Update of Emerinopathies’ clinical-genetic spectrum: the French network experience

Tekijä Leturcq, France, Ben Yaou, Rabah
Julkaisussa Orphanet J Rare Dis (2015)

A common French-Italian laminopathy registry – update & future prospects

Tekijä Bonne, Gisèle, Ben Yaou, Rabah
Julkaisussa Orphanet J Rare Dis (2015)

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

Tekijä De Sandre-Giovannoli, Annachiara, Levy, Nicolas, Ben Yaou, Rabah, Leturcq, France, Lattanzi, Giovanna, Bonne, Gisèle
Julkaisussa Orphanet J Rare Dis (2015)

Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

Tekijä Atalaia, Antonio, Ben Yaou, Rabah, Wahbi, Karim, De Sandre-Giovannoli, Annachiara, Vigouroux, Corinne, Bonne, Gisèle
Julkaisussa J Neuromuscul Dis (2021)

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy

Tekijä Bertrand, Anne T., Brull, Astrid, Azibani, Feriel, Benarroch, Louise, Chikhaoui, Khadija, Stewart, Colin L., Medalia, Ohad, Ben Yaou, Rabah, Bonne, Gisèle
Julkaisussa Cells (2020)

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy

Tekijä de Feraudy, Yvan, Ben Yaou, Rabah, Wahbi, Karim, Stalens, Caroline, Stantzou, Amalia, Laugel, Vincent, Desguerre, Isabelle, Servais, Laurent, Leturcq, France, Amthor, Helge
Julkaisussa Ann Neurol (2020)

miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context

Tekijä Guilbaud, Marine, Gentil, Christel, Peccate, Cécile, Gargaun, Elena, Holtzmann, Isabelle, Gruszczynski, Carole, Falcone, Sestina, Mamchaoui, Kamel, Ben Yaou, Rabah, Leturcq, France, Jeanson-Leh, Laurence, Piétri-Rouxel, France
Julkaisussa Skelet Muscle (2018)

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

Tekijä 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
Julkaisussa J Neuromuscul Dis (2015)

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis

Tekijä Fayssoil, Abdallah, Ben Yaou, Rabah, Ogna, Adam, Chaffaut, Cendrine, Leturcq, France, Nardi, Olivier, Wahbi, Karim, Duboc, Denis, Lofaso, Frederic, Prigent, Helene, Clair, Bernard, Crenn, Pascal, Nicolas, Guillaume, Laforet, Pascal, Behin, Anthony, Chevret, Sylvie, Orlikowski, David, Annane, Djillali
Julkaisussa PLoS One (2018)

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

Tekijä Gueneau, Lucie, Bertrand, Anne T., Jais, Jean-Philippe, Salih, Mustafa A., Stojkovic, Tanya, Wehnert, Manfred, Hoeltzenbein, Maria, Spuler, Simone, Saitoh, Shinji, Verschueren, Annie, Tranchant, Christine, Beuvin, Maud, Lacene, Emmanuelle, Romero, Norma B., Heath, Simon, Zelenika, Diana, Voit, Thomas, Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle
Julkaistu 2009

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy

Tekijä De Cid, Rafael, Ben Yaou, Rabah, Roudaut, Carinne, Charton, Karine, Baulande, Sylvain, Leturcq, France, Romero, Norma Beatriz, Malfatti, Edoardo, Beuvin, Maud, Vihola, Anna, Criqui, Audrey, Nelson, Isabelle, Nectoux, Juliette, Ben Aim, Laurène, Caloustian, Christophe, Olaso, Robert, Udd, Bjarne, Bonne, Gisèle, Eymard, Bruno, Richard, Isabelle
Julkaisussa Neurology (2015)

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Tekijä Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle
Julkaistu 2013

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype

Tekijä 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
Julkaisussa J Neuromuscul Dis (2015)

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

Tekijä 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
Julkaisussa Neurol Genet (2019)

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Tekijä 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.
Julkaisussa Neurol Genet (2017)

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Tekijä Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Pénisson-Besnier, Isabelle, Romero, Norma, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle
Julkaistu 2013

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

Tekijä 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
Julkaisussa Brain Commun (2021)