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Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA) X连锁过度自噬肌病（XMEA）患者的临床、形态学和分子特征 Merlet, Angele N.; Lacene, Emmanuelle; Nelson, Isabelle; Brochier, Guy; Labasse, Clemence; Chanut, Anais; Madelaine, Angeline; Beuvin, Maud; Bonne, Gisele; Feasson, Leonard; Minot, Marie-Christine; Noury, Jean-Baptiste; Fradin, Melanie; Savarese, Marco; Fernandez-Eulate, Gorka; Behin, Anthony; Stojkovic, Tanya; Hentschel, Andreas; Marcorelles, Pascale; Roos, Andreas; Evangelista, Teresinha 分享 收藏
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Titin copy number variations associated with dominant inherited phenotypes Perrin, Aurelien; Metay, Corinne; Savarese, Marco; Ben Yaou, Rabah; Demidov, German; Nelson, Isabelle; Sole, Guilhem; Pereon, Yann; Bertini, Enrico Silvio; Fattori, Fabiana; D'Amico, Adele; Ricci, Federica; Ginsberg, Mira; Seferian, Andreea; Boespflug-Tanguy, Odile; Servais, Laurent; Chapon, Francoise; Lagrange, Emmeline; Gaudon, Karen; Bloch, Adrien; Ghanem, Robin; Guyant-Marechal, Lucie; Johari, Mridul; Van Goethem, Charles; Fardeau, Michel; Morales, Raul Juntas; Genetti, Casie A.; Marttila, Minttu; Koenig, Michel; Beggs, Alan; Udd, Bjarne; Bonne, Gisele; Cossee, Mireille 分享 收藏
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Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts Benarroch, Louise; Madsen-Osterbye, Julia; Abdelhalim, Mohamed; Mamchaoui, Kamel; Ohana, Jessica; Bigot, Anne; Mouly, Vincent; Bonne, Gisele; Bertrand, Anne T. T.; Collas, Philippe 分享 收藏
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD Stojkovic, Tanya; Masingue, Marion; Metay, Corinne; Romero, Norma B.; Eymard, Bruno; Ben Yaou, Rabah; Rialland, Laetitia; Drunat, Severine; Gartioux, Corine; Nelson, Isabelle; Allamand, Valerie; Bonne, Gisele; Villar-Quiles, Rocio Nur 分享 收藏
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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients Torelli, Silvia; Scaglioni, Domenic; Sardone, Valentina; Ellis, Matthew J.; Domingos, Joana; Jones, Adam; Feng, Lucy; Chambers, Darren; Eastwood, Deborah M.; Leturcq, France; Ben Yaou, Rabah; Urtizberea, Andoni; Sabouraud, Pascal; Barnerias, Christine; Stojkovic, Tanya; Ricci, Enzo; Beuvin, Maud; Bonne, Gisele; Sewry, Caroline A.; Willis, Tracey; Kulshrestha, Richa; Tasca, Giorgio; Phadke, Rahul; Morgan, Jennifer E.; Muntoni, Francesco 分享 收藏
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (Jun, 10.1038/s41431-021-00859-0, 2021) Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schule, Rebecca; Synofzik, Matthis; Topf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; 't Hoen, Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisele; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; Swertz, Morris; Spalding, Dylan; Hoischen, Alexander; Beltran, Sergi; Graessner, Holm 分享 收藏
The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies Vignier, Nicolas; Chatzifrangkeskou, Maria; Pinton, Luca; Wioland, Hugo; Marais, Thibaut; Lemaitre, Megane; Le Dour, Caroline; Peccate, Cecile; Cardoso, Deborah; Schmitt, Alain; Wu, Wei; Biferi, Maria-Grazia; Naouar, Naira; Macquart, Coline; Beuvin, Maud; Decostre, Valerie; Bonne, Gisele; Romet-Lemonne, Guillaume; Worman, Howard J.; Tedesco, Francesco Saverio; Jegou, Antoine; Muchir, Antoine 分享 收藏
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schuele, Rebecca; Synofzik, Matthis; Topf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; 't Hoen, Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisele; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; Swertz, Morris; Spalding, Dylan; Hoischen, Alexander; Beltran, Sergi; Graessner, Holm 分享 收藏
A form of muscular dystrophy associated with pathogenic variants in JAG2 (vol 108, pg 840, 2021) Coppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B. 分享 收藏
A form of muscular dystrophy associated with pathogenic variants in JAG2 Coppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B. 分享 收藏
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