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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi, Karim, Ben Yaou, Rabah, Gandjbakhch, Estelle, Anselme, Frédéric, Gossios, Thomas, Lakdawala, Neal K., Stalens, Caroline, Sacher, Frédéric, Babuty, Dominique, Trochu, Jean-Noel, Moubarak, Ghassan, Savvatis, Kostantinos, Porcher, Raphaël, Laforêt, Pascal, Fayssoil, Abdallah, Marijon, Eloi, Stojkovic, Tanya, Béhin, Anthony, Leonard-Louis, Sarah, Labombarda, Fabien, Richard, Pascale, Metay, Corinne, Quijano-Roy, Susana, Dabaj, Ivana, Klug, Didier, Chevalier, Philippe, Ambrosi, Pierre, Salort, Emmanuelle, Sadoul, Nicolas, Waintraub, Xavier, Chikhaoui, Khadija, Combes, Nicolas, Maury, Philippe, Sellal, Jean-Marc, Tedrow, Usha B., Kalman, Jonathan M., Vohra, Jitendra, Androulakis, Alexander F.A., Zeppenfeld, Katja, Thompson, Tina, Barnerias, Christine, Bécane, Henri-Marc, Bieth, Eric, Boccara, Franck, Bonnet, Damien, Bouhour, Françoise, Boulé, Stéphane, Brehin, Anne-Claire, Chapon, Françoise, Cintas, Pascal, Cuisset, Jean-Marie, Davy, Jean-Marc, De Sandre-Giovannoli, Annachiara, Demurger, Florence, Desguerre, Isabelle, Dieterich, Klaus, Durigneux, Julien, Echaniz-Laguna, Andoni, Eschalier, Romain, Ferrer, Xavier, Francannet, Christine, Fradin, Mélanie, Gaborit, Bénédicte, Gay, Arnaud, Hagège, Albert, Isapof, Arnaud, Jeru, Isabelle, Lagrue, Emmanuelle, Lamblin, Nicolas, Lascols, Olivier, Lazarus, Arnaud, Leturcq, France, Levy, Nicolas, Magot, Armelle, Manel, Véronique, Martins, Raphaël, Mercier, Sandra, Michaud, Maud, Muchir, Antoine, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Petiot, Philippe, Petit, Florence, Praline, Julien, Rollin, Anne, Sabouraud, Pascal, Schaeffer, Stéphane, Taithe, Frederic, Tard, Céline, Tiffreau, Vincent, Toutain, Annick, Vatier, Camille, Walther-Louvier, Ulrike, Eymard, Bruno, Charron, Philippe, Vigouroux, Corinne, Bonne, Gisèle, Kumar, Saurabh, Elliott, Perry, Duboc, Denis
Published in Circulation (New York, N.Y.) (23.07.2019)
Published in Circulation (New York, N.Y.) (23.07.2019)
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Journal Article
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors
Bertrand, Anne T, Ziaei, Simindokht, Ehret, Camille, Duchemin, Hélène, Mamchaoui, Kamel, Bigot, Anne, Mayer, Michèle, Quijano-Roy, Susana, Desguerre, Isabelle, Lainé, Jeanne, Ben Yaou, Rabah, Bonne, Gisèle, Coirault, Catherine
Published in Journal of cell science (01.07.2014)
Published in Journal of cell science (01.07.2014)
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Journal Article
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Al Aqeel, Aida I., Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Diane, Ehmke, Nadja, Elbendary, Hasnaa M., Gorokhova, Svetlana, Héron, Delphine, Horn, Denise, James, Kiely, Keren, Boris, Kuechler, Alma, Ismail, Samira, Issa, Mahmoud Y., Marey, Isabelle, Mayer, Michèle, McEvoy-Venneri, Jennifer, Megarbane, Andre, Mignot, Cyril, Mohamed, Sarar, Nava, Caroline, Philip, Nicole, Ravix, Cecile, Rolfs, Arndt, Sadek, Abdelrahim Abdrabou, Segebrecht, Lara, Stanley, Valentina, Trautman, Camille, Valence, Stephanie, Villard, Laurent, Wieland, Thomas, Engels, Hartmut, Strom, Tim M., Zaki, Maha S., Gleeson, Joseph G., Lüdecke, Hermann-Josef, Bauer, Peter, Wieczorek, Dagmar
Published in Human genetics (01.09.2018)
Published in Human genetics (01.09.2018)
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Journal Article
Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial
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
Published in PloS one (02.02.2015)
Published in PloS one (02.02.2015)
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Journal Article
Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial
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
Published in PloS one (10.04.2015)
Published in PloS one (10.04.2015)
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Journal Article
A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus
Barateau, Alice, Vadrot, Nathalie, Vicart, Patrick, Ferreiro, Ana, Mayer, Michèle, Héron, Delphine, Vigouroux, Corinne, Buendia, Brigitte
Published in PloS one (26.01.2017)
Published in PloS one (26.01.2017)
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Journal Article
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
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
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
Web Resource
Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders
Bersanini, Chiara, Khirani, Sonia, Ramirez, Adriana, Lofaso, Frédéric, Aubertin, Guillaume, Beydon, Nicole, Mayer, Michèle, Maincent, Kim, Boulé, Michèle, Fauroux, Brigitte
Published in The European respiratory journal (01.05.2012)
Published in The European respiratory journal (01.05.2012)
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Journal Article
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina
Published in Human mutation (01.07.2014)
Published in Human mutation (01.07.2014)
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Journal Article
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
Henneke, Marco, Diekmann, Simone, Ohlenbusch, Andreas, Kaiser, Jens, Engelbrecht, Volkher, Kohlschütter, Alfried, Krätzner, Ralph, Madruga-Garrido, Marcos, Mayer, Michèle, Opitz, Lennart, Rodriguez, Diana, Rüschendorf, Franz, Schumacher, Johannes, Thiele, Holger, Thoms, Sven, Steinfeld, Robert, Nürnberg, Peter, Gärtner, Jutta
Published in Nature genetics (01.07.2009)
Published in Nature genetics (01.07.2009)
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Journal Article
Natural evolution of weight status in Duchenne muscular dystrophy: a retrospective audit
Martigne, Léonie, Salleron, Julia, Mayer, Michèle, Cuisset, Jean-Marie, Carpentier, Alain, Neve, Véronique, Tiffreau, Vincent, Guimber, Dominique, Gottrand, Frédéric
Published in British journal of nutrition (28.05.2011)
Published in British journal of nutrition (28.05.2011)
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Journal Article
Early onset collagen VI myopathies: Genetic and clinical correlations
Briñas, Laura, Richard, Pascale, Quijano-Roy, Susana, Gartioux, Corine, Ledeuil, Céline, Lacène, Emmanuelle, Makri, Samira, Ferreiro, Ana, Maugenre, Svetlana, Topaloglu, Haluk, Haliloglu, Göknur, Pénisson-Besnier, Isabelle, Jeannet, Pierre-Yves, Merlini, Luciano, Navarro, Carmen, Toutain, Annick, Chaigne, Denys, Desguerre, Isabelle, de Die-Smulders, Christine, Dunand, Murielle, Echenne, Bernard, Eymard, Bruno, Kuntzer, Thierry, Maincent, Kim, Mayer, Michèle, Plessis, Ghislaine, Rivier, François, Roelens, Filip, Stojkovic, Tanya, Lía Taratuto, Ana, Lubieniecki, Fabiana, Monges, Soledad, Tranchant, Christine, Viollet, Louis, Romero, Norma B., Estournet, Brigitte, Guicheney, Pascale, Allamand, Valérie
Published in Annals of neurology (01.10.2010)
Published in Annals of neurology (01.10.2010)
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Journal Article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
Monin, Marie-Lorraine, Mignot, Cyril, De Lonlay, Pascale, Héron, Bénédicte, Masurel, Alice, Mathieu-Dramard, Michèle, Lenaerts, Catherine, Thauvin, Christel, Gérard, Marion, Roze, Emmanuel, Jacquette, Aurélia, Charles, Perrine, de Baracé, Claire, Drouin-Garraud, Valérie, Van Kien, Philippe Khau, Cormier-Daire, Valérie, Mayer, Michèle, Ogier, Hélène, Brice, Alexis, Seta, Nathalie, Héron, Delphine
Published in Orphanet journal of rare diseases (11.12.2014)
Published in Orphanet journal of rare diseases (11.12.2014)
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Journal Article
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
Daoud, Fatma, Angeard, Nathalie, Demerre, Bénédicte, Martie, Itxaso, Benyaou, Rabah, Leturcq, France, Cossée, Mireille, Deburgrave, Nathalie, Saillour, Yoann, Tuffery, Sylvie, Urtizberea, Andoni, Toutain, Annick, Echenne, Bernard, Frischman, Martine, Mayer, Michèle, Desguerre, Isabelle, Estournet, Brigitte, Réveillère, Christian, Penisson-Besnier, Cuisset, Jean Marie, Kaplan, Jean Claude, Héron, Delphine, Rivier, François, Chelly, Jamel
Published in Human molecular genetics (15.10.2009)
Published in Human molecular genetics (15.10.2009)
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Journal Article
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum
Mignot, Cyril, Héron, Delphine, Bursztyn, Joseph, Momtchilova, Marta, Mayer, Michèle, Whalen, Sandra, Legall, Anne, Billette de Villemeur, Thierry, Burglen, Lydie
Published in Brain & development (Tokyo. 1979) (01.02.2013)
Published in Brain & development (Tokyo. 1979) (01.02.2013)
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Journal Article
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports
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
Published in Frontiers in Pediatrics (18.02.2020)
Published in Frontiers in Pediatrics (18.02.2020)
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Journal Article
International retrospective natural history study of LMNA-related congenital muscular dystrophy
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
Published in Brain Communications (01.07.2021)
Published in Brain Communications (01.07.2021)
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Journal Article
MFN2, a new gene responsible for mitochondrial DNA depletion
Renaldo, Florence, Amati-Bonneau, Patrizia, Slama, Abdelhamid, Romana, Claudia, Forin, Veronique, Doummar, Diane, Barnerias, Christine, Bursztyn, Joseph, Mayer, Michèle, Khouri, Nejib, Billette de Villemeur, Thierry, Burglen, Lydie, Reynier, Pascal, Bernabe Gelot, Antoinette, Rodriguez, Diana
Published in Brain (London, England : 1878) (01.08.2012)
Published in Brain (London, England : 1878) (01.08.2012)
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Journal Article
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
Susman, Rachel D., Quijano-Roy, Susana, Yang, Nan, Webster, Richard, Clarke, Nigel F., Dowling, Jim, Kennerson, Marina, Nicholson, Garth, Biancalana, Valerie, Ilkovski, Biljana, Flanigan, Kevin M., Arbuckle, Susan, Malladi, Chandra, Robinson, Phillip, Vucic, Steven, Mayer, Michèle, Romero, Norma B., Urtizberea, Jon Andoni, García-Bragado, Federico, Guicheney, Pascale, Bitoun, Marc, Carlier, Robert-Yves, North, Kathryn N.
Published in Neuromuscular disorders : NMD (01.04.2010)
Published in Neuromuscular disorders : NMD (01.04.2010)
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Journal Article