未登录 C-terminal extension of HSPB6 in a family with myopathy and cataract HSPB6的C端延伸在一个伴有肌病和白内障的家庭中 Sarparanta, Jaakko; Jonson, Per Harald; Vihola, Anna; Luque, Helena; Villar-Quiles, Rocio-Nur; Stojkovic, Tanya; Sian, Veronica; Walder, Charlotte; Suominen, Tiina; Hackman, Peter; Romero, Norma B.; Eymard, Bruno; Udd, Bjarne 分享 收藏
Comparison of juvenile and adult myasthenia gravis in a French cohort with focus on thymic histology Truffault, Frederique; Auger, Ludivine; Dragin, Nadine; Vilquin, Jean-Thomas; Fadel, Elie; de Montpreville, Vincent Thomas; Mansuet-Lupo, Audrey; Regnard, Jean-Francois; Alifano, Marco; Sharshar, Tarek; Behin, Anthony; Eymard, Bruno; Bolgert, Francis; Demeret, Sophie; Berrih-Aknin, Sonia; Le Panse, Rozen 分享 收藏
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation vanden Brande, Laura; Bauche, Stephanie; Perez-Guardia, Laura; Sternberg, Damien; Seferian, Andreea M.; Malfatti, Edoardo; Silva-Rojas, Roberto; Labasse, Clemence; Chevessier, Frederic; Carlier, Pierre; Eymard, Bruno; Romero, Norma B.; Laporte, Jocelyn; Servais, Laurent; Gidaro, Teresa; Bohm, Johann 分享 收藏
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome Masingue, Marion; Cattaneo, Olivia; Wolff, Nicolas; Buon, Celine; Sternberg, Damien; Euchparmakian, Morgane; Boex, Myriam; Behin, Anthony; Mamchaouhi, Kamel; Maisonobe, Thierry; Nougues, Marie-Christine; Isapof, Arnaud; Fontaine, Bertrand; Messeant, Julien; Eymard, Bruno; Strochlic, Laure; Bauche, Stephanie 分享 收藏
Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11 Kramer, J. J.; Boon, H. T. M.; Leijten, Q. H.; Ter Laak, Henk; Eshuis, L.; Kusters, B.; van Doorn, J. L. M.; Kamsteeg, E. J.; Eymard, B.; Doorduin, J.; Voermans, N. C. 分享 收藏
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons Jacquier, Arnaud; Risson, Valerie; Simonet, Thomas; Roussange, Florine; Lacoste, Nicolas; Ribault, Shams; Carras, Julien; Theuriet, Julian; Girard, Emmanuelle; Grosjean, Isabelle; Le Goff, Laure; Kroger, Stephan; Meltoranta, Julia; Bauche, Stephanie; Sternberg, Damien; Fournier, Emmanuel; Kostera-Pruszczyk, Anna; O'Connor, Emily; Eymard, Bruno; Lochmuller, Hanns; Martinat, Cecile; Schaeffer, Laurent 分享 收藏
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Congenital Nemaline Myopathy with Dense Protein Masses Bevilacqua, Jorge A.; Malfatti, Edoardo; Labasse, Emence; Brochier, Guy; Madelaine, Angeline; Lacene, Emmanuelle; Doray, Berenice; Laforet, Pascal; Eymard, Bruno; Rendu, John; Romero, Norma B. 分享 收藏
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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course Biancalana, Valerie; Rendu, John; Chaussenot, Annabelle; Mecili, Helen; Bieth, Eric; Fradin, Melanie; Mercier, Sandra; Michaud, Maud; Nougues, Marie-Christine; Pasquier, Laurent; Sacconi, Sabrina; Romero, Norma B.; Marcorelles, Pascale; Authier, Francois Jerome; Gelot Bernabe, Antoinette; Uro-Coste, Emmanuelle; Cances, Claude; Isidor, Bertrand; Magot, Armelle; Minot-Myhie, Marie-Christine; Pereon, Yann; Perrier-Boeswillwald, Julie; Bretaudeau, Gilles; Dondaine, Nicolas; Bouzenard, Alison; Pizzimenti, Megane; Eymard, Bruno; Ferreiro, Ana; Laporte, Jocelyn; Faure, Julien; Bohm, Johann 分享 收藏
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes Bauche, Stephanie; Sureau, Alain; Sternberg, Damien; Rendu, John; Buon, Celine; Messeant, Julien; Boex, Myriam; Furling, Denis; Faure, Julien; Latypova, Xenia; Gelot, Antoinette Bernabe; Mayer, Michele; Mary, Pierre; Whalen, Sandra; Fournier, Emmanuel; Cloix, Isabelle; Remerand, Ganaelle; Laffargue, Fanny; Nougues, Marie-Christine; Fontaine, Bertrand; Eymard, Bruno; Isapof, Arnaud; Strochlic, Laure 分享 收藏
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Risk factors associated with myasthenia gravis in thymoma patients: The potential role of thymic germinal centers Lefeuvre, Claire M. J.; Payet, Cloe A.; Fayet, Odessa-Maud; Maillard, Solene; Truffault, Frederique; Bondet, Vincent; Duffy, Darragh; de Montpreville, Vincent; Ghigna, Maria-Rosa; Fadel, Elie; Mansuet-Lupo, Audrey; Alifano, Marco; Validire, Pierre; Gossot, Dominique; Behin, Anthony; Eymard, Bruno; Berrih-Alknin, Sonia; Le Panse, Rozen 分享 收藏
FSHD1 and FSHD2 form a disease continuum Sacconi, Sabrina; Briand-Suleau, Audrey; Gros, Marilyn; Baudoin, Christian; Lemmers, Richard J. L. F.; Rondeau, Sophie; Lagha, Nadira; Nigumann, Pilvi; Cambieri, Chiara; Puma, Angela; Chapon, Francoise; Stojkovic, Tanya; Vial, Christophe; Bouhour, Francoise; Cao, Michelangelo; Pegoraro, Elena; Petiot, Philippe; Behin, Anthony; Marc, Bras; Eymard, Bruno; Echaniz-Laguna, Andoni; Laforet, Pascal; Salviati, Leonardo; Jeanpierre, Marc; Cristofari, Gael; van der Maarel, Silvere M. 分享 收藏
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy Nguyen, Karine; Broucqsault, Natacha; Chaix, Charlene; Roche, Stephane; Robin, Jerome D.; Vovan, Catherine; Gerard, Laurene; Megarbane, Andre; Urtizberea, Jon Andoni; Bellance, Remi; Barnerias, Christine; David, Albert; Eymard, Bruno; Fradin, Melanie; Manel, Veronique; Sacconi, Sabrina; Tiffreau, Vincent; Zagnoli, Fabien; Cuisset, Jean-Marie; Salort-Campana, Emmanuelle; Attarian, Shahram; Bernard, Rafaelle; Levy, Nicolas; Magdinier, Frederique 分享 收藏
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy Mohassel, Payam; Landon-Cardinal, Oceane; Foley, A. Reghan; Donkervoort, Sandra; Pak, Katherine S.; Wahl, Colleen; Shebert, Robert T.; Harper, Amy; Fequiere, Pierre; Meriggioli, Matthew; Toro, Camilo; Drachman, Daniel; Allenbach, Yves; Benveniste, Olivier; Behin, Anthony; Eymard, Bruno; Laforet, Pascal; Stojkovic, Tanya; Mammen, Andrew L.; Bonnemann, Carsten G. 分享 收藏
High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy 强直性肌营养不良的致命性和非致命性静脉血栓栓塞的高风险 Sochala, Maximilien; Porcher, Raphael; Stojkovic, Tanya; Becane, Henri Marc; Behin, Anthony; Laforet, Pascal; Bassez, Guillaume; Leonard-Louis, Sarah; Eymard, Bruno; Furling, Denis; Duboc, Denis; Wahbi, Karim 分享 收藏
Necrosis in anti-SRP+ and anti-HMGCR+myopathies: Role of autoantibodies and complement Allenbach, Yves; Arouche-Delaperche, Louiza; Preusse, Corinna; Radbruch, Helena; Butler-Browne, Gillian; Champtiaux, Nicolas; Mariampillai, Kuberaka; Rigolet, Aude; Hufnagl, Peter; Zerbe, Norman; Amelin, Damien; Maisonobe, Thierry; Louis-Leonard, Sarah; Duyckaerts, Charles; Eymard, Bruno; Goebel, Hans-Hilmar; Bergua, Cecile; Drouot, Laurent; Boyer, Olivier; Benveniste, Olivier; Stenzel, Werner 分享 收藏
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