Søgeresultater - Sabouraud, Pascal

Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies af Viprey, Mathilde, Trang, Ha, Pomedio, Michaël, Bessaci-Kabouya, Katia, Sabouraud, Pascal, Cheliout-Heraut, Fawzia, Mauran, Pierre

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Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients af 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

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

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Ataxia with Vitamin E Deficiency: Refinement of Genetic Localization and Analysis of Linkage Disequilibrium by Using New Markers in 14 Families af Doerflinger, Nathalie, Linder, Catherine, Ouahchi, Karim, Gyapay, Gabor, Weissenbach, Jean, Le Paslier, Denis, Rigault, Philippe, Belal, Samir, Hamida, Christiane Ben, Hentati, Faycal, Hamida, Mongi Ben, Pandolfo, Massimo, DiDonato, Stephano, Sokol, Ronald, Kayden, Herbert, Landrieu, Pierre, Durr, Alexandra, Brice, Alexis, Goutières, Françoise, Kohlschütter, Alfried, Sabouraud, Pascal, Benomar, Ali, Yahyaoui, Mohamed, Mandel, Jean-Louis, Koenig, Michel

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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients af Torelli, Silvia, Scaglioni, Domenic, Sardone, Valentina, Ellis, Matthew J, Domingos, Joana, Jones, Adam, Feng, Lucy, Chambers, Darren, Eastwood, Deborah M, Leturcq, France, Yaou, Rabah Ben, Urtizberea, Andoni, Sabouraud, Pascal, Barnerias, Christine, Stojkovic, Tanya, Ricci, Enzo, Beuvin, Maud, Bonne, Gisele, Sewry, Caroline A, Willis, Tracey, Kulshrestha, Richa, Tasca, Giorgio, Phadke, Rahul, Morgan, Jennifer E, Muntoni, Francesco

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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports af Hully, Marie, Barnerias, Christine, Chabalier, Delphine, Le Guen, Sophie, Germa, Virginie, Deladriere, Elodie, Vanhulle, Catherine, Cuisset, Jean-Marie, Chabrol, Brigitte, Cances, Claude, Vuillerot, Carole, Espil, Caroline, Mayer, Michele, Nougues, Marie-Christine, Sabouraud, Pascal, Lefranc, Jeremie, Laugel, Vincent, Rivier, Francois, Louvier, Ulrike Walther, Durigneux, Julien, Napuri, Sylvia, Sarret, Catherine, Renouil, Michel, Masurel, Alice, Viallard, Marcel-Louis, Desguerre, Isabelle

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing af Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent

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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients af Leroy, Camille, Landais, Emilie, Briault, Sylvain, David, Albert, Tassy, Olivier, Gruchy, Nicolas, Delobel, Bruno, Grégoire, Marie-José, Leheup, Bruno, Taine, Laurence, Lacombe, Didier, Delrue, Marie-Ange, Toutain, Annick, Paubel, Agathe, Mugneret, Francine, Thauvin-Robinet, Christel, Arpin, Stéphanie, Le Caignec, Cedric, Jonveaux, Philippe, Beri, Mylène, Leporrier, Nathalie, Motte, Jacques, Fiquet, Caroline, Brichet, Olivier, Mozelle-Nivoix, Monique, Sabouraud, Pascal, Golovkine, Nathalie, Bednarek, Nathalie, Gaillard, Dominique, Doco-Fenzy, Martine

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Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study af Audic, Frédérique, de la Banda, Marta Gomez Garcia, Bernoux, Delphine, Ramirez-Garcia, Paola, Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Cuisset, Jean-Marie, Cances, Claude, Richelme, Christian, Vuillerot, Carole, Laugel, Vincent, Ropars, Juliette, Altuzarra, Cécilia, Espil-Taris, Caroline, Walther-Louvier, Ulrike, Sabouraud, Pascal, Chouchane, Mondher, Vanhulle, Catherine, Trommsdorff, Valérie, Pervillé, Anne, Testard, Hervé, Lagrue, Emmanuelle, Sarret, Catherine, Avice, Anne-Laude, Beze-Beyrie, Pierre, Pauly, Vanessa, Quijano-Roy, Susana, Chabrol, Brigitte, Desguerre, Isabelle

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International retrospective natural history study of LMNA-related congenital muscular dystrophy af Ben Yaou, Rabah, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D’Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler M, Gómez-Andrés, David, Reghan Foley, A, Quijano-Roy, Susana, Bönnemann, Carsten G, Bonne, Gisèle

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