"cnt_autores\">Fionda L, Lauletta A, Leonardi L, Perez JA, Morino S, Merlonghi G, Alfieri G, Costanzo R, Tufano L, Vanoli F, Rossini E, Vigo EG, Tartaglione T, Salvetti M, Antonini G, Diaz-Manera J, Garibaldi M<\/div><div class=\"cnt_rev\">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\/36685855\">Mesoangioblasts at 20: From the embryonic aorta to the patient bed.<\/a><\/div><div class=\"cnt_autores\">Cossu G, Tonlorenzi R, Brunelli S, Sampaolesi M, Messina G, Azzoni E, Benedetti S, Biressi S, Bonfanti C, Bragg L, Camps J, Cappellari O, Cassano M, Ciceri F, Coletta M, Covarello D, Crippa S, Cusella-De Angelis MG, De Angelis L, Dellavalle A, Diaz-Manera J, Galli D, Galli F, Gargioli C, Gerli MFM, Giacomazzi G, Galvez BG, Hoshiya H, Guttinger M, Innocenzi A, Minasi MG, Perani L, Previtali SC, Quattrocelli M, Ragazzi M, Roostalu U, Rossi G, Scardigli R, Sirabella D, Tedesco FS, Torrente Y, Ugarte G<\/div><div class=\"cnt_rev\">Front 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\/36369218\">265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22-24 April 2022, Hoofddorp, The Netherlands.<\/a><\/div><div class=\"cnt_autores\">Monforte M, Attarian S, Vissing J, Diaz-Manera J, Tasca G, 265th ENMC workshop participants<\/div><div class=\"cnt_rev\">Neuromuscul Disord<\/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\/36536827\">Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management.<\/a><\/div><div class=\"cnt_autores\">Bolano-Diaz C, Diaz-Manera J<\/div><div class=\"cnt_rev\">Ther Clin Risk Manag<\/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\/36471448\">Survey on the management of Pompe disease in routine clinical practice in Spain.<\/a><\/div><div class=\"cnt_autores\">Dom\u00ednguez-Gonz\u00e1lez C, D\u00edaz-Mar\u00edn C, Juntas-Morales R, Nascimiento-Osorio A, Rivera-Gallego A, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Orphanet J Rare Dis<\/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\/36058852\">Water T2 could predict functional decline in patients with dysferlinopathy.<\/a><\/div><div class=\"cnt_autores\">Moore U, Caldas de Almeida Ara\u00fajo E, Reyngoudt H, Gordish-Dressman H, Smith FE, Wilson I, James M, Mayhew A, Rufibach L, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Mendell JR, Jain COS Consortium, Bushby K, Blamire AM, Straub V, Carlier PG, Diaz-Manera J<\/div><div class=\"cnt_rev\">J Cachexia Sarcopenia Muscle<\/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\/35897138\">Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.<\/a><\/div><div class=\"cnt_autores\">Poyatos-Garc\u00eda J, Mart\u00ed P, Liquori A, Muelas N, Pitarch I, Martinez-Dolz L, Rodr\u00edguez B, Gonzalez-Quereda L, Dami\u00e1 M, Aller E, Selva-Gimenez M, Vilchez R, Diaz-Manera J, Alonso-P\u00e9rez J, Barcena JE, Jauregui A, G\u00e1mez J, Aladr\u00e9n JA, Fern\u00e1ndez A, Montolio M, Azorin I, Hervas D, Casas\u00fas A, Nieto M, Gallano P, Sevilla T, Vilchez JJ<\/div><div class=\"cnt_rev\">Ann 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\/36289891\">Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice.<\/a><\/div><div class=\"cnt_autores\">Alonso-P\u00e9rez J, Carrasco-Rozas A, Borrell-Pages M, Fern\u00e1ndez-Sim\u00f3n E, Pi\u00f1ol-Jurado P, Badimon L, Wollin L, Lleix\u00e0 C, Gallardo E, Oliv\u00e9 M, D\u00edaz-Manera J, Su\u00e1rez-Calvet X<\/div><div class=\"cnt_rev\">Biomedicines<\/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\/35853747\">Muscle MRI in McArdle Disease: A European Multicenter Observational Study.<\/a><\/div><div class=\"cnt_autores\">L\u00f8kken N, Revsbech KL, Jacobsen LN, Martinuzzi A, Martin M\u00c1, D\u00edaz-Manera J, Dominguez-Gonzalez C, Brondani G, Musumeci O, Granata F, Stefan C, Merino-Sanchez C, Peralta CN, Khawajazada T, Alonso-P\u00e9rez J, Toscano A, Vissing J<\/div><div class=\"cnt_rev\">Neurology<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div 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A, Paradas C, Rivas E, Illa I, Oliv\u00e9 M, Gallardo E, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Am J Pathol<\/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\/35428982\">Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.<\/a><\/div><div class=\"cnt_autores\">Statland JM, Campbell C, Desai U, Karam C, D\u00edaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM<\/div><div class=\"cnt_rev\">Muscle Nerve<\/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\/35286480\">Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.<\/a><\/div><div class=\"cnt_autores\">Dom\u00ednguez-Gonz\u00e1lez C, Fern\u00e1ndez-Torr\u00f3n R, Moore U, de Fuenmayor-Fern\u00e1ndez de la Hoz CP, V\u00e9lez-G\u00f3mez B, Cabezas JA, Alonso-P\u00e9rez J, Gonz\u00e1lez-Mera L, Oliv\u00e9 M, Garc\u00eda-Garc\u00eda J, Moris G, Le\u00f3n Hern\u00e1ndez JC, Muelas N, Servian-Morilla E, Martin MA, D\u00edaz-Manera J, Paradas C<\/div><div class=\"cnt_rev\">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\/35740394\">An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.<\/a><\/div><div class=\"cnt_autores\">Koehorst E, Odria R, Cap\u00f3 J, N\u00fa\u00f1ez-Manch\u00f3n J, Arbex A, Almendrote M, Linares-Pardo I, Natera-de Benito D, Saez V, Nascimento A, Ortez C, Rubio M\u00c1, D\u00edaz-Manera J, Alonso-P\u00e9rez J, Lucente G, Rodriguez-Palmero A, Ramos-Fransi A, Mart\u00ednez-Pi\u00f1eiro A, Nogales-Gadea G, Suelves M<\/div><div class=\"cnt_rev\">Biomedicines<\/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\/35373496\">Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy.<\/a><\/div><div class=\"cnt_autores\">Reyngoudt H, Smith FE, Caldas de Almeida Ara\u00fajo E, Wilson I, Fern\u00e1ndez-Torr\u00f3n R, James MK, Moore UR, D\u00edaz-Manera J, Marty B, Azzabou N, Gordish H, Rufibach L, Hodgson T, Wallace D, Ward L, Boisserie JM, Le Lou\u00ebr J, Hilsden H, Sutherland H, Canal A, Hogrel JY, Jacobs M, Stojkovic T, Bushby K, Mayhew A, Jain Clinical Outcome Study for Dysferlinopathy consortium, Straub V, Carlier PG, Blamire AM<\/div><div class=\"cnt_rev\">J Cachexia Sarcopenia Muscle<\/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\/35569879\">Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.<\/a><\/div><div class=\"cnt_autores\">Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, Gonz\u00e1lez JR, Grinberg D, Guitart M, Laurie S, L\u00e1zaro C, Luengo C, Mart\u00ed R, Mil\u00e0 M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, P\u00e9rez-Jurado LA, Beltran S, Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium<\/div><div class=\"cnt_rev\">J Mol Diagn<\/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\/35179231\">Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.<\/a><\/div><div class=\"cnt_autores\">Moore U, Fernandez-Torron R, Jacobs M, Gordish-Dressman H, Diaz-Manera J, James MK, Mayhew AG, Harris E, Guglieri M, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Jain COS Consortium, Bourke J, Straub V<\/div><div class=\"cnt_rev\">Muscle Nerve<\/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\/35174518\">High prevalence of paraspinal muscle involvement in adults with McArdle disease.<\/a><\/div><div class=\"cnt_autores\">\u00c1lvarez-Velasco R, Nu\u00f1ez-Peralta CA, Alonso-P\u00e9rez J, Gallardo E, Collet-Vidiella R, Reyes-Leiva D, Pascual-Go\u00f1i E, Mart\u00edn-Aguilar L, Caballero-\u00c1vila M, Carbayo-Viejo \u00c1, Llauger-Rosell\u00f3 J, D\u00edaz-Manera J, Oliv\u00e9 M<\/div><div class=\"cnt_rev\">Muscle Nerve<\/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\/35112761\">Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands.<\/a><\/div><div class=\"cnt_autores\">Alonso-P\u00e9rez J, de Le\u00f3n Hern\u00e1ndez JC, P\u00e9rez-P\u00e9rez H, Mendoza-Grim\u00f3n MD, Gutierrez-Martinez AJ, Hadjigeorgiou I, Mont\u00f3n-\u00c1lvarez F, Gonz\u00e1lez-Quereda L, Alonso-Jimenez A, Su\u00e1rez-Calvet X, D\u00edaz-Manera J<\/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\/34515763\">Clinical and genetic spectrum of a large cohort of patients with \u03b4-sarcoglycan muscular dystrophy.<\/a><\/div><div class=\"cnt_autores\">Alonso-P\u00e9rez J, Gonz\u00e1lez-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, V\u00edlchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Su\u00e1rez-Calvet X, T\u00f6pf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, D\u00edaz-Manera J<\/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\/35132805\">RhoA\/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells: implications for Duchenne muscular dystrophy.<\/a><\/div><div class=\"cnt_autores\">Fern\u00e1ndez-Sim\u00f3n E, Su\u00e1rez-Calvet X, Carrasco-Rozas A, Pi\u00f1ol-Jurado P, L\u00f3pez-Fern\u00e1ndez S, Pons G, Bech Serra JJ, de la Torre C, de Luna N, Gallardo E, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">J Cachexia Sarcopenia Muscle<\/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\/35359643\">Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.<\/a><\/div><div class=\"cnt_autores\">Mayhew AG, James MK, Moore U, Sutherland H, Jacobs M, Feng J, Lowes LP, Alfano LN, Muni Lofra R, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa-Hern\u00e1ndez I, Holsten S, Sakamoto C, Canal A, S\u00e1nchez-Aguilera Pr\u00e1xedes N, Thiele S, Siener C, Vandevelde B, DeWolf B, Maron E, Gordish-Dressman H, Hilsden H, Guglieri M, Hogrel JY, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, D\u00edaz-Manera J, Pegoraro E, Mendell JR, Straub V<\/div><div class=\"cnt_rev\">Front 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\/34753219\">Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials.<\/a><\/div><div class=\"cnt_autores\">Garibaldi M, Nicoletti T, Bucci E, Fionda L, Leonardi L, Morino S, Tufano L, Alfieri G, Lauletta A, Merlonghi G, Perna A, Rossi S, Ricci E, Alonso Perez J, Tartaglione T, Petrucci A, Pennisi EM, Salvetti M, Cutter G, D\u00edaz-Manera J, Silvestri G, Antonini G<\/div><div class=\"cnt_rev\">Eur J 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\/34728497\">Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.<\/a><\/div><div class=\"cnt_autores\">Mart\u00edn-Aguilar L, Lleix\u00e0 C, Pascual-Go\u00f1i E, Caballero-\u00c1vila M, Mart\u00ednez-Mart\u00ednez L, D\u00edaz-Manera J, Rojas-Garc\u00eda R, Cort\u00e9s-Vicente E, Turon-Sans J, de Luna N, Su\u00e1rez-Calvet X, Gallardo E, Rajabally Y, Scotton S, Jacobs BC, Baars A, Cortese A, Vegezzi E, H\u00f6ftberger R, Zimprich F, Roesler C, Nobile-Orazio E, Liberatore G, Hiew FL, Mart\u00ednez-Pi\u00f1eiro A, Carvajal A, Pi\u00f1ar-Morales R, Us\u00f3n-Mart\u00edn M, Albert\u00ed O, L\u00f3pez-P\u00e9rez M\u00c1, M\u00e1rquez F, 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Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B, COMET Investigator Group<\/div><div class=\"cnt_rev\">Lancet 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\/34676531\">[Fifteen years of enzyme therapy in Pompe disease].<\/a><\/div><div class=\"cnt_autores\">D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Rev 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\/34323296\">Prevalence of sarcopenia after remission of hypercortisolism and its impact on HRQoL.<\/a><\/div><div class=\"cnt_autores\">Martel-Duguech L, Alonso-Jimenez A, Bascu\u00f1ana H, D\u00edaz-Manera J, Llauger J, Nu\u00f1ez-Peralta C, Montesinos P, Webb SM, Valassi E<\/div><div class=\"cnt_rev\">Clin Endocrinol (Oxf)<\/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\/34680984\">The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.<\/a><\/div><div class=\"cnt_autores\">Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, G\u00f3mez B, MITOSPAIN Working Group, Mart\u00edn MA, Montoya J, Artuch R<\/div><div class=\"cnt_rev\">Genes (Basel)<\/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\/34426054\">TREAT-NMD stakeholder meeting for natural history studies in limb 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class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34449780\">STEM undergraduates' perspectives of instructor and university responses to the COVID-19 pandemic in Spring 2020.<\/a><\/div><div class=\"cnt_autores\">Pagoto S, Lewis KA, Groshon L, Palmer L, Waring ME, Workman D, De Luna N, Brown NP<\/div><div class=\"cnt_rev\">PLoS One<\/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\/34210542\">Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.<\/a><\/div><div class=\"cnt_autores\">Alonso-P\u00e9rez J, Casas\u00fas A, Gimenez-Mu\u00f1oz \u00c1, Duff J, Rojas-Garcia R, Illa I, Straub V, T\u00f6pf A, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Neuromuscul Disord<\/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\/34326809\">Corrigendum: Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests.<\/a><\/div><div class=\"cnt_autores\">Nu\u00f1ez-Peralta C, Montesinos P, Alonso-Jim\u00e9nez A, Alonso-P\u00e9rez J, Reyes-Leiva D, S\u00e1nchez-Gonz\u00e1lez J, Llauger-Rosell\u00f3 J, Segovia S, Belmonte I, Pedrosa I, Mart\u00ednez-Noguera A, Matellini-Mosca B, Walter G, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Front 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 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B<\/div><div class=\"cnt_rev\">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\/34177765\">Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies.<\/a><\/div><div class=\"cnt_autores\">Alonso-Jim\u00e9nez A, Fern\u00e1ndez-Sim\u00f3n E, Natera-de Benito D, Ortez C, Garc\u00eda C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Pi\u00f1ol-Jurado P, Carrasco-Rozas A, Su\u00e1rez-Calvet X, Jimenez-Mallebrera C, Nascimento A, Llauger J, Nu\u00f1ez-Peralta C, Montesinos P, Alonso-P\u00e9rez J, Gallardo E, Illa I, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Front 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\/33950861\">Intramuscular fatty infiltration and physical function in controlled acromegaly.<\/a><\/div><div class=\"cnt_autores\">Martel-Duguech L, Alonso-P\u00e9rez J, Bascu\u00f1ana H, D\u00edaz-Manera J, Llauger J, Nu\u00f1ez-Peralta C, Montesinos P, Webb SM, Valassi E<\/div><div class=\"cnt_rev\">Eur J Endocrinol<\/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\/33576057\">Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.<\/a><\/div><div class=\"cnt_autores\">Jacobs MB, James MK, Lowes LP, Alfano LN, Eagle M, Muni Lofra R, Moore U, Feng J, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa-Hern\u00e1ndez I, Holsten S, Sakamoto C, Canal 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sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33610434\">Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.<\/a><\/div><div class=\"cnt_autores\">Moore U, Gordish H, Diaz-Manera J, James MK, Mayhew AG, Guglieri M, Fernandez-Torron R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V, Jain COS Consortium<\/div><div class=\"cnt_rev\">Neuromuscul Disord<\/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\/33796064\">Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates 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expressed proteins in the muscle of dysferlin myopathy patients.<\/a><\/div><div class=\"cnt_autores\">De la Torre C, Illa I, Faulkner G, Soria L, Robles-Cede\u00f1o R, Dominguez-Perles R, De Luna N, Gallardo E<\/div><div class=\"cnt_rev\">Proteomics Clin Appl<\/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\/19084402\">A new phenotype of dysferlinopathy with congenital onset.<\/a><\/div><div class=\"cnt_autores\">Paradas C, Gonz\u00e1lez-Quereda L, De Luna N, Gallardo E, Garc\u00eda-Consuegra I, G\u00f3mez H, Cabello A, Illa I, Gallano P<\/div><div class=\"cnt_rev\">Neuromuscul Disord<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2008<\/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\/18717722\">Blood pressure is not associated with haematoma enlargement in acute intracerebral haemorrhage.<\/a><\/div><div class=\"cnt_autores\">Mart\u00ed-F\u00e0bregas J, Mart\u00ednez-Ram\u00edrez S, Mart\u00ednez-Corral M, D\u00edaz-Manera J, Querol L, Su\u00e1rez-Calvet M, de Juan M, Santal\u00f3 M, Mar\u00edn R, Mart\u00ed-Vilalta JL<\/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\/18337152\">Efficacy of botulinum toxin in severe Tourette syndrome with dystonic tics involving the neck.<\/a><\/div><div class=\"cnt_autores\">Aguirregomozcorta M, Pagonabarraga J, Diaz-Manera J, Pascual-Sedano B, Gironell A, Kulisevsky J<\/div><div class=\"cnt_rev\">Parkinsonism Relat Disord<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2007<\/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\/17287450\">Symptomatic dysferlin gene mutation carriers: characterization of two cases.<\/a><\/div><div class=\"cnt_autores\">Illa I, De Luna N, Dom\u00ednguez-Perles R, Rojas-Garc\u00eda R, Paradas C, Palmer J, M\u00e1rquez C, Gallano P, Gallardo E<\/div><div class=\"cnt_rev\">Neurology<\/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\/17114877\">Frequency and predictors of symptomatic intracerebral hemorrhage in patients with ischemic stroke treated with recombinant tissue plasminogen activator outside clinical trials.<\/a><\/div><div class=\"cnt_autores\">Mart\u00ed-F\u00e0bregas J, Bravo Y, Cocho D, Mart\u00ed-Vilalta JL, D\u00edaz-Manera J, San Rom\u00e1n L, Puig M, Blanco M, Castellanos M, Mill\u00e1n M, Roquer J, Obach V, Maestre J<\/div><div class=\"cnt_rev\">Cerebrovasc Dis<\/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\/17070050\">Dysferlin expression in monocytes: a source of mRNA for mutation analysis.<\/a><\/div><div class=\"cnt_autores\">De Luna N, Freixas A, Gallano P, Caselles L, Rojas-Garc\u00eda R, Paradas C, Nogales G, Dominguez-Perles R, Gonzalez-Quereda L, V\u00edlchez JJ, M\u00e1rquez C, Bautista J, Guerrero A, Salazar JA, Pou A, Illa I, Gallardo E<\/div><div class=\"cnt_rev\">Neuromuscul Disord<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2006<\/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\/16707165\">A novel antiganglioside specificity against terminal NeuNAc(alfa 2-3)Gal in acute bulbar palsy.<\/a><\/div><div class=\"cnt_autores\">Rojas-Garcia R, Martinez-Lage M, Gallardo E, de Luna N, Marti-Vilalta JL, Diaz-Manera J, Juarez C, Blesa R, Illa I<\/div><div class=\"cnt_rev\">J Neuroimmunol<\/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\/16608842\">Absence of dysferlin alters myogenin expression and delays human muscle differentiation \"in vitro\".<\/a><\/div><div class=\"cnt_autores\">de Luna N, Gallardo E, Soriano M, Dominguez-Perles R, de la Torre C, Rojas-Garc\u00eda R, Garc\u00eda-Verdugo JM, Illa I<\/div><div class=\"cnt_rev\">J Biol Chem<\/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\/16497981\">Pretreatment hemostatic markers of symptomatic intracerebral hemorrhage in patients treated with tissue plasminogen activator.<\/a><\/div><div class=\"cnt_autores\">Cocho D, Borrell M, Mart\u00ed-F\u00e0bregas J, Montaner J, Castellanos M, Bravo Y, Molina-Porcel L, Belv\u00eds R, D\u00edaz-Manera JA, Mart\u00ednez-Dome\u00f1o A, Mart\u00ednez-Lage M, Mill\u00e1n M, Fontcuberta J, Mart\u00ed-Vilalta JL<\/div><div class=\"cnt_rev\">Stroke<\/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\/16534209\">Does thrombolysis benefit patients with lacunar syndrome?<\/a><\/div><div class=\"cnt_autores\">Cocho D, Belv\u00eds R, Mart\u00ed-F\u00e0bregas J, Bravo Y, Aleu A, Pagonabarraga J, Molina-Porcel L, D\u00edaz-Manera J, San Roman L, Mart\u00ednez-Lage M, Mart\u00ednez A, Moreno M, Mart\u00ed-Vilalta JL<\/div><div class=\"cnt_rev\">Eur Neurol<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2005<\/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\/16087899\">Hemostatic markers of recanalization in patients with ischemic stroke treated with rt-PA.<\/a><\/div><div class=\"cnt_autores\">Mart\u00ed-F\u00e0bregas J, Borrell M, Cocho D, Belv\u00eds R, Castellanos M, Montaner J, Pagonabarraga J, Aleu A, Molina-Porcel L, D\u00edaz-Manera J, Bravo Y, Alvarez-Sab\u00edn J, D\u00e1valos A, Fontcuberta J, Mart\u00ed-Vilalta JL<\/div><div class=\"cnt_rev\">Neurology<\/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\/16087766\">Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.<\/a><\/div><div class=\"cnt_autores\">Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-Garc\u00eda R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I<\/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\/15880484\">X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization.<\/a><\/div><div class=\"cnt_autores\">Paradas C, M\u00e1rquez C, Gallardo E, De Luna N, Chinch\u00f3n I, Recan D, Jim\u00e9nez MD, Illa I<\/div><div class=\"cnt_rev\">Muscle Nerve<\/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\/15728300\">Reasons for exclusion from thrombolytic therapy following acute ischemic stroke.<\/a><\/div><div class=\"cnt_autores\">Cocho D, Belv\u00eds R, Mart\u00ed-F\u00e0bregas J, Molina-Porcel L, D\u00edaz-Manera J, Aleu A, Pagonabarraga J, Garc\u00eda-Bargo D, Mauri A, Mart\u00ed-Vilalta JL<\/div><div class=\"cnt_rev\">Neurology<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2004<\/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\/15535137\">In vivo and in vitro dysferlin expression in human muscle satellite cells.<\/a><\/div><div class=\"cnt_autores\">De Luna N, Gallardo E, Illa I<\/div><div class=\"cnt_rev\">J Neuropathol Exp 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\/15073403\">Favorable outcome of ischemic stroke in patients pretreated with statins.<\/a><\/div><div class=\"cnt_autores\">Mart\u00ed-F\u00e0bregas J, Gomis M, Arboix A, Aleu A, Pagonabarraga J, Belv\u00eds R, Cocho D, Roquer J, Rodr\u00edguez A, Garc\u00eda MD, Molina-Porcel L, D\u00edaz-Manera J, Mart\u00ed-Vilalta JL<\/div><div class=\"cnt_rev\">Stroke<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2002<\/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\/11782994\">A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy.<\/a><\/div><div class=\"cnt_autores\">Ho M, Gallardo E, McKenna-Yasek D, De Luna N, Illa I, Brown RH Jr<\/div><div class=\"cnt_rev\">Ann Neurol<\/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\/11739845\">Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.<\/a><\/div><div class=\"cnt_autores\">Gallardo E, Rojas-Garc\u00eda R, de Luna N, Pou A, Brown RH Jr, Illa I<\/div><div class=\"cnt_rev\">Neurology<\/div><\/div><\/div><\/div><\/div>\n<div id=\"gtx-trans\" style=\"position: absolute; left: -98px; 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":316,"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-439","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\/ -->\n<title>Hist\u00f2ria natural, marcadors diagn\u00f2stics i fisiopatologia de les distr\u00f2fies musculars - Neuromuscular BCN<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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