Rezultaty - Nelson, Isabelle

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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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