Ngā hua rapu - Sabouraud, Pascal

Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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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