Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
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
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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Journal Article
Memory B Cells Predict Relapse in Rituximab-Treated Myasthenia Gravis
Ruetsch-Chelli, Caroline, Bresch, Saskia, Seitz-Polski, Barbara, Rosenthal, Alessandra, Desnuelle, Claude, Cohen, Mikael, Brglez, Vesna, Ticchioni, Michel, Lebrun-Frenay, Christine
Published in Neurotherapeutics (01.04.2021)
Published in Neurotherapeutics (01.04.2021)
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Journal Article
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
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.
Published in American journal of human genetics (03.10.2013)
Published in American journal of human genetics (03.10.2013)
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Journal Article
The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations
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
Published in Orphanet journal of rare diseases (10.04.2020)
Published in Orphanet journal of rare diseases (10.04.2020)
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Journal Article
Early diaphragm pacing in patients with amyotrophic lateral sclerosis (RespiStimALS): a randomised controlled triple-blind trial
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
Published in Lancet neurology (01.11.2016)
Published in Lancet neurology (01.11.2016)
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Journal Article
Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition
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
Published in Neurobiology of disease (01.09.2024)
Published in Neurobiology of disease (01.09.2024)
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Journal Article
Improving the detection of IgM antibodies against glycolipids complexes of GM1 and Galactocerebroside in Multifocal Motor Neuropathy using glycoarray and ELISA assays
Delmont, Emilien, Halstead, Susan, Galban-Horcajo, Francesc, Yao, Denggao, Desnuelle, Claude, Willison, Hugh
Published in Journal of neuroimmunology (15.01.2015)
Published in Journal of neuroimmunology (15.01.2015)
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Journal Article
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
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
Published in Orphanet journal of rare diseases (24.08.2017)
Published in Orphanet journal of rare diseases (24.08.2017)
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Journal Article
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy
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
Published in Annals of neurology (01.09.2015)
Published in Annals of neurology (01.09.2015)
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Journal Article
Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: a dysregulation of the adaptive immune system ?
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
Published in Neuromuscular disorders : NMD (01.06.2016)
Published in Neuromuscular disorders : NMD (01.06.2016)
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Journal Article
The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy
Ottaviani, Alexandre, Rival-Gervier, Sylvie, Boussouar, Amina, Foerster, Andrea M, Rondier, Delphine, Sacconi, Sabrina, Desnuelle, Claude, Gilson, Eric, Magdinier, Frédérique
Published in PLoS genetics (01.02.2009)
Published in PLoS genetics (01.02.2009)
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Journal Article
Optimal whole-body vibration settings for muscle strength and power enhancement in human knee extensors
Petit, Pierre-David, Pensini, Manuela, Tessaro, Joël, Desnuelle, Claude, Legros, Patrick, Colson, Serge S
Published in Journal of electromyography and kinesiology (01.12.2010)
Published in Journal of electromyography and kinesiology (01.12.2010)
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Journal Article
Home versus hospital immunoglobulin treatment for autoimmune neuropathies: A cost minimization analysis
Le Masson, Gwendal, Solé, Guilhem, Desnuelle, Claude, Delmont, Emilien, Gauthier‐Darnis, Marc, Puget, Sophie, Durand‐Zaleski, Isabelle
Published in Brain and behavior (01.02.2018)
Published in Brain and behavior (01.02.2018)
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Journal Article
Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials
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
Published in European journal of paediatric neurology (01.03.2012)
Published in European journal of paediatric neurology (01.03.2012)
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Journal Article
Hierarchization of Myogenic and Adipogenic Progenitors Within Human Skeletal Muscle
Pisani, Didier F., Clement, Noémie, Loubat, Agnès, Plaisant, Magali, Sacconi, Sabrina, Kurzenne, Jean‐Yves, Desnuelle, Claude, Dani, Christian, Dechesne, Claude A.
Published in Stem cells (Dayton, Ohio) (01.12.2010)
Published in Stem cells (Dayton, Ohio) (01.12.2010)
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Journal Article
Isolation of a Highly Myogenic CD34‐Negative Subset of Human Skeletal Muscle Cells Free of Adipogenic Potential
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
Published in Stem cells (Dayton, Ohio) (01.04.2010)
Published in Stem cells (Dayton, Ohio) (01.04.2010)
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Journal Article
Development of a French Isometric Strength Normative Database for Adults Using Quantitative Muscle Testing
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
Published in Archives of physical medicine and rehabilitation (01.10.2007)
Published in Archives of physical medicine and rehabilitation (01.10.2007)
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Journal Article
Neuromuscular Electrical Stimulation Training: A Safe and Effective Treatment for Facioscapulohumeral Muscular Dystrophy Patients
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
Published in Archives of physical medicine and rehabilitation (01.05.2010)
Published in Archives of physical medicine and rehabilitation (01.05.2010)
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Journal Article
Facioscapulohumeral muscular dystrophy
Sacconi, Sabrina, Salviati, Leonardo, Desnuelle, Claude
Published in Biochimica et biophysica acta (01.04.2015)
Published in Biochimica et biophysica acta (01.04.2015)
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Journal Article
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
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.
Published in Nature neuroscience (01.05.2015)
Published in Nature neuroscience (01.05.2015)
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