Search Results - "Yaou, Rabah Ben"

FHL1 is a major host factor for chikungunya virus infection by Meertens, Laurent, Hafirassou, Mohamed Lamine, Couderc, Thérèse, Bonnet-Madin, Lucie, Kril, Vasiliya, Kümmerer, Beate M., Labeau, Athena, Brugier, Alexis, Simon-Loriere, Etienne, Burlaud-Gaillard, Julien, Doyen, Cécile, Pezzi, Laura, Goupil, Thibaud, Rafasse, Sophia, Vidalain, Pierre-Olivier, Bertrand-Legout, Anne, Gueneau, Lucie, Juntas-Morales, Raul, Ben Yaou, Rabah, Bonne, Gisèle, de Lamballerie, Xavier, Benkirane, Monsef, Roingeard, Philippe, Delaugerre, Constance, Lecuit, Marc, Amara, Ali

“…Chikungunya virus (CHIKV) is a re-emerging alphavirus that is transmitted to humans by mosquito bites and causes musculoskeletal and joint pain 1 , 2 . Despite…”
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Clinical and genetic heterogeneity in laminopathies by Bertrand, Anne T, Chikhaoui, Khadija, Yaou, Rabah Ben, Bonne, Gisèle

“…Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different disorders called laminopathies which affect various tissues in an…”
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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients by Torelli, Silvia, Scaglioni, Domenic, Sardone, Valentina, Ellis, Matthew J, Domingos, Joana, Jones, Adam, Feng, Lucy, Chambers, Darren, Eastwood, Deborah M, Leturcq, France, Yaou, Rabah Ben, Urtizberea, Andoni, Sabouraud, Pascal, Barnerias, Christine, Stojkovic, Tanya, Ricci, Enzo, Beuvin, Maud, Bonne, Gisele, Sewry, Caroline A, Willis, Tracey, Kulshrestha, Richa, Tasca, Giorgio, Phadke, Rahul, Morgan, Jennifer E, Muntoni, Francesco

“…Abstract Duchenne muscular dystrophy (DMD) is an incurable disease caused by out-of-frame DMD gene deletions while in frame deletions lead to the milder Becker…”
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Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy by 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

“…Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contractures, muscular dystrophy, and cardiac involvement with…”
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De novo LMNA mutations cause a new form of congenital muscular dystrophy by Quijano-Roy, Susana, Mbieleu, Blaise, Bönnemann, Carsten G., Jeannet, Pierre-Yves, Colomer, Jaume, Clarke, Nigel F., Cuisset, Jean-Marie, Roper, Helen, De Meirleir, Linda, D'Amico, Adele, Ben Yaou, Rabah, Nascimento, Andrés, Barois, Annie, Demay, Laurence, Bertini, Enrico, Ferreiro, Ana, Sewry, Caroline A., Romero, Norma B., Ryan, Monique, Muntoni, Francesco, Guicheney, Pascale, Richard, Pascale, Bonne, Gisèle, Estournet, Brigitte

“…Objective To describe a new entity of congenital muscular dystrophies caused by de novo LMNA mutations. Methods Fifteen patients presenting with a myopathy of…”
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Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies) by Fayssoil, Abdallah, Nguyen, Lee S., Ogna, Adam, Meng, Paris, Nardi, Olivier, Laforet, Pascal, Clair, Bernard, Prigent, Helene, Lofaso, Frederic, Leturcq, France, Yaou, Rabah Ben, Annane, Djillali, Orlikowski, David

“…Cardiac and respiratory function may be impaired in sarcoglycanopathies, a subgroup of muscular dystrophies due to sarcoglycan proteins (α, β, γ, and δ) genes…”
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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome by Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J, Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle

“…Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity…”
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Preclinical Advances of Therapies for Laminopathies by Benarroch, Louise, Cohen, Enzo, Atalaia, Antonio, Ben Yaou, Rabah, Bonne, Gisèle, Bertrand, Anne T

“…Laminopathies are a group of rare disorders due to mutation in LMNA gene. Depending on the mutation, they may affect striated muscles, adipose tissues, nerves…”
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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 by Bertrand, Anne T, Brull, Astrid, Azibani, Feriel, Benarroch, Louise, Chikhaoui, Khadija, Stewart, Colin L, Medalia, Ohad, Ben Yaou, Rabah, Bonne, Gisèle

“…encodes for Lamin A/C, type V intermediate filaments that polymerize under the inner nuclear membrane to form the nuclear lamina. A small fraction of Lamin…”
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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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Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review by Waldrop, Megan A, Yaou, Rabah Ben, Lucas, Karin K, Martin, Ann S, O'Rourke, Erin, Ferlini, Alessandra, Muntoni, Francesco, Leturcq, France, Tuffery-Giraud, Sylvie, Weiss, Robert B, Flanigan, Kevin M

“…Eteplirsen, the first FDA-approved RNA-modifying therapy for DMD, is applicable to ∼13% of patients with DMD. Because multiple exonic deletions are amenable to…”
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Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation by Knoblauch, Hans, Geier, Christian, Adams, Stephanie, Budde, Birgit, Rudolph, André, Zacharias, Ute, Schulz-Menger, Jeannette, Spuler, Andreas, Yaou, Rabah Ben, Nürnberg, Peter, Voit, Thomas, Bonne, Gisele, Spuler, Simone

“…We investigated a large German family (n = 37) with male members who had contractures, rigid spine syndrome, and hypertrophic cardiomyopathy. Muscle weakness…”
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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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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation by RABAH BEN YAOU, NAVARRO, Claire, RICHARD, Pascale, BAROIS, Annie, LEVY, Nicolas, BONNE, Gisele, QUIJANO-ROY, Susana, BERTRAND, Anne T, MASSART, Catherine, DE SANDRE-GIOVANNOLI, Annachiara, CADINANOS, Juan, MAMCHAOUI, Kamel, BUTLER-BROWNE, Gillian, ESTOURNET, Brigitte

“…Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as…”
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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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Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation by Fayssoil, Abdallah, Yaou, Rabah Ben, Ogna, Adam, Leturcq, France, Nardi, Olivier, Clair, Bernard, Wahbi, Karim, Lofaso, Frederic, Laforet, Pascal, Duboc, Denis, Orlikowski, David, Annane, Djillali

“…Aims Duchenne muscular dystrophy (DMD) is characterized by respiratory and heart involvements. In the context of permanently wheelchair bound and on mechanical…”
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Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy by Feraudy, Yvan, Ben Yaou, Rabah, Wahbi, Karim, Stalens, Caroline, Stantzou, Amalia, Laugel, Vincent, Desguerre, Isabelle, Servais, Laurent, Leturcq, France, Amthor, Helge

“…Objective This study was undertaken to determine whether a low residual quantity of dystrophin protein is associated with delayed clinical milestones in…”
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Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors by 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

“…The mechanisms underlying the cell response to mechanical forces are crucial for muscle development and functionality. We aim to determine whether mutations of…”
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Becker muscular dystrophy severity is linked to the structure of dystrophin by Nicolas, Aurélie, Raguénès-Nicol, Céline, Ben Yaou, Rabah, Ameziane-Le Hir, Sarah, Chéron, Angélique, Vié, Véronique, Claustres, Mireille, Leturcq, France, Delalande, Olivier, Hubert, Jean-François, Tuffery-Giraud, Sylvie, Giudice, Emmanuel, Le Rumeur, Elisabeth

“…In-frame exon deletions of the Duchenne muscular dystrophy (DMD) gene produce internally truncated proteins that typically lead to Becker muscular dystrophy…”
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Titin copy number variations associated with dominant inherited phenotypes by Perrin, Aurélien, Métay, Corinne, Savarese, Marco, Ben Yaou, Rabah, Demidov, German, Nelson, Isabelle, Solé, Guilhem, Péréon, Yann, Bertini, Enrico Silvio, Fattori, Fabiana, D'Amico, Adele, Ricci, Federica, Ginsberg, Mira, Seferian, Andreea, Boespflug-Tanguy, Odile, Servais, Laurent, Chapon, Françoise, Lagrange, Emmeline, Gaudon, Karen, Bloch, Adrien, Ghanem, Robin, Guyant-Maréchal, Lucie, Johari, Mridul, Van Goethem, Charles, Fardeau, Michel, Morales, Raul Juntas, Genetti, Casie A, Marttila, Minttu, Koenig, Michel, Beggs, Alan H, Udd, Bjarne, Bonne, Gisèle, Cossée, Mireille

“…Titinopathies are caused by mutations in the titin gene ( ). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons…”
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