{"id":452,"date":"2025-03-27T06:20:27","date_gmt":"2025-03-27T05:20:27","guid":{"rendered":"https:\/\/www.neuromuscularbcn.org\/?page_id=452"},"modified":"2025-04-29T12:44:16","modified_gmt":"2025-04-29T10:44:16","slug":"estudis-radiologics-en-distrofies-musculars","status":"publish","type":"page","link":"https:\/\/www.neuromuscularbcn.org\/ca\/recerca\/distrofias-musculares-y-otras-miopatias\/estudis-radiologics-en-distrofies-musculars\/","title":{"rendered":"Estudis radiol\u00f2gics 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-fc0434031ed6ccda143\" aria-selected=\"true\" id=\"fusion-tab-informaci\u00f3general\" href=\"#tab-fc0434031ed6ccda143\"><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-d6b6dd7e712072d4ac3\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-publicacions\" href=\"#tab-d6b6dd7e712072d4ac3\"><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-fc0434031ed6ccda143\">\n<h6>Informaci\u00f3 General<\/h6>\n<p><img decoding=\"async\" class=\"alignnone size-full wp-image-2737\" src=\"https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/Estudios-radiologicos-768x303-1.jpg\" alt=\"\" width=\"768\" height=\"303\" srcset=\"https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/Estudios-radiologicos-768x303-1-200x79.jpg 200w, https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/Estudios-radiologicos-768x303-1-300x118.jpg 300w, https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/Estudios-radiologicos-768x303-1-400x158.jpg 400w, https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/Estudios-radiologicos-768x303-1-600x237.jpg 600w, https:\/\/www.neuromuscularbcn.org\/wp-content\/uploads\/2025\/04\/Estudios-radiologicos-768x303-1.jpg 768w\" sizes=\"(max-width: 768px) 100vw, 768px\" \/><\/p>\n<p>Es tracta d\u2019estudis observacionals transversals en els que hem realitzat resson\u00e0ncia magn\u00e8tica de cos sencer amb la seq\u00fc\u00e8ncia T1 a pacients amb diverses malalties musculars. Aquests estudis han perm\u00e8s identificar els patrons d\u2019afectaci\u00f3 muscular de diverses malalties incloent la distr\u00f2fia muscular per d\u00e8ficit d\u2019disferlina, les distr\u00f2fies musculars per d\u00e8ficit d\u2019emerina i lamina, les malalties de col\u00b7lagen VI i m\u00e9s recentment la distr\u00f2fia oculofar\u00edngea.<\/p>\n<p>Aquests estudis han estat possibles gr\u00e0cies a la col\u00b7laboraci\u00f3 de diversos grups de treball nacionals i internacionals.<\/p>\n<p>En aquests moments estem estudiant el patr\u00f3 d\u2019afectaci\u00f3 de la distr\u00f2fia muscular oculofar\u00edngea. Es tracta d\u2019una malaltia autos\u00f2mica dominant caracteritzada per la tr\u00edada de ptosis palpebral, disf\u00e0gia i debilitat muscular de cintures. Hem analitzat ja un total de 35 resson\u00e0ncies de diferents pacients, espanyols i europeus. El nostre objectiu \u00e9s poder analitzar 60 pacients com a m\u00ednim.<\/p>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-publicacions\" id=\"tab-d6b6dd7e712072d4ac3\">\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\/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\/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><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\/41475892\">Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.<\/a><\/div><div class=\"cnt_autores\">Costa-Comellas L, Monforte M, Sanchez-Monta\u00f1ez A, Romero-Duque P, Pegoraro E, D\u00edaz-Manera J, Vlodavets D, Maggi L, Moscatelli M, D'Amico A, Oliv\u00e9 M, Alonso-P\u00e9rez J, Comi G, Escudero-Fern\u00e1ndez JM, Urcuyo GS, Pichiecchio A, Berardinelli A, Claeys KG, Bruno C, Panicucci C, Bortolani S, Torchia E, Ricci E, Monges S, Bevilacqua JA, Diaz-Jara J, Walter MC, Thiele S, L\u00f8kken N, Vissing J, Quijano-Roy S, Carlier RY, Voermans NC, Marini-Bettolo C, Guglieri M, Straub V, Leonardis L, Munell F, G\u00f3mez-Andr\u00e9s D, Tasca G<\/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\/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\/41025552\">Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies.<\/a><\/div><div class=\"cnt_autores\">G\u00f3mez-Andr\u00e9s D, Costa-Comellas L, D\u00edaz-Manera J, \u00d5unap K, \u00c1lvarez-Molinero M, Urcuyo G, Savarese M, Munell F, Udd B<\/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\/40740171\">Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis.<\/a><\/div><div class=\"cnt_autores\">Bolano-Diaz CF, Reyngoudt H, Wilson IJ, James MK, Smith FE, Caldas de Almeida Araujo E, Gordish-Dressman H, Hilsden H, Rufibach LE, Wallace D, Ward L, Stramare R, Rampado A, Smith M, Boisserie JM, Le Louer J, Foster S, Peduto A, Sato N, Tamaru T, Sawyer AM, Day JW, Jones KJ, Walter MC, Stojkovic T, Mori-Yoshimura M, Mendell JR, Pegoraro E, Straub V, Blamire AM, Carlier P, Diaz-Manera J, Jain COS Consortium<\/div><div class=\"cnt_rev\">Neurol Genet<\/div><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/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\/40129306\">Sarcoglycanopathies: From clinical diagnosis to new promising therapies.<\/a><\/div><div class=\"cnt_autores\">Borland H, Diaz-Manera J<\/div><div class=\"cnt_rev\">J Neuromuscul 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\/40523712\">Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum.<\/a><\/div><div class=\"cnt_autores\">Alonso-P\u00e9rez J, Barrachina-Esteve O, Gonz\u00e1lez-Quereda L, Viguera-Martinez ML, Luj\u00e1n-Torn\u00e9 M, Guitart-Feliubadal\u00f3 M, Miguel Mart\u00ednez J, Carbayo \u00c1, Gallano P, D\u00edaz-Manera J, Oliv\u00e9 M, Rojas-Garcia R<\/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\/40275674\">Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI.<\/a><\/div><div class=\"cnt_autores\">Verdu-Diaz J, Bolano-D\u00edaz C, Gonzalez-Chamorro A, Fitzsimmons S, Warman-Chardon J, Kocak GS, Mucida-Alvim D, Smith IC, Vissing J, Poulsen NS, Luo S, Dom\u00ednguez-Gonz\u00e1lez C, Bermejo-Guerrero L, Gomez-Andres D, Sotoca J, Pichiecchio A, Nicolosi S, Monforte M, Brogna C, Mercuri E, Bevilacqua JA, D\u00edaz-Jara J, Pizarro-Galleguillos B, Krkoska P, Alonso-P\u00e9rez J, Oliv\u00e9 M, Niks EH, Kan HE, Lilleker J, Roberts M, Buchignani B, Shin J, Esselin F, Le Bars E, Childs AM, Malfatti E, Sarkozy A, Perry L, Sudhakar S, Zanoteli E, Di Pace FT, Matthews E, Attarian S, Bendahan D, Garibaldi M, Fionda L, Alonso-Jim\u00e9nez A, Carlier R, Okhovat AA, Nafissi S, Nalini A, Vengalil S, Hollingsworth K, Marini-Bettolo C, Straub V, Tasca G, Bacardit J, D\u00edaz-Manera J, Myo\u2010Guide Consortium<\/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\/40023774\">Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.<\/a><\/div><div class=\"cnt_autores\">De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, T\u00f6pf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Z\u00fcchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J<\/div><div class=\"cnt_rev\">Genet Med<\/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\/39900102\">Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using (23)Na-MRI in Dysferlinopathy and Healthy Controls.<\/a><\/div><div class=\"cnt_autores\">Neal MA, Bolano-Diaz CF, Richardson M, Michell-Sodhi J, Muni-Lofra R, James MK, Hollingsworth KG, Hilsden H, Wilson I, Blamire AM, Straub V, Thelwall PE, 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\/39812845\">Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.<\/a><\/div><div class=\"cnt_autores\">Iruzubieta P, Verd\u00fa-D\u00edaz J, T\u00f6pf A, Luce L, Claeys KG, De Ridder W, Gonz\u00e1lez-Quereda L, de Fuenmayor-Fern\u00e1ndez de la Hoz CP, Poza JJ, Zulaica M, de Jonghe P, Duff J, Mroczek M, Mart\u00edn-Jim\u00e9nez P, Hern\u00e1ndez-La\u00edn A, Dom\u00ednguez-Gonz\u00e1lez C, Baets J, Gallano P, D\u00edaz-Manera J, Straub V, L\u00f3pez de Munain A, Fernandez-Torron R<\/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\/39132784\">MRI for the diagnosis of limb girdle muscular dystrophies.<\/a><\/div><div class=\"cnt_autores\">Bolano-D\u00edaz C, Verd\u00fa-D\u00edaz J, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">Curr Opin 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\/39371122\">Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.<\/a><\/div><div class=\"cnt_autores\">De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, T\u00f6pf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Z\u00fcchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J<\/div><div class=\"cnt_rev\">medRxiv<\/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, Pijnappel WWMP, Roberts M, Scherer T, Toscano A, Vissing J, van den Hout JMP, van Doorn PA, Wenninger S, van der Ploeg AT<\/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\/38631764\">Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.<\/a><\/div><div class=\"cnt_autores\">Tawil R, Wagner KR, Hamel JI, Leung DG, Statland JM, Wang LH, Genge A, Sacconi S, Lochm\u00fcller H, Reyes-Leiva D, Diaz-Manera J, Alonso-Perez J, Muelas N, Vilchez JJ, Pestronk A, Gibson S, Goyal NA, Hayward LJ, Johnson N, LoRusso S, Freimer M, Shieh PB, Subramony SH, van Engelen B, Kools J, Leinhard OD, Widholm P, Morabito C, Moxham CM, Cadavid D, Mellion ML, Odueyungbo A, Tracewell WG, Accorsi A, Ronco L, Gould RJ, Shoskes J, Rojas LA, Jiang JG<\/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\/38349561\">Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP\u2011mediated disease reveals characteristic features useful for diagnosis.<\/a><\/div><div class=\"cnt_autores\">Esteller D, Schiava M, Verd\u00fa-D\u00edaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-P\u00e9rez J, Olive M, Dom\u00ednguez-Gonz\u00e1lez C, Paradas C, V\u00e9lez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, P\u00e1l E, Malfatti E, Souvannanorath S, Alonso-Jim\u00e9nez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fern\u00e1ndez-Torr\u00f3n R, L\u00f3pez de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, D\u00edaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, D\u00edaz-Manera J<\/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\/38007344\">Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases.<\/a><\/div><div class=\"cnt_autores\">Bolano-Diaz C, Verd\u00fa-D\u00edaz J, Gonzalez-Chamorro A, Fitzsimmons S, Veeranki G, Straub V, Diaz-Manera J<\/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\">2023<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37603075\">Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals 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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\/37704504\">Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis.<\/a><\/div><div class=\"cnt_autores\">Esteller D, Morrow J, Alonso-P\u00e9rez J, Reyes D, Carbayo A, Bisogni G, Cateruccia M, Monforte M, Tasca G, Alangary A, Marini-Bettolo C, Sabatelli M, Laura M, Ramdharry G, Bola\u00f1o-D\u00edaz C, Turon-Sans J, T\u00f6pf A, Guglieri M, Rossor AM, Olive M, Bertini E, Straub V, Reilly MM, Rojas-Garc\u00eda R, 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\/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\/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 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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 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, 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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\/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 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Lleixa C, Illa I, Gallano P, Diaz-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\/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\/29645070\">[Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA].<\/a><\/div><div class=\"cnt_autores\">Erdocia-Goni A, Alonso-Jimenez A, Ramon-Carbajo C, Garcia-Arumi E, Casquero P, Gallardo E, Diaz-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\/28889091\">MRI in sarcoglycanopathies: a large international cohort study.<\/a><\/div><div class=\"cnt_autores\">Tasca G, Monforte M, D\u00edaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, L\u00f8kken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlov\u00e1 J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, B\u00f6nnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C<\/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\">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\/28608302\">Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).<\/a><\/div><div class=\"cnt_autores\">Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM<\/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\/28521973\">1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France.<\/a><\/div><div class=\"cnt_autores\">Marsolier J, Laforet P, Pegoraro E, Vissing J, Richard I, Sarcoglycanopathies Working 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\/28503705\">Muscle MRI in neutral lipid storage disease (NLSD).<\/a><\/div><div class=\"cnt_autores\">Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM<\/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\">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\/27298456\">Teaching Video NeuroImages: The Beevor sign in late-onset Pompe disease.<\/a><\/div><div class=\"cnt_autores\">Garibaldi M, Diaz-Manera J, Gallardo E, Antonini G<\/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\/27854213\">Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.<\/a><\/div><div class=\"cnt_autores\">Cruz S, Figueroa-Bonaparte S, Gallardo E, de Becdeli\u00e8vre A, Gartioux C, Allamand V, Pi\u00f1ol P, Garcia MA, Jim\u00e9nez-Mallebriera C, Llauger J, Gonz\u00e1lez-Rodr\u00edguez L, Cortes-Vicente E, Illa I, D\u00edaz-Manera J<\/div><div class=\"cnt_rev\">J Neuromuscul 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\/26573435\">Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.<\/a><\/div><div class=\"cnt_autores\">D\u00edaz-Manera J, Alejaldre A, Gonz\u00e1lez L, Oliv\u00e9 M, G\u00f3mez-Andr\u00e9s D, Muelas N, V\u00edlchez JJ, Llauger J, Carbonell P, M\u00e1rquez-Infante C, Fern\u00e1ndez-Torr\u00f3n R, Poza JJ, L\u00f3pez de Mun\u00e1in A, Gonz\u00e1lez-Quereda L, Mirabet S, Clarimon J, Gallano P, Rojas-Garc\u00eda R, Gallardo E, Illa I<\/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\">2015<\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_year_pub\"><\/div><\/div><div class=\"cnt_txt\"><\/div><\/div> <div class=\"cnt_articulo\"><div class=\"cnt_year_pub\"><\/div><div class=\"cnt_sep\"><div class=\"circ_sep sep_arti_pub\"><\/div><\/div><div class=\"cnt_txt\"><div class=\"cnt_title\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27199536\">Muscle MRI in muscular dystrophies.<\/a><\/div><div class=\"cnt_autores\">D\u00edaz-Manera J, Llauger J, Gallardo E, Illa I<\/div><div class=\"cnt_rev\">Acta Myol<\/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\/25793766\">Alterations in cerebral white matter and neuropsychology in patients with cirrhosis and falls.<\/a><\/div><div class=\"cnt_autores\">G\u00f3mez-Ans\u00f3n B, Rom\u00e1n E, Fern\u00e1ndez de Bobadilla R, Pires-Encuentra P, D\u00edaz-Manera J, N\u00fa\u00f1ez F, Martinez-Horta S, Vives-Gilabert Y, Pagonabarraga J, Kulisevsky J, Cordoba J, Guarner C, Soriano G<\/div><div class=\"cnt_rev\">PLoS One<\/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\/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><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\/20574037\">Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.<\/a><\/div><div class=\"cnt_autores\">Paradas C, Llauger J, Diaz-Manera J, Rojas-Garc\u00eda R, De Luna N, Iturriaga C, M\u00e1rquez C, Us\u00f3n M, Hankiewicz K, Gallardo E, 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\">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\/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>\n<div id=\"gtx-trans\" style=\"position: absolute; left: -88px; 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":3,"comment_status":"closed","ping_status":"closed","template":"100-width.php","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-452","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>Estudis radiol\u00f2gics en 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\" href=\"https:\/\/www.neuromuscularbcn.org\/ca\/recerca\/distrofias-musculares-y-otras-miopatias\/estudis-radiologics-en-distrofies-musculars\/\" \/>\n<meta property=\"og:locale\" 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