Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial
Buyse, Gunnar M, Prof, Voit, Thomas, Prof, Schara, Ulrike, Prof, Straathof, Chiara S M, MD, D'Angelo, M Grazia, MD, Bernert, Günther, MD, Cuisset, Jean-Marie, MD, Finkel, Richard S, Prof, Goemans, Nathalie, MD, McDonald, Craig M, Prof, Rummey, Christian, PhD, Meier, Thomas, PhD
Published in The Lancet (British edition) (02.05.2015)
Published in The Lancet (British edition) (02.05.2015)
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Journal Article
Efficacy and tolerance of gastrostomy feeding in Duchenne muscular dystrophy
Martigne, L, Seguy, D, Pellegrini, N, Orlikowski, D, Cuisset, J.-M, Carpentier, A, Tiffreau, V, Guimber, D, Gottrand, F
Published in Clinical nutrition (Edinburgh, Scotland) (01.02.2010)
Published in Clinical nutrition (Edinburgh, Scotland) (01.02.2010)
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Journal Article
Delineation of 15q13.3 microdeletions
Masurel-Paulet, A, Andrieux, J, Callier, P, Cuisset, JM, Le Caignec, C, Holder, M, Thauvin-Robinet, C, Doray, B, Flori, E, Alex-Cordier, MP, Beri, M, Boute, O, Delobel, B, Dieux, A, Vallee, L, Jaillard, S, Odent, S, Isidor, B, Beneteau, C, Vigneron, J, Bilan, F, Gilbert-Dussardier, B, Dubourg, C, Labalme, A, Bidon, C, Gautier, A, Pernes, P, Pinoit, JM, Huet, F, Mugneret, F, Aral, B, Jonveaux, P, Sanlaville, D, Faivre, L
Published in Clinical genetics (01.08.2010)
Published in Clinical genetics (01.08.2010)
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Journal Article
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
Daoud, Fatma, Angeard, Nathalie, Demerre, Bénédicte, Martie, Itxaso, Benyaou, Rabah, Leturcq, France, Cossée, Mireille, Deburgrave, Nathalie, Saillour, Yoann, Tuffery, Sylvie, Urtizberea, Andoni, Toutain, Annick, Echenne, Bernard, Frischman, Martine, Mayer, Michèle, Desguerre, Isabelle, Estournet, Brigitte, Réveillère, Christian, Penisson-Besnier, Cuisset, Jean Marie, Kaplan, Jean Claude, Héron, Delphine, Rivier, François, Chelly, Jamel
Published in Human molecular genetics (15.10.2009)
Published in Human molecular genetics (15.10.2009)
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Journal Article
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Bécane, H. M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U., Vorgerd, M., Wicklein, E. M., Eymard, B., Duboc, D., Penisson-Besnier, I., Cuisset, J. M., Ferrer, X., Desguerre, I., Lacombe, D., Bushby, K., Pollitt, C., Toniolo, D., Fardeau, M., Schwartz, K., Muntoni, F.
Published in Annals of neurology (01.08.2000)
Published in Annals of neurology (01.08.2000)
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Journal Article
Central manifestations of dystrophinopathies
Cuisset, J-M, Rivier, F
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.12.2015)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.12.2015)
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Journal Article
Patients with Familial Partial Lipodystrophy of the Dunnigan Type Due to a LMNA R482W Mutation Show Muscular and Cardiac Abnormalities
Vantyghem, M. C, Pigny, P, Maurage, C. A, Rouaix-Emery, N, Stojkovic, T, Cuisset, J. M, Millaire, A, Lascols, O, Vermersch, P, Wemeau, J. L, Capeau, J, Vigouroux, C
Published in The journal of clinical endocrinology and metabolism (01.11.2004)
Published in The journal of clinical endocrinology and metabolism (01.11.2004)
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Journal Article
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation
Yanagisawa, A, Bouchet, C, Van den Bergh, P Y K, Cuisset, J-M, Viollet, L, Leturcq, F, Romero, N B, Quijano-Roy, S, Fardeau, M, Seta, N, Guicheney, P
Published in Neurology (18.09.2007)
Published in Neurology (18.09.2007)
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Journal Article
Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal Charcot-Marie-Tooth neuropathy (AR-CMT2)
Tiffreau, V, Allart, E, Dangleterre, C, Boutry, N, Petit, F, Cuisset, J M, Thevenon, A
Published in European journal of physical and rehabilitation medicine (01.06.2015)
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Published in European journal of physical and rehabilitation medicine (01.06.2015)
Journal Article
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy
Goemans, Nathalie, Mercuri, Eugenio, Belousova, Elena, Komaki, Hirofumi, Dubrovsky, Alberto, McDonald, Craig M., Kraus, John E., Lourbakos, Afrodite, Lin, Zhengning, Campion, Giles, Wang, Susanne X., Campbell, Craig, Araujo, A., Bertini, E., Born, P., Cances, C., Chabrol, B., Chae, J.-H., Colomer Oferil, J., Comi, G.P., Cuisset, J.-M., D'Anjou, G., Desguerre, I., Erazo Torricelli, R., Escobar, R., Feder, D., Ferlini, A., Giugliani, R., Henricson, E., Herczegfalvi, A., Jong, Y.-J., Kimura, S., Kirschner, J.-B., Kleinsteuber, K., Kostera-Pruszczyk, A., Kudr, M., Mueller-Felber, W., Niks, E.H., Ogata, K., Palermo, C., Pane, M., Pascual, I., Pereon, Y., Raskin, S., Rasmussen, M., Reed, U., Schara, U., Selby, K., Sobreira, C., Takeshima, Y., Vilchez Padilla, J.J., Vita, G., Vondracek, P., Wiegand, G., Wilichowski, E.
Published in Neuromuscular disorders : NMD (01.01.2018)
Published in Neuromuscular disorders : NMD (01.01.2018)
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Journal Article
Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
McDonald, C, Meier, T, Voit, T, Schara, U, Straathof, C, D'Angelo, M, Bernert, G, Cuisset, J, Finkel, R, Goemans, N, Rummey, C, Leinonen, M, Spagnolo, P, Buyse, G
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy
Buyse, G, Voit, T, Schara, U, Straathof, C, D'Angelo, M, Bernert, G, Cuisset, J, Finkel, R, Goemans, N, Rummey, C, Leinonen, M, Mayer, O, Spagnolo, P, Meier, T, McDonald, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
A multinational, randomized, double-blind, placebo-controlled Phase 2 study to assess safety and efficacy of olesoxime in Type 2 or non-ambulatory Type 3 spinal muscular atrophy
Buchbjerg, J, Bertini, E, Dessaud, E, Mercuri, E, Muntoni, F, Kirschner, J, Reid, C, Lusakowska, A, Comi, G.P, Cuisset, J.-M, Abitbol, J.-L, Scherrer, B, Vianna, E, van der Pol, W.L, Vuillerot, C, Fontoura, P, Blaettler, T
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA
Chabanon, A, Pereon, Y, Daron, A, Cances, C, Vuillerot, C, Fontaine, S, Goemans, N, De Waele, L, Laugel, V, Cuisset, J, Schara, U, Gangfuss, A, Gidaro, T, Gargaun, E, Marquet, A, Villeret, M, Phelep, A, Annoussamy, M, Servais, L
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy
Seferian, A, Quicke, G, Gidaro, T, Gargaun, E, Gasnier, E, Pereon, Y, Daron, A, Cances, C, Vuillerot, C, Goemans, N, Laugel, V, Cuisset, J, Schara, U, Marquet, A, Chabanon, A, Annoussamy, M, Vissiere, D, Servais, L
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
Annoussamy, M, Lilien, C, Gidaro, T, Gargaun, E, Chê, V, Schara, U, Gangfuss, A, Daron, A, Cuisset, J, Mayer, M, Arnal, J, Hernandez, A, Vuillerot, C, Fontaine, S, Biancalana, V, Buj-Bello, A, Hogrel, J, Landy, H, Servais, L
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
The use of a hand-held device (ASMA-1) for home-based monitoring of respiratory function changes in pediatric and adolescent patients with Duchenne muscular dystrophy
Meier, T, Rummey, C, Leinonen, M, Voit, T, Schara, U, Straathof, C, D'Angelo, M, Bernert, G, Cuisset, J, Finkel, R, Goemans, N, McDonald, C, Buyse, G
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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