Search Results - "Leturcq, France"

Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging by 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

“…Duchenne muscular dystrophy (DMD) is a common and severe X-linked myopathy, characterized by muscle degeneration due to altered or absent dystrophin. DMD has…”
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Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation by Pacault, Mathilde, Verebi, Camille, Champion, Magali, Orhant, Lucie, Perrier, Alexandre, Girodon, Emmanuelle, Leturcq, France, Vidaud, Dominique, Férec, Claude, Bienvenu, Thierry, Daveau, Romain, Nectoux, Juliette

“…Non-invasive prenatal diagnosis of single-gene disorders (SGD-NIPD) has been widely accepted, but is mostly limited to the exclusion of either paternal or de…”
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Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E by 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

“…OBJECTIVE:To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can…”
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Rescue of Dystrophic Muscle through U7 snRNA-Mediated Exon Skipping by Goyenvalle, Aurélie, Vulin, Adeline, Fougerousse, Françoise, Leturcq, France, Kaplan, Jean-Claude, Garcia, Luis, Danos, Olivier

“…Most mutations in the dystrophin gene create a frameshift or a stop in the mRNA and are associated with severe Duchenne muscular dystrophy. Exon skipping that…”
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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 2D by 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

“…Type 2C and 2D limb girdle muscular dystrophies (LGMD) are a group of autosomal recessive limb girdle muscular dystrophies manifested by proximal myopathy,…”
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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

“…To explore clinical heterogeneity of Duchenne muscular dystrophy (DMD), viewed as a major obstacle to the interpretation of therapeutic trials A retrospective…”
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Limb girdle muscular dystrophy due to mutations in POMT2 by Østergaard, Sofie Thurø, Johnson, Katherine, Stojkovic, Tanya, Krag, Thomas, De Ridder, Willem, De Jonghe, Peter, Baets, Jonathan, Claeys, Kristl G, Fernández-Torrón, Roberto, Phillips, Lauren, Topf, Ana, Colomer, Jaume, Nafissi, Shahriar, Jamal-Omidi, Shirin, Bouchet-Seraphin, Celine, Leturcq, France, MacArthur, Daniel G, Lek, Monkol, Xu, Liwen, Nelson, Isabelle, Straub, Volker, Vissing, John

“…BackgroundMutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently,…”
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Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells by 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

“…Abstract Duchenne muscular dystrophy (DMD) is a devastating X-linked muscular disease, caused by mutations in the DMD gene encoding Dystrophin and affecting…”
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Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy by 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

“…Background Chronic respiratory failure and heart involvement may occur in Duchenne muscular dystrophy. We aimed to assess the prognostic value of the right…”
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Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis by 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

“…Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. We designed this study to…”
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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 by Nicolas, Aurélie, Lucchetti-Miganeh, Céline, Yaou, Rabah Ben, Kaplan, Jean-Claude, Chelly, Jamel, Leturcq, France, Barloy-Hubler, Frédérique, Le Rumeur, Elisabeth

“…Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the…”
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A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy by Krahn, Martin, Wein, Nicolas, Bartoli, Marc, Lostal, William, Courrier, Sébastien, Bourg-Alibert, Nathalie, Nguyen, Karine, Vial, Christophe, Streichenberger, Nathalie, Labelle, Véronique, DePetris, Danielle, Pécheux, Christophe, Leturcq, France, Cau, Pierre, Richard, Isabelle, Lévy, Nicolas

“…Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a…”
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X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation by Barthélémy, Inès, Calmels, Nadège, Weiss, Robert B, Tiret, Laurent, Vulin, Adeline, Wein, Nicolas, Peccate, Cécile, Drougard, Carole, Beroud, Christophe, Deburgrave, Nathalie, Thibaud, Jean-Laurent, Escriou, Catherine, Punzón, Isabel, Garcia, Luis, Kaplan, Jean-Claude, Flanigan, Kevin M, Leturcq, France, Blot, Stéphane

“…Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease…”
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miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context by 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

“…Duchenne (DMD) and Becker (BMD) muscular dystrophies are caused by mutations in the DMD gene coding for dystrophin, a protein being part of a large sarcolemmal…”
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The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD by Gargaun, Elena, Falcone, Sestina, Solé, Guilhem, Durigneux, Julien, Urtizberea, Andoni, Cuisset, Jean Marie, Benkhelifa-Ziyyat, Sofia, Julien, Laura, Boland, Anne, Sandron, Florian, Meyer, Vincent, Deleuze, Jean François, Salgado, David, Desvignes, Jean-Pierre, Béroud, Christophe, Chessel, Anatole, Blesius, Alexia, Krahn, Martin, Levy, Nicolas, Leturcq, France, Pietri-Rouxel, France

“…In skeletal muscle, long noncoding RNAs (lncRNAs) are involved in dystrophin protein stabilization but also in the regulation of myocytes proliferation and…”
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Gene expression profiling in limb-girdle muscular dystrophy 2A by 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

“…Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in calpain 3 (CAPN3). Calpain 3 plays different roles in…”
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Dysferlinopathies by Urtizberea, J. Andoni, Bassez, Guillaume, Leturcq, France, Nguyen, Karine, Krahn, Martin, Levy, Nicolas

“…Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive…”
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Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations? by 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

“…Introduction: Limb‐girdle muscular dystrophy type 2A (LGMD2A) is caused by a deficiency of calpain‐3/p94. Although the symptoms in most LGMD2A patients are…”
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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy by Roberds, S L, Leturcq, F, Allamand, V, Piccolo, F, Jeanpierre, M, Anderson, R D, Lim, L E, Lee, J C, Tomé, F M, Romero, N B

“…Adhalin, the 50 kDa dystrophin-associated glycoprotein, is deficient in skeletal muscle of patients having severe childhood autosomal recessive muscular…”
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Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene by Béroud, Christophe, Carrié, Alain, Beldjord, Chérif, Deburgrave, Nathalie, Llense, Stéphane, Carelle, Nadège, Peccate, Cécile, Cuisset, Jean-Marie, Pandit, Florence, Carré-Pigeon, Frédérique, Mayer, Michèle, Bellance, Rémi, Récan, Dominique, Chelly, Jamel, Kaplan, Jean-Claude, Leturcq, France

“…In the course of a mutation search performed by muscle dystrophin transcript analysis in 72 Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without…”
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