Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial
Bertini, Enrico, Prof, Dessaud, Eric, PhD, Mercuri, Eugenio, Prof, Muntoni, Francesco, Prof, Kirschner, Janbernd, Prof, Reid, Carol, PhD, Lusakowska, Anna, MD, Comi, Giacomo P, Prof, Cuisset, Jean-Marie, MD, Abitbol, Jean-Louis, MD, Scherrer, Bruno, PhD, Ducray, Patricia Sanwald, PhD, Buchbjerg, Jeppe, MSc, Vianna, Eduardo, PhD, van der Pol, W Ludo, MD, Vuillerot, Carole, MD, Blaettler, Thomas, MD, Fontoura, Paulo, MD
Published in Lancet neurology (01.07.2017)
Published in Lancet neurology (01.07.2017)
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Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation
Morin, Gilles, Biancalana, Valérie, Echaniz‐Laguna, Andoni, Noury, Jean‐Baptiste, Lornage, Xavière, Moggio, Maurizio, Ripolone, Michela, Violano, Raffaella, Marcorelles, Pascale, Maréchal, Denis, Renaud, Florence, Maurage, Claude‐Alain, Tard, Céline, Cuisset, Jean‐Marie, Laporte, Jocelyn, Böhm, Johann
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study
Chabanon, Aurélie, Seferian, Andreea Mihaela, Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Cuisset, Jean-Marie, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Gilabert, Stéphanie, Hogrel, Jean-Yves, Baudin, Pierre-Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda Pax, Hellbach, Nicole, Seabrook, Timothy, Toledano, Elie, Annoussamy, Mélanie, Servais, Laurent
Published in PloS one (26.07.2018)
Published in PloS one (26.07.2018)
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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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ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan
Gerin, Isabelle, Ury, Benoît, Breloy, Isabelle, Bouchet-Seraphin, Céline, Bolsée, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, Bommer, Guido T.
Published in Nature communications (19.05.2016)
Published in Nature communications (19.05.2016)
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De novo LMNA mutations cause a new form of congenital muscular dystrophy
Quijano-Roy, Susana, Mbieleu, Blaise, Bönnemann, Carsten G., Jeannet, Pierre-Yves, Colomer, Jaume, Clarke, Nigel F., Cuisset, Jean-Marie, Roper, Helen, De Meirleir, Linda, D'Amico, Adele, Ben Yaou, Rabah, Nascimento, Andrés, Barois, Annie, Demay, Laurence, Bertini, Enrico, Ferreiro, Ana, Sewry, Caroline A., Romero, Norma B., Ryan, Monique, Muntoni, Francesco, Guicheney, Pascale, Richard, Pascale, Bonne, Gisèle, Estournet, Brigitte
Published in Annals of neurology (01.08.2008)
Published in Annals of neurology (01.08.2008)
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New insights into CC2D2A-related Joubert syndrome
Harion, Madeleine, Qebibo, Leila, Riquet, Audrey, Rougeot, Christelle, Afenjar, Alexandra, Garel, Catherine, Louha, Malek, Lacaze, Emmanuelle, Audic-Gérard, Frédérique, Barth, Magali, Berquin, Patrick, Bonneau, Dominique, Bourdain, Frédéric, Busa, Tiffany, Colin, Estelle, Cuisset, Jean-Marie, Des Portes, Vincent, Dorison, Nathalie, Francannet, Christine, Héron, Bénédicte, Laroche, Cécile, Lebrun, Marine, Métreau, Julia, Odent, Sylvie, Pasquier, Laurent, Trujillo, Yaumara Perdomo, Perrin, Laurine, Pinson, Lucile, Rivier, François, Sigaudy, Sabine, Thauvin-Robinet, Christel, Louvier, Ulrike Walther, Labayle, Olivier, Rodriguez, Diana, Valence, Stéphanie, Burglen, Lydie
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
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Muscle Activation during Gait in Children with Duchenne Muscular Dystrophy
Ropars, Juliette, Lempereur, Mathieu, Vuillerot, Carole, Tiffreau, Vincent, Peudenier, Sylviane, Cuisset, Jean-Marie, Pereon, Yann, Leboeuf, Fabien, Delporte, Ludovic, Delpierre, Yannick, Gross, Raphaël, Brochard, Sylvain
Published in PloS one (13.09.2016)
Published in PloS one (13.09.2016)
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Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1
DOUNIOL, MARIE, JACQUETTE, AURÉLIA, COHEN, DAVID, BODEAU, NICOLAS, RACHIDI, LINDA, ANGEARD, NATHALIE, CUISSET, JEAN-MARIE, VALLÉE, LOUIS, EYMARD, BRUNO, PLAZA, MONIQUE, HÉRON, DELPHINE, GUILÉ, JEAN-MARC
Published in Developmental medicine and child neurology (01.10.2012)
Published in Developmental medicine and child neurology (01.10.2012)
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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, Jérôme D, Vovan, Catherine, Gerard, Laurene, Mégarbané, André, Urtizberea, Jon Andoni, Bellance, Remi, Barnérias, Christine, David, Albert, Eymard, Bruno, Fradin, Melanie, Manel, Véronique, Sacconi, Sabrina, Tiffreau, Vincent, Zagnoli, Fabien, Cuisset, Jean-Marie, Salort-Campana, Emmanuelle, Attarian, Shahram, Bernard, Rafaëlle, Lévy, Nicolas, Magdinier, Frederique
Published in Journal of medical genetics (01.09.2019)
Published in Journal of medical genetics (01.09.2019)
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Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial
Seferian, Andreea Mihaela, Moraux, Amélie, Annoussamy, Mélanie, Canal, Aurélie, Decostre, Valérie, Diebate, Oumar, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Deconinck, Nicolas, Van Parys, Frauke, Vereecke, Wendy, Wittevrongel, Sylvia, Mayer, Michèle, Maincent, Kim, Desguerre, Isabelle, Thémar-Noël, Christine, Cuisset, Jean-Marie, Tiffreau, Vincent, Denis, Severine, Jousten, Virginie, Quijano-Roy, Susana, Voit, Thomas, Hogrel, Jean-Yves, Servais, Laurent
Published in PloS one (02.02.2015)
Published in PloS one (02.02.2015)
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Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients
Meyer, Pierre, Notarnicola, Cécile, Meli, Albano C, Matecki, Stefan, Hugon, Gérald, Salvador, Jérémy, Khalil, Mirna, Féasson, Léonard, Cances, Claude, Cottalorda, Jérôme, Desguerre, Isabelle, Cuisset, Jean-Marie, Sabouraud, Pascal, Lacampagne, Alain, Chevassus, Hugues, Rivier, François, Carnac, Gilles
Published in International journal of molecular sciences (30.11.2021)
Published in International journal of molecular sciences (30.11.2021)
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Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion
Echaniz-Laguna, Andoni, Cuisset, Jean-Marie, Guyant-Marechal, Lucie, Aubourg, Patrick, Kremer, Laurent, Baaloul, Naziha, Verloes, Alain, Beladgham, Kouider, Perrot, Jimmy, Francou, Bruno, Latour, Philippe
Published in Neurogenetics (2020)
Published in Neurogenetics (2020)
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Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv)
Wallach, Elisabeth, Ehlinger, Virginie, Biotteau, Maelle, Walther-Louvier, Ulrike, Péréon, Yann, Vuillerot, Carole, Fontaine, Stephanie, Sabouraud, Pascal, Espil-Taris, Caroline, Cuisset, Jean-Marie, Laugel, Vincent, Baudou, Eloïse, Arnaud, Catherine, Cances, Claude
Published in BMC pediatrics (15.11.2023)
Published in BMC pediatrics (15.11.2023)
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Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy
Buyse, Gunnar M., Voit, Thomas, Schara, Ulrike, Straathof, Chiara S.M., D'Angelo, Maria Grazia, Bernert, Günther, Cuisset, Jean‐Marie, Finkel, Richard S., Goemans, Nathalie, Rummey, Christian, Leinonen, Mika, Mayer, Oscar H., Spagnolo, Paolo, Meier, Thomas, McDonald, Craig M.
Published in Pediatric pulmonology (01.04.2017)
Published in Pediatric pulmonology (01.04.2017)
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Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
Lornage, Xavière, Malfatti, Edoardo, Chéraud, Chrystel, Schneider, Raphaël, Biancalana, Valérie, Cuisset, Jean‐Marie, Garibaldi, Matteo, Eymard, Bruno, Fardeau, Michel, Boland, Anne, Deleuze, Jean‐François, Thompson, Julie, Carlier, Robert‐Yves, Böhm, Johann, Romero, Norma B., Laporte, Jocelyn
Published in Annals of neurology (01.03.2017)
Published in Annals of neurology (01.03.2017)
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Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy
Huin, Vincent, Strubi-Vuillaume, Isabelle, Dujardin, Kathy, Brion, Marine, Delliaux, Marie, Dellacherie, Delphine, Cuvellier, Jean-Christophe, Cuisset, Jean-Marie, Riquet, Audrey, Moreau, Caroline, Defebvre, Luc, Sablonnière, Bernard, Devos, David
Published in Parkinsonism & related disorders (01.12.2017)
Published in Parkinsonism & related disorders (01.12.2017)
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Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial
Seferian, Andreea Mihaela, Moraux, Amélie, Canal, Aurélie, Decostre, Valérie, Diebate, Oumar, Le Moing, Anne Gaëlle, Gidaro, Teresa, Deconinck, Nicolas, Van Parys, Frauke, Vereecke, Wendy, Wittevrongel, Sylvia, Annoussamy, Mélanie, Mayer, Michèle, Maincent, Kim, Cuisset, Jean-Marie, Tiffreau, Vincent, Denis, Severine, Jousten, Virginie, Quijano-Roy, Susana, Voit, Thomas, Hogrel, Jean-Yves, Servais, Laurent
Published in PloS one (10.04.2015)
Published in PloS one (10.04.2015)
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The lung is involved in juvenile dermatomyositis
Pouessel, Guillaume, Deschildre, Antoine, Le Bourgeois, Muriel, Cuisset, Jean-Marie, Catteau, Benoit, Karila, Chantal, Nève, Véronique, Thumerelle, Caroline, Quartier, Pierre, Tillie-Leblond, Isabelle
Published in Pediatric pulmonology (01.10.2013)
Published in Pediatric pulmonology (01.10.2013)
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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
Héron, Bénédicte, Valayannopoulos, Vassili, Baruteau, Julien, Chabrol, Brigitte, Ogier, Hélène, Latour, Philippe, Dobbelaere, Dries, Eyer, Didier, Labarthe, François, Maurey, Hélène, Cuisset, Jean-Marie, de Villemeur, Thierry Billette, Sedel, Frédéric, Vanier, Marie T
Published in Orphanet journal of rare diseases (07.06.2012)
Published in Orphanet journal of rare diseases (07.06.2012)
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