{"id":443,"date":"2025-03-27T06:19:35","date_gmt":"2025-03-27T05:19:35","guid":{"rendered":"https:\/\/www.neuromuscularbcn.org\/?page_id=443"},"modified":"2025-04-29T12:36:59","modified_gmt":"2025-04-29T10:36:59","slug":"terapia-en-distrofies-musculars","status":"publish","type":"page","link":"https:\/\/www.neuromuscularbcn.org\/ca\/recerca\/distrofias-musculares-y-otras-miopatias\/terapia-en-distrofies-musculars\/","title":{"rendered":"Ter\u00e0pia en 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-8d73bf4795acf8770b7\" aria-selected=\"true\" id=\"fusion-tab-informaci\u00f3general\" href=\"#tab-8d73bf4795acf8770b7\"><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-b18b05ca12ef9748708\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-publicacions\" href=\"#tab-b18b05ca12ef9748708\"><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-8d73bf4795acf8770b7\">\n<h6>Informaci\u00f3 General<\/h6>\n<h5 id=\"tit_anclaje0\" class=\"anclaje_btn_cab\">Ter\u00e0pia en Distr\u00f2fia Muscular de Duchenne<\/h5>\n<p><img decoding=\"async\" class=\"wp-image-2731 alignleft\" src=\"https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/terapia-en-Duchenne-1.jpg\" alt=\"\" width=\"276\" height=\"225\" \/><\/p>\n<p>Es tracta d\u2019un estudi intervencional terap\u00e8utic en un model precl\u00ednic de distr\u00f2fia muscular de Duchenne. Hem realitzat un estudi amb Nintedanib, un f\u00e0rmac amb una activitat antitirosina-cinasa en un model mur\u00ed mdx de distr\u00f2fia muscular de Duchenne. Nintedanib \u00e9s un f\u00e0rmac que bloqueja els receptors de PDGF-AA, PDGF-BB, VEGF i bFGF. Aquest tractament ha estat aprovat recentment per la fibrosis pulmonar idiop\u00e0tica i est\u00e0 en fase d\u2019assaig en esclerod\u00e8rmia. Nosaltres hem decidit utilitzar-lo en models de distr\u00f2fia muscular per la evid\u00e8ncia recent de que PDFG-AA \u00e9s un factor associat al proc\u00e9s de fibrosis muscular. De fet, gr\u00e0cies a aquest estudi hem pogut identificar que PDGF-AA \u00e9s un factor clau en la proliferaci\u00f3 i quimiotaxis dels fibroblasts obtinguts de bi\u00f2psies musculars in vitro. PDGF-AA estimula l\u2019expressi\u00f3 de col\u00b7l\u00e0gen I per part d\u2019aquestes c\u00e8l\u00b7lules in vitro. B-FGF \u00e9s clau en la proliferaci\u00f3 de mioblasts o miotubs.<\/p>\n<p>A una segona fase, hem vist com Nintedanib redueix la proliferaci\u00f3 i quimiotaxis dels fibroblasts in vitro. Aquest f\u00e0rmac produeix canvis en l\u2019expressi\u00f3 g\u00e8nica dels fibroblasts en cultiu. S\u2019ha determinat una clara reducci\u00f3 en l\u2019expressi\u00f3 de col\u00b7l\u00e0gen I i III i de fibronectina in vitro. A m\u00e9s, el f\u00e0rmac produeix una reducci\u00f3 de l\u2019expressi\u00f3 de factors de creixement profibr\u00f2tics per part dels fibroblasts, com s\u00f3n PDGF-AA, CTGF o TGF-beta.<\/p>\n<p>Finalment, hem tractat un grup de ratolins mdx amb Nintedanib durant 4 setmanes. Hem detectat una millora funcional en l\u2019amplitud dels potencials motors evocats utilitzant t\u00e8cniques d\u2019electromiografia. Els estudis histol\u00f2gics han demostrat una reducci\u00f3 dels infiltrats inflamatoris i un descens de l\u2019\u00e0rea de teixit fibr\u00f2tic present a les bi\u00f2psies. Els estudis d\u2019expressi\u00f3 g\u00e8nica han mostrat una reducci\u00f3 en l\u2019expressi\u00f3 dels gens de col\u00b7lagen I i III i dels factors de creixement probibr\u00f2tic PDGF-AA, TGF-beta i CTGF. Aquests resultats s\u2019han confirmat mitjan\u00e7ant WB mostrant reducci\u00f3 de les prote\u00efnes codificades per aquests gens.<\/p>\n<h5 id=\"tit_anclaje1\" class=\"anclaje_btn_cab\">Ter\u00e0pia en disferlinopaties<\/h5>\n<p>La disferlina \u00e9s una prote\u00efna transmembrana implicada en la reparaci\u00f3 del sarcolema de les fibres musculars. Les disferlinopaties estan causades per mutacions en el gen DYSF i poden causar un grup heterogeni de malalties autos\u00f2miques recessives, com la distr\u00f2fia muscular de cintures 2B (\u00e9s la segona distr\u00f2fia de cintures m\u00e9s freq\u00fcent a Espanya), la miopatia de Miyoshi i la miopatia distal del compartiment anterior. Encara no s\u2019ha trobat un tractament efectiu per a aquesta malaltia.<\/p>\n<p>Les prote\u00efnes generades pels gens mutats s\u00f3n reconegudes per la c\u00e8l\u00b7lula com an\u00f2males i s\u00f3n destru\u00efdes per uns mecanismes concrets (proteasoma).<\/p>\n<p>No obstant aix\u00f2, algunes d\u2019aquestes mutacions donen lloc a prote\u00efnes que, encara que s\u00f3n an\u00f2males, conserven part de la seva funci\u00f3 per\u00f2 que s\u00f3n degradades igualment. Els nostres estudis pretenen demostrar que si aconseguim evitar la destrucci\u00f3 de les prote\u00efnes que conserven una mica de funci\u00f3 podr\u00edem observar una millora a llarg termini dels s\u00edmptomes cl\u00ednics.<\/p>\n<p>En les bi\u00f2psies musculars d\u2019aquests pacients s\u2019ha descrit la pres\u00e8ncia d\u2019inflamaci\u00f3, principalment de c\u00e8l\u00b7lules T CD4 + i macr\u00f2fags. A m\u00e9s, l\u2019abs\u00e8ncia de disferlina produeix una reparaci\u00f3 de membrana deficient que pot resultar en l\u2019alliberament de alarmines end\u00f2genes produint-se un augment de l\u2019assenyalament via TLR4, receptor que las seva expressi\u00f3 pot estar incrementada en el m\u00fascul esquel\u00e8tic d\u2019aquests pacients. El nostre estudi est\u00e0 destinat a disminuir la senyalitzaci\u00f3 de l\u2019inflamasoma en pacients amb disferlinopat\u00eda. Per a aix\u00f2 s\u2019estudiaran potencials lligands de TLR4, aix\u00ed com l\u2019expressi\u00f3 de missatgers secundaris en c\u00e8l\u00b7lules deficients en disferlina que activarien la immunitat innata. L\u2019estudi i identificaci\u00f3 dels components de la via de senyalitzaci\u00f3 implicada en la resposta inflamat\u00f2ria observada en les disferlinopaties, ens permetr\u00e0 avaluar l\u2019efic\u00e0cia de diferents tractaments farmacol\u00f2gics, destinats a disminuir la inflamaci\u00f3. Tamb\u00e9 avaluarem altres f\u00e0rmacs destinats a incrementar l\u2019expressi\u00f3 de disferlina.<\/p>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-publicacions\" id=\"tab-b18b05ca12ef9748708\">\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\/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\/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\/41631150\">Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials.<\/a><\/div><div class=\"cnt_autores\">Andersen H, D\u00edaz-Manera J, Goker-Alpan O, Mozaffar T, Sitaraman Das S, Fox B, Amon F, O'Brien-Prince K, Goldman M, Holdbrook F, Jain V, Byrne BJ<\/div><div class=\"cnt_rev\">Ther Adv 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\/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\/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\/41151001\">Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.<\/a><\/div><div class=\"cnt_autores\">Straub V, Clause AR, Donkervoort S, Kang PB, Laverty CG, Niu Z, Wicklund MP, B\u00f6nnemann CG, Cooper ST, D\u00edaz-Manera J, Johnson NE, Narayanaswami P, Vissing J, Walter MC, Craige C, Weihl CC<\/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\/41238663\">Circulating protein biomarkers identified in two independent clinical trial cohorts of glucocorticoid-naive Duchenne muscular dystrophy patients.<\/a><\/div><div class=\"cnt_autores\">Ahmadiharchegani F, Tobin RA, Degan C, Naveed A, Guglieri M, Jim\u00e9nez-Requena A, de Vries SI, Szigyarto CA, Spitali P, Tsonaka R, van der Burgt YEM, Diaz-Manera J, VBP15-004 investigators, CINRG DNHS investigators, FOR-DMD investigators of the Muscle Study Group, Clemens PR, Hoffman EP, Dang UJ, Hathout Y<\/div><div class=\"cnt_rev\">Sci Rep<\/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\/40997622\">282nd ENMC international workshop - standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands.<\/a><\/div><div class=\"cnt_autores\">Iammarino MA, Alonso-P\u00e9rez J, Stojkovic T, Pegoraro E, Lowes L, D\u00edaz-Manera J, 282nd ENMC workshop study group<\/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\/40799512\">Efficacy of Switching Therapy From Alglucosidase Alfa to Avalglucosidase Alfa on Respiratory Function in Participants With Late-Onset Pompe Disease: A Post Hoc Analysis From the COMET Trial.<\/a><\/div><div class=\"cnt_autores\">Kishnani PS, Boentert M, Wenninger S, Berger KI, Msihid J, O'Callaghan L, Essadi-Addou R, Gallego V, Rawat NS, Huynh-Ba O, Diaz-Manera J<\/div><div class=\"cnt_rev\">JIMD Rep<\/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\/40814795\">High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.<\/a><\/div><div class=\"cnt_autores\">White Z, Rufibach L, Dressman HG, Hilsden H, Cox D, 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, Diaz-Manera J, Pegoraro E, Mendell JR, Jain COS Consortium, Straub V, Bernatchez P<\/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\/40678441\">Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.<\/a><\/div><div class=\"cnt_autores\">Schiava M, Parkhurst Y, Henderson M, Polvikoski T, Valtcheva MV, Nishino I, Inoue M, Nishimori Y, Saito Y, Stojkovic T, Villar-Quiles RN, Romero NB, Evangelista T, Malfatti E, Souvannanorath S, Pegoraro E, Riguzzi P, Monforte M, Bortolani S, Torchia E, Sabatelli M, Tasca G, Straub V, Marini-Bettolo C, Guglieri M, Cetin H, Gelpi E, Klotz S, De Bleecker JL, Alonso-Jimenez A, Baets J, De Ridder W, De Jonghe P, Claeys KG, Thal DR, Bevilacqua JA, Luo S, Zhu W, Lin J, Papadimas G, Papadopoulos C, Zamba-Papanicolaou E, Xirou S, Pal E, Rodolico C, Kostera-Pruszczyk A, Kierdaszuk B, Kaminska A, Muelas N, Vilchez JJ, Dom\u00ednguez-Gonz\u00e1lez C, Hernandez-Lain A, Alonso-Perez J, Nedkova-Hristova V, Aledo C, Oldfors A, Badrising UA, Kushlaf H, Lloyd TE, Ikenaga C, Alfano LN, Quinn CC, Walk D, Vorgerd M, Weihl C, Oliv\u00e9 M, Diaz-Manera J, VCP International Study Group<\/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\/40342075\">Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL.<\/a><\/div><div class=\"cnt_autores\">Kushlaf H, D\u00edaz-Manera J, Bratkovic D, Byrne BJ, Claeys KG, Clemens PR, Dimachkie MM, Kishnani PS, Lafor\u00eat P, Roberts M, Schoser B, Toscano A, Castelli J, Holdbrook F, Sitaraman Das S, Goldman M, Mozaffar T, PROPEL Study Group<\/div><div class=\"cnt_rev\">Muscle 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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, 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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\/15989843\">[\"Seronegative\" myasthenia gravis and antiMuSK positive antibodies: description of Spanish series].<\/a><\/div><div class=\"cnt_autores\">Illa I, D\u00edaz-Manera JA, Ju\u00e1rez C, Rojas-Garc\u00eda R, Molina-Porcel L, Aleu A, Pradas J, Gallardo E<\/div><div class=\"cnt_rev\">Med Clin (Barc)<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2003<\/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\/14510907\">Neuromuscular dysfunction in adult growth hormone deficiency.<\/a><\/div><div class=\"cnt_autores\">Webb SM, de Andr\u00e9s-Aguayo I, Rojas-Garc\u00eda R, Ortega E, Gallardo E, Mestr\u00f3n A, Serrano-Munuera C, Casamitjana R, Illa I<\/div><div class=\"cnt_rev\">Clin Endocrinol (Oxf)<\/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\/11438771\">Chronic idiopathic sensory ataxic neuropathy: immunological aspects of a series of 17 patients.<\/a><\/div><div class=\"cnt_autores\">Illa I, Rojas R, Gallardo E, Serrano C, Graus F<\/div><div class=\"cnt_rev\">Rev Neurol (Paris)<\/div><\/div><\/div><\/div><\/div>\n<div id=\"gtx-trans\" style=\"position: absolute; left: -26px; top: -1.03125px;\">\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":1,"comment_status":"closed","ping_status":"closed","template":"100-width.php","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-443","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - 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