Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 von Lemmers, Richard J L F, Tawil, Rabi, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, den Dunnen, Johan T, Helmer, Quinta, Donlin-Smith, Colleen M, Padberg, George W, van Engelen, Baziel G M, de Greef, Jessica C, Aartsma-Rus, Annemieke M, Frants, Rune R, de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N, Bakker, Bert, Bamshad, Michael J, Tapscott, Stephen J, Miller, Daniel G, van der Maarel, Silvère M

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Memory B Cells Predict Relapse in Rituximab-Treated Myasthenia Gravis von Ruetsch-Chelli, Caroline, Bresch, Saskia, Seitz-Polski, Barbara, Rosenthal, Alessandra, Desnuelle, Claude, Cohen, Mikael, Brglez, Vesna, Ticchioni, Michel, Lebrun-Frenay, Christine

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Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition von Huin, Vincent, Blum, David, Delforge, Violette, Cailliau, Emeline, Djeziri, Sofia, Dujardin, Kathy, Genet, Alexandre, Viard, Romain, Attarian, Shahram, Bruneteau, Gaelle, Cassereau, Julien, Genestet, Steeve, Kaminsky, Anne-Laure, Soriani, Marie-Hélène, Lefilliatre, Mathilde, Couratier, Philippe, Pittion-Vouyovitch, Sophie, Esselin, Florence, De La Cruz, Elisa, Guy, Nathalie, Kolev, Ivan, Corcia, Philippe, Cintas, Pascal, Desnuelle, Claude, Buée, Luc, Danel-Brunaud, Véronique, Devos, David, Rolland, Anne-Sophie

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The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 von Sacconi, Sabrina, Lemmers, Richard J.L.F., Balog, Judit, van der Vliet, Patrick J., Lahaut, Pauline, van Nieuwenhuizen, Merlijn P., Straasheijm, Kirsten R., Debipersad, Rashmie D., Vos-Versteeg, Marianne, Salviati, Leonardo, Casarin, Alberto, Pegoraro, Elena, Tawil, Rabi, Bakker, Egbert, Tapscott, Stephen J., Desnuelle, Claude, van der Maarel, Silvère M.

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The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations von Pradat, Pierre-François, Bernard, Emilien, Corcia, Philippe, Couratier, Philippe, Jublanc, Christel, Querin, Giorgia, Morélot Panzini, Capucine, Salachas, François, Vial, Christophe, Wahbi, Karim, Bede, Peter, Desnuelle, Claude

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Early diaphragm pacing in patients with amyotrophic lateral sclerosis (RespiStimALS): a randomised controlled triple-blind trial von Gonzalez-Bermejo, Jésus, Dr, Morélot-Panzini, Capucine, MD, Tanguy, Marie-Laure, PharmD, Meininger, Vincent, Prof, Pradat, Pierre-François, MD, Lenglet, Timothée, MD, Bruneteau, Gaëlle, MD, Forestier, Nadine Le, MD, Couratier, Philippe, Prof, Guy, Nathalie, MD, Desnuelle, Claude, Prof, Prigent, Hélène, MD, Perrin, Christophe, MD, Attali, Valérie, MD, Fargeot, Catherine, PharmD, Nierat, Marie-Cécile, PhD, Royer, Catherine, MD, Ménégaux, Fabrice, Prof, Salachas, François, MD, Similowski, Thomas, Prof

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Improving the detection of IgM antibodies against glycolipids complexes of GM1 and Galactocerebroside in Multifocal Motor Neuropathy using glycoarray and ELISA assays von Delmont, Emilien, Halstead, Susan, Galban-Horcajo, Francesc, Yao, Denggao, Desnuelle, Claude, Willison, Hugh

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A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease von Byrne, Barry J, Geberhiwot, Tarekegn, Barshop, Bruce A, Barohn, Richard, Hughes, Derralynn, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reilley, Kristin, Jayaram, Kala, Yang, Ke, Walsh, Liron

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Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy von Mariot, Virginie, Roche, Stephane, Hourdé, Christophe, Portilho, Debora, Sacconi, Sabrina, Puppo, Francesca, Duguez, Stephanie, Rameau, Philippe, Caruso, Nathalie, Delezoide, Anne-Lise, Desnuelle, Claude, Bessières, Bettina, Collardeau, Sophie, Feasson, Leonard, Maisonobe, Thierry, Magdinier, Frederique, Helmbacher, Françoise, Butler-Browne, Gillian, Mouly, Vincent, Dumonceaux, Julie

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Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: a dysregulation of the adaptive immune system ? von Amador, Maria del Mar, MD, Vandenberghe, Nadia, MD, Berhoune, Nawel, MD, Camdessanché, Jean-Philippe, MD, PhD, Gronier, Sophie, MD, Delmont, Emilien, MD, PhD, Desnuelle, Claude, MD, PhD, Cintas, Pascal, MD, Pittion, Sophie, MD, Louis, Sarah, MD, Demeret, Sophie, MD, Lenglet, Timothée, MD, Meininger, Vincent, MD, PhD, Salachas, François, MD, Pradat, Pierre-François, MD, PhD, Bruneteau, Gaëlle, MD, PhD

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The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy von Ottaviani, Alexandre, Rival-Gervier, Sylvie, Boussouar, Amina, Foerster, Andrea M, Rondier, Delphine, Sacconi, Sabrina, Desnuelle, Claude, Gilson, Eric, Magdinier, Frédérique

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Optimal whole-body vibration settings for muscle strength and power enhancement in human knee extensors von Petit, Pierre-David, Pensini, Manuela, Tessaro, Joël, Desnuelle, Claude, Legros, Patrick, Colson, Serge S

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Hierarchization of Myogenic and Adipogenic Progenitors Within Human Skeletal Muscle von Pisani, Didier F., Clement, Noémie, Loubat, Agnès, Plaisant, Magali, Sacconi, Sabrina, Kurzenne, Jean‐Yves, Desnuelle, Claude, Dani, Christian, Dechesne, Claude A.

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Isolation of a Highly Myogenic CD34‐Negative Subset of Human Skeletal Muscle Cells Free of Adipogenic Potential von Pisani, Didier F., Dechesne, Claude A., Sacconi, Sabrina, Delplace, Severine, Belmonte, Nathalie, Cochet, Olivia, Clement, Noémie, Wdziekonski, Brigitte, Villageois, Albert P., Butori, Catherine, Bagnis, Claude, Di Santo, James P., Kurzenne, Jean‐Yves, Desnuelle, Claude, Dani, Christian

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Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials von Humbertclaude, Véronique, Hamroun, Dalil, Bezzou, Kamel, Bérard, Carole, Boespflug-Tanguy, Odile, Bommelaer, Christine, Campana-Salort, Emmanuelle, Cances, Claude, Chabrol, Brigitte, Commare, Marie-Christine, Cuisset, Jean-Marie, de Lattre, Capucine, Desnuelle, Claude, Echenne, Bernard, Halbert, Cécile, Jonquet, Olivier, Labarre-Vila, Annick, N’Guyen-Morel, Marie-Ange, Pages, Michel, Pepin, Jean-Louis, Petitjean, Thierry, Pouget, Jean, Ollagnon-Roman, Elisabeth, Richelme, Christian, Rivier, François, Sacconi, Sabrina, Tiffreau, Vincent, Vuillerot, Carole, Picot, Marie-Christine, Claustres, Mireille, Béroud, Christophe, Tuffery-Giraud, Sylvie

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Home versus hospital immunoglobulin treatment for autoimmune neuropathies: A cost minimization analysis von Le Masson, Gwendal, Solé, Guilhem, Desnuelle, Claude, Delmont, Emilien, Gauthier‐Darnis, Marc, Puget, Sophie, Durand‐Zaleski, Isabelle

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Development of a French Isometric Strength Normative Database for Adults Using Quantitative Muscle Testing von Hogrel, Jean-Yves, PhD, Payan, Christine A., MD, Ollivier, Gwenn, PT, Tanant, Véronique, PT, Attarian, Shahram, MD, Couillandre, Annabelle, PhD, PT, Dupeyron, Arnaud, MD, Lacomblez, Lucette, MD, PhD, Doppler, Valérie, MD, Meininger, Vincent, MD, Tranchant, Christine, MD, PhD, Pouget, Jean, MD, Desnuelle, Claude, MD, PhD

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Facioscapulohumeral muscular dystrophy von Sacconi, Sabrina, Salviati, Leonardo, Desnuelle, Claude

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Neuromuscular Electrical Stimulation Training: A Safe and Effective Treatment for Facioscapulohumeral Muscular Dystrophy Patients von Colson, Serge S., PhD, Benchortane, Michaël, MD, Tanant, Véronique, PT, Faghan, Jean-Paul, PT, Fournier-Mehouas, Manuela, MD, Benaïm, Charles, MD, PhD, Desnuelle, Claude, MD, PhD, Sacconi, Sabrina, MD, PhD

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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia von Freischmidt, Axel, Wieland, Thomas, Richter, Benjamin, Ruf, Wolfgang, Schaeffer, Veronique, Müller, Kathrin, Marroquin, Nicolai, Nordin, Frida, Hübers, Annemarie, Weydt, Patrick, Pinto, Susana, Press, Rayomond, Millecamps, Stéphanie, Molko, Nicolas, Bernard, Emilien, Desnuelle, Claude, Soriani, Marie-Hélène, Dorst, Johannes, Graf, Elisabeth, Nordström, Ulrika, Feiler, Marisa S, Putz, Stefan, Boeckers, Tobias M, Meyer, Thomas, Winkler, Andrea S, Winkelman, Juliane, de Carvalho, Mamede, Thal, Dietmar R, Otto, Markus, Brännström, Thomas, Volk, Alexander E, Kursula, Petri, Danzer, Karin M, Lichtner, Peter, Dikic, Ivan, Meitinger, Thomas, Ludolph, Albert C, Strom, Tim M, Andersen, Peter M, Weishaupt, Jochen H

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