Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up

by Desguerre, Isabelle, Christov, Christo, Mayer, Michele, Zeller, Reinhard, Becane, Henri-Marc, Bastuji-Garin, Sylvie, Leturcq, France, Chiron, Catherine, Chelly, Jamel, Gherardi, Romain K
Published in PloS one

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

by 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, 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, Ferreiro, Ana, 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.)

Promoting the Generalization of Paraprofessional Discrete Trial Teaching Skills

by Bolton, Janice, Mayer, Michele D.
Published in Focus on autism and other developmental disabilities

Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial

by 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

A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus

by Barateau, Alice, Vadrot, Nathalie, Vicart, Patrick, Ferreiro, Ana, Mayer, Michèle, Héron, Delphine, Vigouroux, Corinne, Buendia, Brigitte
Published in PloS one

Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses

by Maincent, Kim, Héron, Bénédicte, Billette de Villemeur, Thierry, Mayer, Michèle
Published in Orphanet journal of rare diseases

Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial

by 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

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

by 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

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

by 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

Postharvest quality and functional compounds in "dedo-de-moça" 'BRS Mari' pepper fruit at different stages of maturity

by Soethe, Cristina, Steffens, Cristiano André, Mattos, Leonora Mansur, Ferreira, Nathalie Alcântara, Mayer, Daiane Michele
Published in Ciência rural

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

by 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

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

by 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, Khau Van Kien, Philippe, Cormier-Daire, Valérie, Mayer, Michèle, Ogier, Hélène, Brice, Alexis, Seta, Nathalie, Héron, Delphine
Published in Orphanet journal of rare diseases

Natural evolution of weight status in Duchenne muscular dystrophy: a retrospective audit

by 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

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial

by Bertini, Enrico, Prof, Dessaud, Eric, PhD, Mercuri, Eugenio, Prof, Muntoni, Francesco, Prof, Kirschner, Janbernd, Prof, Reid, Carol, PhD, Lusakowska, Anna, MD, Comi, Giacomo P, Prof, Cuisset, Jean-Marie, MD, Abitbol, Jean-Louis, MD, Scherrer, Bruno, PhD, Ducray, Patricia Sanwald, PhD, Buchbjerg, Jeppe, MSc, Vianna, Eduardo, PhD, van der Pol, W Ludo, MD, Vuillerot, Carole, MD, Blaettler, Thomas, MD, Fontoura, Paulo, MD
Published in Lancet neurology

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

by 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)

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

by 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

Expanding the clinical, pathological and MRI phenotype of DNM2 -related centronuclear myopathy

by 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

MFN2, a new gene responsible for mitochondrial DNA depletion

by 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)

Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data

by Porcher, Raphaël, Desguerre, Isabelle, Amthor, Helge, Chabrol, Brigitte, Audic, Frédérique, Rivier, François, Isapof, Arnaud, Tiffreau, Vincent, Campana-Salort, Emmanuelle, Leturcq, France, Tuffery-Giraud, Sylvie, Ben Yaou, Rabah, Annane, Djillali, Amédro, Pascal, Barnerias, Christine, Bécane, Henri Marc, Béhin, Anthony, Bonnet, Damien, Bassez, Guillaume, Cossée, Mireille, de La Villéon, Grégoire, Delcourte, Claire, Fayssoil, Abdallah, Fontaine, Bertand, Godart, François, Guillaumont, Sophie, Jaillette, Emmanuelle, Laforêt, Pascal, Leonard-Louis, Sarah, Lofaso, Frederic, Mayer, Michele, Morales, Raul Juntas, Meune, Christophe, Orlikowski, David, Ovaert, Caroline, Prigent, Hélène, Saadi, Malika, Sochala, Maximilien, Tard, Celine, Vaksmann, Guy, Walther-Louvier, Ulrike, Eymard, Bruno, Stojkovic, Tanya, Ravaud, Philippe, Duboc, Denis, Wahbi, Karim
Published in European heart journal

International retrospective natural history study of LMNA -related congenital muscular dystrophy

by 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