Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging von Dabaj, Ivana, Ferey, Justine, Marguet, Florent, Gilard, Vianney, Basset, Carole, Bahri, Youssef, Brehin, Anne-Claire, Vanhulle, Catherine, Leturcq, France, Marret, Stéphane, Laquerrière, Annie, Schmitz-Afonso, Isabelle, Afonso, Carlos, Bekri, Soumeya, Tebani, Abdellah

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Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation von Pacault, Mathilde, Verebi, Camille, Champion, Magali, Orhant, Lucie, Perrier, Alexandre, Girodon, Emmanuelle, Leturcq, France, Vidaud, Dominique, Férec, Claude, Bienvenu, Thierry, Daveau, Romain, Nectoux, Juliette

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Rescue of Dystrophic Muscle through U7 snRNA-Mediated Exon Skipping von Goyenvalle, Aurélie, Vulin, Adeline, Fougerousse, Françoise, Leturcq, France, Kaplan, Jean-Claude, Garcia, Luis, Danos, Olivier

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Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E von Semplicini, Claudio, Vissing, John, Dahlqvist, Julia R, Stojkovic, Tanya, Bello, Luca, Witting, Nanna, Duno, Morten, Leturcq, France, Bertolin, Cinzia, DʼAmbrosio, Paola, Eymard, Bruno, Angelini, Corrado, Politano, Luisa, Laforêt, Pascal, Pegoraro, Elena

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Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and... von Fayssoil, Abdallah, Ogna, Adam, Chaffaut, Cendrine, Chevret, Sylvie, Guimarães-Costa, Raquel, Leturcq, France, Wahbi, Karim, Prigent, Helene, Lofaso, Frederic, Nardi, Olivier, Clair, Bernard, Behin, Anthony, Stojkovic, Tanya, Laforet, Pascal, Orlikowski, David, Annane, Djillali

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Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up von Desguerre, Isabelle, Christov, Christo, Mayer, Michele, Zeller, Reinhard, Becane, Henri-Marc, Bastuji-Garin, Sylvie, Leturcq, France, Chiron, Catherine, Chelly, Jamel, Gherardi, Romain K

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Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells von Cardone, Nastasia, Taglietti, Valentina, Baratto, Serena, Kefi, Kaouthar, Periou, Baptiste, Gitiaux, Ciryl, Barnerias, Christine, Lafuste, Peggy, Pharm, France Leturcq, Pharm, Juliette Nectoux, Panicucci, Chiara, Desguerre, Isabelle, Bruno, Claudio, Authier, François-Jerome, Fiorillo, Chiara, Relaix, Frederic, Malfatti, Edoardo

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Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy von Fayssoil, Abdallah, Mansencal, Nicolas, Nguyen, Lee S, Nardi, Olivier, Yaou, Rabah Ben, Leturcq, France, Amthor, Helge, Wahbi, Karim, Becane, Henri Marc, Lofaso, Frederic, Prigent, Helene, Bassez, Guillaume, Behin, Anthony, Stojkovic, Tanya, Fontaine, Bertrand, Duboc, Denis, Dubourg, Olivier, Clair, Bernard, Laforet, Pascal, Annane, Djillali, Orlikowski, David

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Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database von Nicolas, Aurélie, Lucchetti-Miganeh, Céline, Yaou, Rabah Ben, Kaplan, Jean-Claude, Chelly, Jamel, Leturcq, France, Barloy-Hubler, Frédérique, Le Rumeur, Elisabeth

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

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X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation von Barthelemy, Ines, Calmels, Nadege, Weiss, Robert B., Tiret, Laurent, Vulin, Adeline, Wein, Nicolas, Peccate, Cecile, Drougard, Carole, Beroud, Christophe, Deburgrave, Nathalie, Thibaud, Jean-Laurent, Escriou, Catherine, Punzon, Isabel, Garcia, Luis, Kaplan, Jean-Claude, Flanigan, Kevin M., Leturcq, France, Blot, Stephane

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

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The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD von Gargaun, Elena, Falcone, Sestina, Sole, Guilhem, Durigneux, Julien, Urtizberea, Andoni, Cuisset, Jean Marie, Benkhelifa-Ziyyat, Sofia, Julien, Laura, Boland, Anne, Sandron, Florian, Meyer, Vincent, Deleuze, Jean Francois, Salgado, David, Desvignes, Jean-Pierre, Beroud, Christophe, Chessel, Anatole, Blesius, Alexia, Krahn, Martin, Levy, Nicolas, Leturcq, France, Pietri-Rouxel, France

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Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases von 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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Gene expression profiling in limb-girdle muscular dystrophy 2A von Sáenz, Amets, Azpitarte, Margarita, Armañanzas, Rubén, Leturcq, France, Alzualde, Ainhoa, Inza, Iñaki, García-Bragado, Federico, De la Herran, Gaspar, Corcuera, Julián, Cabello, Ana, Navarro, Carmen, De la Torre, Carolina, Gallardo, Eduard, Illa, Isabel, López de Munain, Adolfo

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Dysferlinopathies von Urtizberea, J. Andoni, Bassez, Guillaume, Leturcq, France, Nguyen, Karine, Krahn, Martin, Levy, Nicolas

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A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in... von Verebi, Camille, Gravrand, Victor, Bienvenu, Thierry, Leturcq, France, Nectoux, Juliette

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Phenotypic variability in Tunisian LGMDR1 patients harboring c.1194-9A>G splicing mutation von Belhassen, Ikhlass, Sakka, Salma, Bouattour, Nadia, Nectoux, Juliette, Damak, Mariem, Leturcq, France, Mhiri, Chokri

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Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations? von Sáenz, Amets, Ono, Yasuko, Sorimachi, Hiroyuki, Goicoechea, Maria, Leturcq, France, Blázquez, Lorea, García-Bragado, Federico, Marina, Alberto, Poza, Juan José, Azpitarte, Margarita, Doi, Naoko, Urtasun, Miguel, Kaplan, Jean-Claude, De Munain, Adolfo López

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Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy von Feraudy, Yvan, Ben Yaou, Rabah, Wahbi, Karim, Stalens, Caroline, Stantzou, Amalia, Laugel, Vincent, Desguerre, Isabelle, Servais, Laurent, Leturcq, France, Amthor, Helge

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