Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, oph...

Por Cuisset, Jean-Marie, Sukno, S., Trauffler, A., Latour, P., Dobbelaere, D., Michaud, L., Vallée, L.
Publicado no J Med Case Rep (2016)

Lack of Functional Benefit with Glutamine versus Placebo in Duchenne Muscular Dystrophy: A Randomized Crossover Trial

Por Mok, Elise, Letellier, Guy, Cuisset, Jean-Marie, Denjean, André, Gottrand, Frédéric, Alberti, Corinne, Hankard, Régis
Publicado em 2009

Muscle Activation during Gait in Children with Duchenne Muscular Dystrophy

Por 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
Publicado no PLoS One (2016)

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Por 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, Sedel Frédéric, Vanier Marie T
Publicado em 2012-06-01

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Por 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
Publicado em 2012

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Por 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.
Publicado no Nat Commun (2016)

Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Por 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.
Publicado no Pediatr Pulmonol (2016)

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype

Por Servais, Laurent, Montus, Marie, Guiner, Caroline Le, Ben Yaou, Rabah, Annoussamy, Mélanie, Moraux, Amélie, Hogrel, Jean-Yves, Seferian, Andreea M., Zehrouni, Karima, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Vanhulle, Catherine, Laugel, Vincent, Butoianu, Nina, Cuisset, Jean-Marie, Sabouraud, Pascal, Cances, Claude, Klein, Andrea, Leturcq, France, Moullier, Philippe, Voit, Thomas
Publicado no J Neuromuscul Dis (2015)

Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial

Por 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
Publicado no PLoS One (2015)

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study

Por 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
Publicado no PLoS One (2018)

Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial

Por 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
Publicado no PLoS One (2015)

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

Por Cheillan, David, Curt, Marie Joncquel-Chevalier, Briand, Gilbert, Salomons, Gajja S, Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Portes, Vincent Des, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Tardieu, Marc, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph
Publicado em 2012

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

Por Caubit, Xavier, Gubellini, Paolo, Andrieux, Joris, Roubertoux, Pierre L., Metwaly, Mehdi, Jacq, Bernard, Fatmi, Ahmed, Had-Aissouni, Laurence, Kwan, Kenneth Y., Salin, Pascal, Carlier, Michèle, Liedén, Agne, Rudd, Eva, Shinawi, Marwan, Vincent-Delorme, Catherine, Cuisset, Jean-Marie, Lemaitre, Marie-Pierre, Abderrehamane, Fatimetou, Duban, Bénédicte, Lemaitre, Jean-François, Woolf, Adrian S., Bockenhauer, Detlef, Severac, Dany, Dubois, Emeric, Zhu, Ying, Sestan, Nenad, Garratt, Alistair N., Goff, Lydia Kerkerian-Le, Fasano, Laurent
Publicado no Nat Genet (2016)

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Por Jacquemont, Sébastien, Reymond, Alexandre, Zufferey, Flore, Harewood, Louise, Walters, Robin G., Kutalik, Zoltán, Martinet, Danielle, Shen, Yiping, Valsesia, Armand, Beckmann, Noam D., Thorleifsson, Gudmar, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, De Leeuw, Nicole, De Vries, Bert B. A., Esko, Tõnu, Fernandez, Bridget A., Fernández-Aranda, Fernando, Fernández-Real, José Manuel, Gratacòs, Mònica, Guilmatre, Audrey, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Kooy, Frank R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Van Haelst, Mieke M., Villatoro Gomez, Sergi, Walha, Faida, Wu, Bai-Lin, Yu, Yongguo, Aboura, Azzedine, Addor, Marie-Claude, Alembik, Yves, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bednarek, Nathalie, Béna, Frédérique, Bergmann, Sven, Beri, Mylène, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Bottani, Armand, Boute, Odile, Brunner, Han G., Cailley, Dorothée, Callier, Patrick, Chiesa, Jean, Chrast, Jacqueline, Coin, Lachlan, Coutton, Charles, Cuisset, Jean-Marie, Cuvellier, Jean-Christophe, David, Albert, De Freminville, Bénédicte, Delobel, Bruno, Delrue, Marie-Ange, Demeer, Bénédicte, Descamps, Dominique, Didelot, Gérard, Dieterich, Klaus, Disciglio, Vittoria, Doco-Fenzy, Martine, Drunat, Séverine, Duban-Bedu, Bénédicte, Dubourg, Christèle, El-Sayed Moustafa, Julia S., Elliott, Paul, Faas, Brigitte H. W., Faivre, Laurence, Faudet, Anne, Fellmann, Florence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gerard, Marion, Gieger, Christian, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Guichet, Agnès, Guillin, Olivier, Hartikainen, Anna-Liisa, Heron, Délphine, Hippolyte, Loyse, Holder, Muriel, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Joly Helas, Géraldine, Jonveaux, Philippe, Kaksonen, Satu, Keren, Boris, Kloss-Brandstätter, Anita, Knoers, Nine V. A. M., Koolen, David A., Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Landais, Emilie, Lapi, Elisabetta, Layet, Valérie, Legallic, Solenn, Leheup, Bruno, Leube, Barbara, Lewis, Suzanne, Lucas, Josette, Macdermot, Kay D., Magnusson, Pall, Marshall, Christian R., Mathieu-Dramard, Michèle, Mccarthy, Mark I., Meitinger, Thomas, Antonietta Mencarelli, Maria, Merla, Giuseppe, Moerman, Alexandre, Mooser, Vincent, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Coumba Ndiaye, Ndeye, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Pfundt, Rolph, Plessis, Ghislaine, Rajcan-Separovic, Evica, Paolo Ramelli, Gian, Rauch, Anita, Ravazzolo, Roberto, Reis, Andre, Renieri, Alessandra, Richart, Cristobal, Ried, Janina S., Rieubland, Claudine, Roberts, Wendy, Roetzer, Katharina M., Rooryck, Caroline, Rossi, Massimiliano, Saemundsen, Evald, Satre, Véronique, Schurmann, Claudia, Sigurdsson, Engilbert, Stavropoulos, Dimitri J., Stefansson, Hreinn, Tengström, Carola, Thorsteinsdóttir, Unnur, Tinahones, Francisco J., Touraine, Renaud, Vallée, Louis, Van Binsbergen, Ellen, Van Der Aa, Nathalie, Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-Van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Zwolinksi, Simon, Andrieux, Joris, Estivill, Xavier, Gusella, James F., Gustafsson, Omar, Metspalu, Andres, Scherer, Stephen W., Stefansson, Kari, Blakemore, Alexandra I. F., Beckmann, Jacques S., Froguel, Philippe
Publicado em 2011