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Interferon-γ causes myogenic cell dysfunction and senescence in immune myopathies Hou, Cyrielle; Periou, Baptiste; Gervais, Marianne; Martin, Ludovic; Berthier, Juliette; Baba-Amer, Yasmine; Souvannanorath, Sarah; Lechapt-Zalcman, Emmanuele; Malfatti, Edoardo; Gherardi, Romain K.; Relaix, Frederic; Bencze, Maximilien; Authier, Francois-Jerome 分享 收藏
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients Severa, Gianmarco; Bastu, Sultan; Borin, Giovanni Umberto; Decrouy, Xavier; Codina, Anna; Kefi, Kaouthar; Periou, Baptiste; Nadaj-Pakleza, Aleksandra; Lannes, Beatrice; Sacconi, Sabrina; Maurage, Claude-Alain; Tard, Celine; Jou, Cristina; Osorio, Andres Nascimiento; Taglietti, Valentina; Malfatti, Edoardo 分享 收藏
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Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal Ruptures van Gurp, Jonneke E.; Lechner, Rosan L.; Micha, Dimitra; Maugeri, Alessandra; Dulfer, Eelco; van Dijk, Fleur S.; Keszthelyi, Daniel; Malfatti, Edoardo; Kubo, Akiharu; Voermans, Nicol C.; Demirdas, Serwet 分享 收藏
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Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene van Kleef, Esmee S. B.; Bouman, Karlijn; Molenaar, Joery P. F.; Kusters, Benno; Groothuis, Jan T.; Olive, Montse; Malfatti, Edoardo; Kamsteeg, Erik-Jan; Van Engelen, Baziel G. M.; Ottenheijm, Coen A. C.; Doorduin, Jonne; Voermans, Nicol C. 分享 收藏
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MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort Bahout, Marie; Severa, Gianmarco; Kamoun, Emna; Bouhour, Francoise; Pegat, Antoine; Toutain, Annick; Lagrange, Emmeline; Duval, Fanny; Tard, Celine; De la Cruz, Elisa; Feasson, Leonard; Jacquin-Piques, Agnes; Richard, Pascale; Metay, Corinne; Cavalli, Michele; Romero, Norma Beatriz; Evangelista, Teresinha; Sole, Guilhem; Carlier, Robert Yves; Laforet, Pascal; Acket, Blandine; Behin, Anthony; Fernandez-Eulate, Gorka; Leonard-Louis, Sarah; Quijano-Roy, Susana; Pereon, Yann; Salort-Campana, Emmanuelle; Nadaj-Pakleza, Aleksandra; Masingue, Marion; Malfatti, Edoardo; Stojkovic, Tanya; Villar-Quiles, Rocio Nur 分享 收藏
Progressive cardiomyopathy with intercalated disc disorganization in a rat model of Becker dystrophy Taglietti, Valentina; Kefi, Kaouthar; Mirciloglu, Busra; Bastu, Sultan; Masson, Jean-Daniel; Bronisz-Budzynska, Iwona; Gouni, Vassiliki; Ferri, Carlotta; Jorge, Alan; Gentil, Christel; Pietri-Rouxel, France; Malfatti, Edoardo; Lafuste, Peggy; Tiret, Laurent; Relaix, Frederic 分享 收藏
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis Zufiria, Monica; Pikatza-Menoio, Oihane; Garciandia-Arcelus, Maddi; Bengoetxea, Xabier; Jimenez, Andres; Elicegui, Amaia; Levchuk, Maria; Arnold-Garcia, Olatz; Ondaro, Jon; Iruzubieta, Pablo; Rodriguez-Gomez, Laura; Fernandez-Pelayo, Uxoa; Munoz-Oreja, Mikel; Aiastui, Ana; Garcia-Verdugo, Jose Manuel; Herranz-Perez, Vicente; Zulaica, Miren; Poza, Juan Jose; Ruiz-Onandi, Rebeca; Fernandez-Torron, Roberto; Espinal, Juan Bautista; Bonilla, Mario; Lersundi, Ana; Fernandez-Eulate, Gorka; Riancho, Javier; Vallejo-Illarramendi, Ainara; Holt, Ian James; Saenz, Amets; Malfatti, Edoardo; Duguez, Stephanie; Blazquez, Lorea; Lopez de Munain, Adolfo; Gerenu, Gorka; Gil-Bea, Francisco; Alonso-Martin, Sonia 分享 收藏
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy Llanso, Laura; Segarra-Casas, Alba; Dominguez-Gonzalez, Cristina; Malfatti, Edoardo; Kapetanovic, Solange; Rodriguez-Santiago, Benjamin; de la Calle, Oscar; Blanco, Rosa; Dobrescu, Amelia; Nascimento-Osorio, Andres; Paipa, Andres; Hernandez-Lain, Aurelio; Jou, Cristina; Mariscal, Anais; Gonzalez-Mera, Laura; Arteche, Ana; Lleixa, Cinta; Caballero-Avila, Marta; Carbayo, Alvaro; Vesperinas, Ana; Querol, Luis; Gallardo, Eduard; Olive, Montse 分享 收藏
Inferring disease course from differential exon usage in the wide titinopathy spectrum Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Andres, David Gomez; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; De Benito, Daniel Natera; Osorio, Andres Nascimiento; Arias, Berta Estevez; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco 分享 收藏
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis Theuriet, Julian; Masingue, Marion; Behin, Anthony; Ferreiro, Ana; Bassez, Guillaume; Jaubert, Pauline; Tarabay, Oriana; Fer, Frederic; Pegat, Antoine; Bouhour, Francoise; Svahn, Juliette; Petiot, Philippe; Jomir, Laurentiu; Chauplannaz, Guy; Cornut-Chauvinc, Catherine; Manel, Veronique; Salort-Campana, Emmanuelle; Attarian, Shahram; Fortanier, Etienne; Verschueren, Annie; Kouton, Ludivine; Camdessanche, Jean-Philippe; Tard, Celine; Magot, Armelle; Pereon, Yann; Noury, Jean-Baptiste; Minot-Myhie, Marie-Christine; Perie, Maud; Taithe, Frederic; Farhat, Yacine; Millet, Anne-Laure; Cintas, Pascal; Sole, Guilhem; Spinazzi, Marco; Esselin, Florence; Renard, Dimitri; Sacconi, Sabrina; Ezaru, Andra; Malfatti, Edoardo; Mallaret, Martial; Magy, Laurent; Diab, Eva; Merle, Philippe; Michaud, Maud; Fournier, Maxime; Pakleza, Aleksandra Nadaj; Chanson, Jean-Baptiste; Lefeuvre, Claire; Laforet, Pascal; Richard, Pascale; Sternberg, Damien; Villar-Quiles, Rocio-Nur; Stojkovic, Tanya; Eymard, Bruno 分享 收藏
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker 分享 收藏
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability Onnee, Marion; Benezit, Audrey; Bastu, Sultan; Nadaj-Pakleza, Aleksandra; Lannes, Beatrice; Ader, Flavie; Theze, Corinne; Cintas, Pascal; Cances, Claude; Carlier, Robert-Yves; Metay, Corinne; Cossee, Mireille; Malfatti, Edoardo 分享 收藏
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