Результаты поиска - Nelson, Isabelle

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy по Azibani, Feriel, Brull, Astrid, Arandel, Ludovic, Beuvin, Maud, Nelson, Isabelle, Jollet, Arnaud, Ziat, Esma, Prudhon, Bernard, Benkhelifa-Ziyyat, Sofia, Bitoun, Marc, Lorain, Stéphanie, Bonne, Gisèle, Bertrand, Anne T.

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A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1 по AME van der Beek, Nadine, Nelson, Isabelle, Froissart, Roseline, Levade, Thierry, Garcia, Virginie, Lacene, Emmanuelle, Boland, Anne, Masson, Cécile, Romero, Norma B., Stojkovic, Tanya, Bonne, Gisèle, Béhin, Anthony

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Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases по Nelson, Isabelle, Stojkovic, Tanya, Allamand, Valérie, Leturcq, France, Bécane, Henri-Marc, Babuty, Dominique, Toutain, Annick, Béroud, Christophe, Richard, Pascale, Romero, Norma B., Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle

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Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies по Vignier, Nicolas, Amor, Fatima, Fogel, Paul, Duvallet, Angélique, Poupiot, Jérôme, Charrier, Sabine, Arock, Michel, Montus, Marie, Nelson, Isabelle, Richard, Isabelle, Carrier, Lucie, Servais, Laurent, Voit, Thomas, Bonne, Gisèle, Israeli, David

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A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy по Rahman, Shamima, Taanman, Jan-Willem, Cooper, J. Mark, Nelson, Isabelle, Hargreaves, Ian, Meunier, Brigitte, Hanna, Michael G, García, José J., Capaldi, Roderick A., Lake, Brian D., Leonard, James V., Schapira, Anthony H. V.

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Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES по De Ridder, Willem, Nelson, Isabelle, Asselbergh, Bob, De Paepe, Boel, Beuvin, Maud, Ben Yaou, Rabah, Masson, Cécile, Boland, Anne, Deleuze, Jean-François, Maisonobe, Thierry, Eymard, Bruno, Symoens, Sofie, Schindler, Roland, Brand, Thomas, Johnson, Katherine, Töpf, Ana, Straub, Volker, De Jonghe, Peter, De Bleecker, Jan L., Bonne, Gisèle, Baets, Jonathan

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Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency по Ben Yaou, Rabah, Hubert, Aurélie, Nelson, Isabelle, Dahlqvist, Julia R., Gaist, David, Streichenberger, Nathalie, Beuvin, Maud, Krahn, Martin, Petiot, Philippe, Parisot, Frédéric, Michel, Fabrice, Malfatti, Edoardo, Romero, Norma, Carlier, Robert Yves, Eymard, Bruno, Labrune, Philippe, Duno, Morten, Krag, Thomas, Cerino, Mathieu, Bartoli, Marc, Bonne, Gisèle, Vissing, John, Laforet, Pascal, Petit, François M.

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Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing по Nectoux, Juliette, de Cid, Rafael, Baulande, Sylvain, Leturcq, France, Urtizberea, Jon Andoni, Penisson-Besnier, Isabelle, Nadaj-Pakleza, Aleksandra, Roudaut, Carinne, Criqui, Audrey, Orhant, Lucie, Peyroulan, Delphine, Ben Yaou, Raba, Nelson, Isabelle, Cobo, Anna Maria, Arné-Bes, Marie-Christine, Uro-Coste, Emmanuelle, Nitschke, Patrick, Claustres, Mireille, Bonne, Gisèle, Lévy, Nicolas, Chelly, Jamel, Richard, Isabelle, Cossée, Mireille

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INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH по Hathazi, Denisa, Cox, Dan, D'Amico, Adele, Tasca, Giorgio, Charlton, Richard, Carlier, Robert-Yves, Baumann, Jennifer, Kollipara, Laxmikanth, Zahedi, René P, Feldmann, Ingo, Deleuze, Jean-Francois, Torella, Annalaura, Cohn, Ronald, Robinson, Emily, Ricci, Francesco, Jungbluth, Heinz, Fattori, Fabiana, Boland, Anne, O’Connor, Emily, Horvath, Rita, Barresi, Rita, Lochmüller, Hanns, Urtizberea, Andoni, Jacquemont, Marie-Line, Nelson, Isabelle, Swan, Laura, Bonne, Gisèle, Roos, Andreas

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GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome по Foley, A. Reghan, Zou, Yaqun, Dunford, James E., Rooney, Jachinta, Chandra, Goutam, Xiong, Hui, Straub, Volker, Voit, Thomas, Romero, Norma, Donkervoort, Sandra, Hu, Ying, Markello, Thomas, Horn, Adam, Qebibo, Leila, Dastgir, Jahannaz, Meilleur, Katherine G., Finkel, Richard S., Fan, Yanbin, Mamchaoui, Kamel, Duguez, Stephanie, Nelson, Isabelle, Laporte, Jocelyn, Santi, Mariarita, Malfatti, Edoardo, Maisonobe, Thierry, Touraine, Philippe, Hirano, Michio, Hughes, Imelda, Bushby, Kate, Oppermann, Udo, Böhm, Johann, Jaiswal, Jyoti K., Stojkovic, Tanya, Bönnemann, Carsten G.

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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea по Bauché, Stéphanie, O’Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Céline, Bouzidi, Nassima, Topf, Ana, Lacène, Emmanuelle, Remerand, Ganaelle, Beaufrere, Anne-Marie, Pebrel-Richard, Céline, Thevenon, Julien, El Chehadeh-Djebbar, Salima, Faivre, Laurence, Duffourd, Yannis, Ricci, Federica, Mongini, Tiziana, Fiorillo, Chiara, Astrea, Guja, Burloiu, Carmen Magdalena, Butoianu, Niculina, Sandu, Carmen, Servais, Laurent, Bonne, Gisèle, Nelson, Isabelle, Desguerre, Isabelle, Nougues, Marie-Christine, Bœuf, Benoit, Romero, Norma, Laporte, Jocelyn, Boland, Anne, Lechner, Doris, Deleuze, Jean-François, Fontaine, Bertrand, Strochlic, Laure, Lochmuller, Hanns, Eymard, Bruno, Mayer, Michèle, Nicole, Sophie

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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy по Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B., Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G., Taylor, J. Paul

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A form of muscular dystrophy associated with pathogenic variants in JAG2 по Coppens, Sandra, Barnard, Alison M., Puusepp, Sanna, Pajusalu, Sander, Õunap, Katrin, Vargas-Franco, Dorianmarie, Bruels, Christine C., Donkervoort, Sandra, Pais, Lynn, Chao, Katherine R., Goodrich, Julia K., England, Eleina M., Weisburd, Ben, Ganesh, Vijay S., Gudmundsson, Sanna, O’Donnell-Luria, Anne, Nigul, Mait, Ilves, Pilvi, Mohassel, Payam, Siddique, Teepu, Milone, Margherita, Nicolau, Stefan, Maroofian, Reza, Houlden, Henry, Hanna, Michael G., Quinlivan, Ros, Beiraghi Toosi, Mehran, Ghayoor Karimiani, Ehsan, Costagliola, Sabine, Deconinck, Nicolas, Kadhim, Hazim, Macke, Erica, Lanpher, Brendan C., Klee, Eric W., Łusakowska, Anna, Kostera-Pruszczyk, Anna, Hahn, Andreas, Schrank, Bertold, Nishino, Ichizo, Ogasawara, Masashi, El Sherif, Rasha, Stojkovic, Tanya, Nelson, Isabelle, Bonne, Gisèle, Cohen, Enzo, Boland-Augé, Anne, Deleuze, Jean-François, Meng, Yao, Töpf, Ana, Vilain, Catheline, Pacak, Christina A., Rivera-Zengotita, Marie L., Bönnemann, Carsten G., Straub, Volker, Handford, Penny A., Draper, Isabelle, Walter, Glenn A., Kang, Peter B.

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A form of muscular dystrophy associated with pathogenic variants in JAG2 по Coppens, Sandra, Barnard, Alison M., Puusepp, Sanna, Pajusalu, Sander, Õunap, Katrin, Vargas-Franco, Dorianmarie, Bruels, Christine C., Donkervoort, Sandra, Pais, Lynn, Chao, Katherine R., Goodrich, Julia K., England, Eleina M., Weisburd, Ben, Ganesh, Vijay S., Gudmundsson, Sanna, O’Donnell-Luria, Anne, Nigul, Mait, Ilves, Pilvi, Mohassel, Payam, Siddique, Teepu, Milone, Margherita, Nicolau, Stefan, Maroofian, Reza, Houlden, Henry, Hanna, Michael G., Quinlivan, Ros, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Costagliola, Sabine, Deconinck, Nicolas, Kadhim, Hazim, Macke, Erica, Lanpher, Brendan C., Klee, Eric W., Łusakowska, Anna, Kostera-Pruszczyk, Anna, Hahn, Andreas, Schrank, Bertold, Nishino, Ichizo, Ogasawara, Masashi, El Sherif, Rasha, Stojkovic, Tanya, Nelson, Isabelle, Bonne, Gisèle, Cohen, Enzo, Boland-Augé, Anne, Deleuze, Jean-François, Meng, Yao, Töpf, Ana, Vilain, Catheline, Pacak, Christina A., Rivera-Zengotita, Marie L., Bönnemann, Carsten G., Straub, Volker, Handford, Penny A., Draper, Isabelle, Walter, Glenn A., Kang, Peter B.

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