{"id":448,"date":"2025-03-27T06:20:00","date_gmt":"2025-03-27T05:20:00","guid":{"rendered":"https:\/\/www.neuromuscularbcn.org\/?page_id=448"},"modified":"2025-04-29T12:41:41","modified_gmt":"2025-04-29T10:41:41","slug":"glucogenosis","status":"publish","type":"page","link":"https:\/\/www.neuromuscularbcn.org\/ca\/recerca\/distrofias-musculares-y-otras-miopatias\/glucogenosis\/","title":{"rendered":"Glucogenosis"},"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-5fa4f838f088897d1c9\" aria-selected=\"true\" id=\"fusion-tab-informaci\u00f3general\" href=\"#tab-5fa4f838f088897d1c9\"><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-86b4509b917bebf5df4\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-publicacions\" href=\"#tab-86b4509b917bebf5df4\"><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-5fa4f838f088897d1c9\">\n<h6>Informaci\u00f3 General<\/h6>\n<h5 id=\"tit_anclaje0\" class=\"anclaje_btn_cab\">Malaltia de pompe<\/h5>\n<p>La malaltia de Pompe malaltia \u00e9s un miopatia heredit\u00e0ria causada per mutacions en el gen de l\u2019alfa-glucosidasa, tamb\u00e9 conegut com maltasa \u00e0cida. Aquest enzim \u00e9s responsable de metabolitzar glicogen a l\u2019interior dels lisosomes en els teixits del cos hum\u00e0, incloent-hi el m\u00fascul esquel\u00e8tic o el cor. En els pacients amb abs\u00e8ncia d\u2019aquest enzim, el glicogen s\u2019acumula gradualment a l\u2019interior dels lisosomes impedint el funcionament normal d\u2019aquests org\u00e0nuls. Segons avan\u00e7a la malaltia, les c\u00e8l\u00b7lules s\u2019omplen amb lisosomes amb glicogen no metabolitzat i de detritus cel.lulars, que condueix a la disfunci\u00f3 de les c\u00e8l\u00b7lules i la mort de les mateixes.<\/p>\n<p>La malaltia de Pompe pot tenir un inici de la primera inf\u00e0ncia o debutar m\u00e9s tard en la infantesa, adolesc\u00e8ncia o l\u2019edat adulta. Els nens amb la forma cl\u00e0ssica infantil tenen debilitat muscular que es presenta ja en els primers mesos de vida i que cursa amb hipotonia, dificultat en moviment dels bra\u00e7os i de les cames, dificultat per empassar i respirar, problemes a causa de la debilitat de la musculatura respirat\u00f2ria. Sovint desenvolupen una hipertr\u00f2fia de miocardi que era la causa de mort en la majoria dels casos abans del descobriment de la ter\u00e0pia de substituci\u00f3 (ERT) enzim. Les formes de l\u2019adult s\u00f3n m\u00e9s heterogenies des del punt de vista cl\u00ednic i poden debutar com hiperck\u00e8mies a\u00efllades o amb debilitat de m\u00fasculs proximals de cintura lentament progressiu i est\u00e0 acompanyat de trastorn respiratori freq\u00fcentment.<\/p>\n<p>L\u2019ERT \u00e9s el tractament acceptar per a la malaltia de Pompe. Aquest tractament ha demostrat millorar les alteracions card\u00edaques i motores dels pacients amb Pompe infantil i els par\u00e0metres funcionals motors i respiratoris de pacients amb malaltia de Pompe adults. El seguiment a llarg termini dels pacients tractats es realitza amb \u00a0estudis funcionals motors i respiratoris, encara que seria ideal poder comptar amb nous marcadors biol\u00f2gics i de imatge que ens ajudessin a comprendre l\u2019evoluci\u00f3 dels pacients.<\/p>\n<p>El nostre grup t\u00e9 en el moment actual temps dues l\u00ednies de recerca complement\u00e0ries en la malaltia de Pompe:<\/p>\n<ol>\n<li><strong>Utilitat de resson\u00e0ncia magn\u00e8tica quantitatives en el seguiment de la malaltia de Pompe<\/strong>: estem duent a terme un estudi de seguiment de pacients amb malaltia de Pompe adults. En aquest estudi 36 pacients seran visitats anualment a la nostra unitat realitzant una entrevista cl\u00ednica, proves f\u00edsiques motores, proves respirat\u00f2ries, an\u00e0lisi de sang i resson\u00e0ncia magn\u00e8tica. La resson\u00e0ncia inclou t\u00e8cniques quantitatives que permeten revelar la taxa de progressi\u00f3 del dip\u00f2sit de greix en els m\u00fasculs malalts.<\/li>\n<li><strong>Estudi d\u2019expressi\u00f3 de micro-RNAs en sang de pacients amb malaltia de Pompe adults<\/strong><u>:<\/u>\u00a0estem duent a terme un estudi de caracteritzaci\u00f3 de microRNAs en sang dels pacients reclutats en l\u2019estudi de la RM muscular (punt 1). En una primera part indentificarem microRNAs que s\u2019incrementen en la sang dels pacients per intentar trobar biomarcadors espec\u00edfics de la malaltia. En paral\u00b7lel hem correlacionarem aquestes dades amb els resultats d\u2019estudis radiol\u00f2gics i motors per veure si els microRNAs identificats son \u00fatils per fer el seguiment de la malaltia.<\/li>\n<\/ol>\n<h5 id=\"tit_anclaje1\" class=\"anclaje_btn_cab\">Malaltia de McArdle<\/h5>\n<p><span id=\"result_box\" class=\"\" lang=\"ca\">La malaltia de McArdle \u00e9s una miopatia autos\u00f2mica recessiva causada per mutacions en el gen de l\u2019glicogen fosforilasa muscular (PYGM) generant un d\u00e8ficit del enzim miofosforilasa. Els pacients pateixen crisis agudes de \u201cintoler\u00e0ncia a l\u2019exercici\u201d, freq\u00fcentment acompanyades de rabdomi\u00f2lisi, hiper-CK-emia i mioglobinuria. En l\u2019actualitat no existeix un tractament curatiu.<\/span><\/p>\n<p>El present projecte es centra principalment en dos punts: 1) avaluar l\u2019efic\u00e0cia terap\u00e8utica de 151 compostos amb activitat epigen\u00e8tica mitjan\u00e7ant la inducci\u00f3 de l\u2019expressi\u00f3 de Pygb i \/ o Pygl en cultius cel\u00b7lulars de m\u00fascul esquel\u00e8tic i 2) consolidar i actualitzar el registre europeu de pacients de McArdle i altres glucogenosi minorit\u00e0ries \u201cEUROMAC\u201d<\/p>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-publicacions\" id=\"tab-86b4509b917bebf5df4\">\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\/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><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\/41218118\">FZD7 expression marks mammary tumor-initiating cells.<\/a><\/div><div class=\"cnt_autores\">Wu CCN, De Luna N, Hairston E, Jeffs ED, Key A, Adams SR, Advani SJ, Gaasterland T, Carson DA, Willert K<\/div><div class=\"cnt_rev\">Proc Natl Acad Sci U S A<\/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\/40550975\">Tailoring the adjuvanticity of lipid nanoparticles by PEG lipid ratio and phospholipid modifications.<\/a><\/div><div class=\"cnt_autores\">Vadovics M, Zhao W, Daley EF, Lam K, Daly O, Rashid K, Lee HR, Schreiner P, Lundgreen KA, Gaudette BT, Shuvaev VV, Arguiri E, Muramatsu H, S\u00e1rk\u00f6zy A, Mdluli T, Xu J, Han X, De Luna N, Casta\u00f1o D, Bettini E, \u00c1brah\u00e1m E, Lipinszki Z, Carlucci G, Bansode AH, Nguyen K, Le TM, Luu T, Muzykantov VR, Bates P, Allman D, Mitchell MJ, Locci M, Radu CG, Heyes J, Pardi N<\/div><div class=\"cnt_rev\">Nat Nanotechnol<\/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\/40817977\">Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.<\/a><\/div><div class=\"cnt_autores\">Kishnani PS, D\u00edaz-Manera J, Illarioshkin S, van der Ploeg AT, Clemens PR, Day JW, Toscano A, Kushlaf H, Ladha S, Attarian S, Carvalho G, Kostera-Pruszczyk A, Erdem-\u00d6zdamar S, Goker-Alpan O, Mozaffar T, Straub V, Roberts M, Haack KA, Huynh-Ba O, Tammireddy S, Periquet M, Thibault N, Zhou T, Dimachkie MM, Schoser B, COMET Investigator Group<\/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\/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 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\/39787886\">Corrigendum to \"Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials\" [Molecular Genetics and Metabolism, 143 (2024) 108608].<\/a><\/div><div class=\"cnt_autores\">D\u00edaz-Manera J, Hughes D, Erdem-\u00d6zdamar S, Tard C, B\u00e9hin A, Bouhour F, Davison J, Hahn SH, Haack KA, Huynh-Ba O, Periquet M, Tammireddy S, Thibault N, Zhou T, van der Ploeg AT<\/div><div class=\"cnt_rev\">Mol Genet Metab<\/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\/39953542\">Real-world evidence for Pompe disease remains fragmented. Comment on \"A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem\" by Klein et al.<\/a><\/div><div class=\"cnt_autores\">Kruijshaar ME, House T, Schoser B, Lafor\u00eat P, Theunissen MTM, Wenninger S, Hundsberger T, Diaz-Manera J, van der Ploeg AT, van der Beek NAME<\/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\/39775064\">Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease.<\/a><\/div><div class=\"cnt_autores\">Schoser B, Attarian S, Graham R, Holdbrook F, Goldman M, D\u00edaz-Manera J, ATB200-03 study group<\/div><div class=\"cnt_rev\">J Neurol<\/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\/39045638\">Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.<\/a><\/div><div class=\"cnt_autores\">Monceau A, Nath RG, Su\u00e1rez-Calvet X, Musumeci O, Toscano A, Kierdaszuk B, Kostera-Pruszczyk A, Dom\u00ednguez-Gonz\u00e1lez C, Hern\u00e1ndez-Lain A, Paradas C, Rivas E, Papadimas G, Papadopoulos C, Chrysanthou-Piterou M, Gallardo E, Oliv\u00e9 M, Lilleker J, Roberts ME, Marchese D, Lunazzi G, Heyn H, Fern\u00e1ndez-Sim\u00f3n E, Villalobos E, Clark J, Katsikis P, Collins C, Mehra P, Laidler Z, Vincent A, Tasca G, Marini-Bettolo C, Guglieri M, Straub V, Raben N, 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\/39566417\">Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials.<\/a><\/div><div class=\"cnt_autores\">D\u00edaz-Manera J, Hughes D, Erdem-\u00d6zdamar S, Tard C, B\u00e9hin A, Bouhour F, Davison J, Hahn SH, Haack KA, Huynh-Ba O, Periquet M, Tammireddy S, Thibault N, Zhou T, van der Ploeg AT<\/div><div class=\"cnt_rev\">Mol Genet Metab<\/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\/39205420\">Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.<\/a><\/div><div class=\"cnt_autores\">van Kooten HA, Horton MC, Wenninger S, Baba\u010di\u0107 H, Schoser B, Lefeuvre C, Taouagh N, Lafor\u00eat P, Segovia S, D\u00edaz-Manera J, Claeys KG, Mongini T, Musumeci O, Toscano A, Hundsberger T, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME, European Pompe Consortium study group on outcome measures<\/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\/39535661\">Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.<\/a><\/div><div class=\"cnt_autores\">Kishnani PS, Byrne BJ, Claeys KG, D\u00edaz-Manera J, Dimachkie MM, Kushlaf H, Mozaffar T, Roberts M, Schoser B, Hummel N, Kopiec A, Holdbrook F, Shohet S, Toscano A, PROPEL Study Group<\/div><div class=\"cnt_rev\">J Patient Rep Outcomes<\/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\/38873957\">Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.<\/a><\/div><div class=\"cnt_autores\">Schoser B, van der Beek NAME, Broomfield A, Brusse E, Diaz-Manera J, Hahn A, Hundsberger T, Kornblum C, Kruijshaar M, Laforet P, Mengel E, Mongini T, Orlikowski D, Parenti G, 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href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37336766\">Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease.<\/a><\/div><div class=\"cnt_autores\">Mackenbach MJ, Willemse EAJ, van den Dorpel JJA, van der Beek NAME, D\u00edaz-Manera J, Rizopoulos D, Teunissen C, van der Ploeg AT, van den Hout JMP<\/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\/37235682\">IgA deficiency destabilizes homeostasis toward intestinal microbes and increases systemic immune dysregulation.<\/a><\/div><div class=\"cnt_autores\">Conrey PE, Denu L, O'Boyle KC, Rozich I, Green J, Maslanka J, Lubin JB, Duranova T, Haltzman BL, Gianchetti L, Oldridge DA, De Luna N, Vella LA, Allman D, Spergel JM, Tanes C, Bittinger K, Henrickson SE, Silverman MA<\/div><div class=\"cnt_rev\">Sci Immunol<\/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 SD, Hakonarson H, Wherry EJ, Gonzalez M, Romberg N<\/div><div class=\"cnt_rev\">Sci Immunol<\/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 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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\/31253477\">Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.<\/a><\/div><div class=\"cnt_autores\">Alonso-P\u00e9rez J, Segovia S, Dom\u00ednguez-Gonz\u00e1lez C, Oliv\u00e9 M, Mendoza Grim\u00f3n MD, Fern\u00e1ndez-Torr\u00f3n R, L\u00f3pez de Munain A, Mu\u00f1oz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Med Clin (Barc)<\/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\/31848135\">Absence of p.R50X Pygm read-through in McArdle disease cellular models.<\/a><\/div><div class=\"cnt_autores\">Tarras\u00f3 G, Real-Martinez A, Par\u00e9s M, Romero-Cortadellas L, Puigros L, Moya L, de Luna N, Brull A, Mart\u00edn MA, Arenas J, Lucia A, Andreu AL, Barquinero J, Vissing J, Krag TO, Pin\u00f3s T<\/div><div class=\"cnt_rev\">Dis Model Mech<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2019<\/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\/31378569\">Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.<\/a><\/div><div class=\"cnt_autores\">Fern\u00e1ndez-Sim\u00f3n E, Carrasco-Rozas A, Gallardo E, Gonz\u00e1lez-Quereda L, Alonso-P\u00e9rez J, Belmonte I, Pedrosa-Hern\u00e1ndez I, Montiel E, Segovia S, Su\u00e1rez-Calvet X, Llauger J, Mayos M, Illa I, Barba-Romero MA, Barcena J, Paradas C, Carzorla MR, Creus C, Coll-Cant\u00ed J, D\u00edaz M, Dom\u00ednguez C, Fern\u00e1ndez-Torr\u00f3n R, Garc\u00eda-Antelo MJ, Grau JM, L\u00f3pez de Mun\u00e1in A, Mart\u00ednez-Garc\u00eda FA, Morgado Y, Moreno A, Mor\u00eds G, Mu\u00f1oz-Blanco MA, Nascimento A, Paraju\u00e1-Pozo JL, Querol L, Rojas R, Robledo-Strauss A, Rojas-Marcos \u00cd, Salazar JA, Us\u00f3n M, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Mol Genet Metab<\/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\/31353854\">Identification of serum microRNAs as potential biomarkers in Pompe disease.<\/a><\/div><div class=\"cnt_autores\">Carrasco-Rozas A, Fern\u00e1ndez-Sim\u00f3n E, Lleix\u00e0 MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nu\u00f1ez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I, Pompe Spanish Study group, D\u00edaz-Manera J, Gallardo E<\/div><div class=\"cnt_rev\">Ann Clin Transl 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\/30914683\">Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.<\/a><\/div><div class=\"cnt_autores\">Real-Martinez A, Brull A, Huerta J, Tarras\u00f3 G, Lucia A, Martin MA, Arenas J, Andreu AL, Nogales-Gadea G, Vissing J, Krag TO, de Luna N, Pin\u00f3s T<\/div><div class=\"cnt_rev\">Sci Rep<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div 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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\/30022036\">Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.<\/a><\/div><div class=\"cnt_autores\">Figueroa-Bonaparte S, Llauger J, Segovia S, Belmonte I, Pedrosa I, Montiel E, Montesinos P, S\u00e1nchez-Gonz\u00e1lez J, Alonso-Jim\u00e9nez A, Gallardo E, Illa I, Spanish Pompe group, D\u00edaz-Manera J<\/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\/29482911\">Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants - Response.<\/a><\/div><div class=\"cnt_autores\">Scarpelli M, Carre\u00f1o-Gago L, Russignan A, de Luna N, Carnicer-C\u00e1ceres C, Ariatti LA, Verriello GD, Tonin P, Garcia-Arumi E, Pin\u00f3s T<\/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\/29174468\">Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.<\/a><\/div><div class=\"cnt_autores\">Scarpelli M, Carre\u00f1o-Gago L, Russignan A, de Luna N, Carnicer-C\u00e1ceres C, Ariatti A, Verriello L, Devigili G, Tonin P, Garcia-Arumi E, Pin\u00f3s T<\/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\">2017<\/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\/28819164\">Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis.<\/a><\/div><div class=\"cnt_autores\">De Luna N, Su\u00e1rez-Calvet X, Lleix\u00e0 C, Diaz-Manera J, Oliv\u00e9 M, Illa I, Gallardo E<\/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\/28738907\">RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis.<\/a><\/div><div class=\"cnt_autores\">Su\u00e1rez-Calvet X, Gallardo E, Pinal-Fernandez I, De Luna N, Lleix\u00e0 C, D\u00edaz-Manera J, Rojas-Garc\u00eda R, Castellv\u00ed I, Mart\u00ednez MA, Grau JM, Selva-O'Callaghan A, Illa I<\/div><div class=\"cnt_rev\">Arthritis Res Ther<\/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\/28477382\">European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.<\/a><\/div><div class=\"cnt_autores\">van der Ploeg AT, Kruijshaar ME, Toscano A, Lafor\u00eat P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, R\u00f6sler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B, European Pompe Consortium<\/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\">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\/27711114\">Muscle MRI Findings in Childhood\/Adult Onset Pompe Disease Correlate with Muscle Function.<\/a><\/div><div class=\"cnt_autores\">Figueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, Mayos M, Su\u00e1rez-Cuart\u00edn G, Gallardo E, Illa I, D\u00edaz-Manera J, Spanish Pompe Study Group<\/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\/27004974\">Long-Term Restoration of Thymidine Phosphorylase 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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\/25998610\">Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.<\/a><\/div><div class=\"cnt_autores\">Guti\u00e9rrez-Rivas E, Bautista J, V\u00edlchez JJ, Muelas N, D\u00edaz-Manera J, Illa I, Mart\u00ednez-Arroyo A, Oliv\u00e9 M, Sanz I, Arpa J, Fern\u00e1ndez-Torr\u00f3n R, L\u00f3pez de Mun\u00e1in A, Jim\u00e9nez L, Solera J, Lukacs Z<\/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\/25914343\">McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.<\/a><\/div><div class=\"cnt_autores\">Nogales-Gadea G, Brull A, Santalla A, Andreu AL, Arenas J, Mart\u00edn MA, Lucia A, de Luna N, Pin\u00f3s T<\/div><div class=\"cnt_rev\">Hum Mutat<\/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\/25873271\">Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.<\/a><\/div><div class=\"cnt_autores\">Brull A, de Luna N, Blanco-Grau A, Lucia A, Martin MA, Arenas J, Mart\u00ed R, Andreu AL, Pin\u00f3s T<\/div><div class=\"cnt_rev\">J Physiol<\/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\/25762569\">Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.<\/a><\/div><div class=\"cnt_autores\">de Luna N, Brull A, Guiu JM, Lucia A, Martin MA, Arenas J, Mart\u00ed R, Andreu AL, Pin\u00f3s T<\/div><div class=\"cnt_rev\">Dis Model Mech<\/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\/25806482\">[Guidelines for monitoring late-onset Pompe disease.Sociedad Espa\u00f1ola de Medicina Interna (SEMI), Sociedad Espa\u00f1ola de Neurolog\u00eda (SEN) y Sociedad Espa\u00f1ola de Neumolog\u00eda y Cirug\u00edaTor\u00e1cica (SEPAR)].<\/a><\/div><div class=\"cnt_autores\">Guti\u00e9rrez-Rivas E, Illa I, Pascual-Pascual SI, P\u00e9rez-L\u00f3pez J, V\u00edlchez-Padilla JJ, Bautista-Lorite J, Barrot E, L\u00f3pez de Munain A, Sociedad Espa\u00f1ola de Medicina Interna, Sociedad Espa\u00f1ola de Neurolog\u00eda, Sociedad Espa\u00f1ola de Neumolog\u00eda y Cirug\u00edaTor\u00e1cica<\/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\/25053163\">The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.<\/a><\/div><div class=\"cnt_autores\">Nogales-Gadea G, Santalla A, Brull A, de Luna N, Lucia A, Pin\u00f3s T<\/div><div class=\"cnt_rev\">J Inherit Metab 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\/27858636\">Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.<\/a><\/div><div class=\"cnt_autores\">Guti\u00e9rrez-Rivas E, Bautista J, V\u00edlchez JJ, Muelas N, D\u00edaz-Manera J, Illa I, Mart\u00ednez-Arroyo A, Oliv\u00e9 M, Sanz I, Arpa J, Fern\u00e1ndez-Torr\u00f3n R, L\u00f3pez de Mun\u00e1in A, Jim\u00e9nez L, Solera J, Lukacs Z<\/div><div class=\"cnt_rev\">J Neuromuscul Dis<\/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\/25240406\">PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?<\/a><\/div><div class=\"cnt_autores\">de Luna N, Brull A, Lucia A, Santalla A, Garatachea N, Mart\u00ed R, Andreu AL, Pin\u00f3s T<\/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\/25028051\">McArdle disease: a unique study model in sports medicine.<\/a><\/div><div class=\"cnt_autores\">Santalla A, Nogales-Gadea G, \u00d8rtenblad N, Brull A, de Luna N, Pin\u00f3s T, Lucia A<\/div><div class=\"cnt_rev\">Sports Med<\/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\/22847756\">The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo.<\/a><\/div><div class=\"cnt_autores\">D\u00edaz-Manera J, Gallardo E, de Luna N, Navas M, Soria L, Garibaldi M, Rojas-Garc\u00eda R, Tonlorenzi R, Cossu G, Illa I<\/div><div class=\"cnt_rev\">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\/22980766\">Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.<\/a><\/div><div class=\"cnt_autores\">Alejaldre A, D\u00edaz-Manera J, Ravaglia S, Tibaldi EC, D'Amore F, Mor\u00eds G, Muelas N, V\u00edlchez JJ, Garc\u00eda-Medina A, Us\u00f3n M, Mart\u00ednez Garc\u00eda FA, Illa I, Pichiecchio 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\/22730558\">Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.<\/a><\/div><div class=\"cnt_autores\">Nogales-Gadea G, Pin\u00f3s T, Lucia A, Arenas J, Camara Y, Brull A, de Luna N, Mart\u00edn MA, Garcia-Arum\u00ed E, Mart\u00ed R, Andreu AL<\/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\/22189568\">Modifying the Medical Research Council grading system through Rasch analyses.<\/a><\/div><div class=\"cnt_autores\">Vanhoutte EK, Faber CG, van Nes SI, Jacobs BC, van Doorn PA, van Koningsveld R, Cornblath DR, van der Kooi AJ, Cats EA, van den Berg LH, Notermans NC, van der Pol WL, Hermans MC, van der Beek NA, Gorson KC, Eurelings M, Engelsman J, Boot H, Meijer RJ, Lauria G, Tennant A, Merkies IS, PeriNomS Study Group<\/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\/22492103\">Clinical guidelines for late-onset Pompe disease.<\/a><\/div><div class=\"cnt_autores\">Barba-Romero MA, Barrot E, Bautista-Lorite J, Gutierrez-Rivas E, Illa I, Jimenez LM, Ley-Martos M, Lopez de Munain A, Pardo J, Pascual-Pascual SI, Perez-Lopez J, Solera J, Vilchez-Padilla JJ<\/div><div class=\"cnt_rev\">Rev Neurol<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2011<\/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\/22072432\">Identification of novel GH-regulated genes in C2C12 cells.<\/a><\/div><div class=\"cnt_autores\">Resmini E, Morte B, Sorianello E, Gallardo E, de Luna N, Illa I, Zorzano A, Bernal J, Webb SM<\/div><div class=\"cnt_rev\">Horm Metab Res<\/div><\/div><\/div><\/div><div class=\"cnt_year\"><div class=\"cnt_articulo cnt_articulo_year\"><div class=\"cnt_year_pub\">2010<\/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\/19726412\">Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.<\/a><\/div><div class=\"cnt_autores\">Rojas-Garcia R, Gallardo E, De Luna N, Juarez C, Martinez-Hernandez E, Carvajal A, Casasnovas C, Fages E, Davila-Gonz\u00e1lez P, Illa I<\/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\">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\/18344054\">Antibodies against disialosyl and terminal NeuNAc(alpha2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathy.<\/a><\/div><div class=\"cnt_autores\">Rojas-Garcia R, Gallardo E, Povedano M, de Luna N, Bruna J, Juarez C, Diaz-Manera J, Martinez-Matos JA, Illa I<\/div><div class=\"cnt_rev\">J Neurol<\/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><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\/16154688\">Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.<\/a><\/div><div class=\"cnt_autores\">Paradas C, Fernandez-Cadenas I, Gallardo E, Llig\u00e9 D, Arenas J, Illa I, Andreu AL<\/div><div class=\"cnt_rev\">Neurosci Lett<\/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><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\/14694058\">Chronic neuropathy with IgM anti-ganglioside antibodies: lack of long term response to rituximab.<\/a><\/div><div class=\"cnt_autores\">Rojas-Garc\u00eda R, Gallardo E, de Andr\u00e9s I, de Luna N, Juarez C, S\u00e1nchez P, Illa I<\/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\">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 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class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/11694322\">Antiganglioside antibodies in acute self-limiting ataxic neuropathy: incidence and significance.<\/a><\/div><div class=\"cnt_autores\">Serrano-Munuera C, Gallardo E, Rojas R, De Luna N, Gonz\u00e1lez-Masegosa A, Mart\u00ed-Mass\u00f3 JF, Mart\u00ednez-Matos A, Ort\u00edz N, Re\u00f1\u00e9 R, Berciano J, Grau JM, Willison HJ, Graus F, 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\/11440679\">[Anti-GQ1b antibodies: usefulness of its detection for the diagnosis of Miller-Fisher syndrome].<\/a><\/div><div class=\"cnt_autores\">Rojas-Garc\u00eda R, Gallardo E, Serrano-Munuera C, de Luna N, Ortiz E, Roig C, Grau-Veciana JM, Illa I<\/div><div class=\"cnt_rev\">Med Clin (Barc)<\/div><\/div><\/div><\/div><\/div>\n<div id=\"gtx-trans\" style=\"position: absolute; left: -83px; 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":2,"comment_status":"closed","ping_status":"closed","template":"100-width.php","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-448","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>Glucogenosis - 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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