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26 results for Yaou,+Rabah+Ben

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ArticlesPeer ReviewedFull Text
FHL1 is a major host factor for chikungunya virus infection
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2019-10, Vol.574 (7777), p.259-263
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ArticlesPeer ReviewedFull Text
Titin copy number variations associated with dominant inherited phenotypes
Author / Creator: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 ; Udd, Bjarne ; Bonne, Gisèle ; Cossée, Mireille
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-03, Vol.61 (4), p.369-377
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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients
Author / Creator: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
Publisher:England: Oxford University Press
Journal title:Journal of neuropathology and experimental neurology, 2021-10, Vol.80 (10), p.955-965
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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.206-206, Article 206
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Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies)
Author / Creator: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
Publisher:United States: Elsevier Inc
Journal title:The American journal of cardiology, 2018-07, Vol.122 (2), p.353-355
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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
Author / Creator:Bertrand, Anne T ; Brull, Astrid ; Azibani, Feriel ; Benarroch, Louise ; Chikhaoui, Khadija ; Stewart, Colin L ; Medalia, Ohad ; Ben Yaou, Rabah ; Bonne, Gisèle
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2020-03, Vol.9 (4), p.844
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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation
Author / Creator:Yaou, Rabah Ben ; Navarro, Claire ; Quijano-Roy, Susana ; Bertrand, Anne T ; Massart, Catherine ; De Sandre-Giovannoli, Annachiara ; Cadiñanos, Juan ; Mamchaoui, Kamel ; Butler-Browne, Gillian ; Estournet, Brigitte ; Richard, Pascale ; Barois, Annie ; Lévy, Nicolas ; Bonne, Gisèle
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-06, Vol.19 (6), p.647-654
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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
Author / Creator:Nicolas, Aurñlie ; Lucchetti-Miganeh, Cñline ; Yaou, Rabah Ben ; Kaplan, Jean-Claude ; Chelly, Jamel ; Leturcq, France ; Barloy-Hubler, Frñdñrique ; Le Rumeur, Elisabeth
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-07, Vol.7 (1), p.45-45, Article 45
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miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Skeletal muscle, 2018-04, Vol.8 (1), p.15-15, Article 15
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Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation
Author / Creator: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
Publisher:England: John Wiley & Sons, Inc
Journal title:ESC Heart Failure, 2017-11, Vol.4 (4), p.527-534
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ArticlesPeer ReviewedFull Text
Preclinical Advances of Therapies for Laminopathies
Author / Creator:Benarroch, Louise ; Cohen, Enzo ; Atalaia, Antonio ; Ben Yaou, Rabah ; Bonne, Gisèle ; Bertrand, Anne T
Publisher:Basel: MDPI AG
Journal title:Journal of clinical medicine, 2021-10, Vol.10 (21), p.4834
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ArticlesPeer ReviewedFull Text
Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-01, Vol.13 (1), p.e0190518-e0190518
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Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
Author / Creator:van Berlo, Jop H ; de Voogt, Willem G ; van der Kooi, Anneke J ; van Tintelen, J Peter ; Bonne, Gisèle ; Yaou, Rabah Ben ; Duboc, Denis ; Rossenbacker, Tom ; Heidbüchel, Hein ; de Visser, Marianne ; Crijns, Harry J G M ; Pinto, Yigal M
Publisher:Germany: Springer Nature B.V
Journal title:Journal of molecular medicine (Berlin, Germany), 2005-01, Vol.83 (1), p.79-83
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Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.145-145, Article 145
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An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases
Author / Creator:De Sandre-Giovannoli, Annachiara ; Levy, Nicolas ; Ben Yaou, Rabah ; Leturcq, France ; Lattanzi, Giovanna ; Bonne, Gisèle
Publisher:BioMed Central
Journal title:Orphanet journal of rare diseases, 2015, Vol.10 (Suppl 2), p.I1-I1
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eDystrophin : un nouvel outil dédié à une meilleure compréhension des dystrophinopathies
Author / Creator:Ben Yaou, Rabah ; Nicolas, Aurélie ; Leturcq, France ; Le Rumeur, Élisabeth
Publisher:Paris: EDP Sciences
Journal title:Les Cahiers de Myologie, 2016-06 (13), p.15-24
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A common French-Italian laminopathy registry – update & future prospects
Author / Creator:Bonne, Gisèle ; Ben Yaou, Rabah
Publisher:BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-11, Vol.10 (S2), p.O31-O31, Article O31
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Update of Emerinopathies’ clinical-genetic spectrum: the French network experience
Author / Creator:Leturcq, France ; Ben Yaou, Rabah
Publisher:BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-11, Vol.10 (26), p.O16-O16
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Author / Creator:Zurek, Birte ; Ellwanger, Kornelia ; Vissers, Lisenka E L M ; Schüle, Rebecca ; Synofzik, Matthis ; Töpf, Ana ; de Voer, Richarda M ; Laurie, Steven ; Matalonga, Leslie ; Gilissen, Christian ; Ossowski, Stephan ; 't Hoen, Peter A C ; Vitobello, Antonio ; Schulze-Hentrich, Julia M ; Riess, Olaf ; Brunner, Han G ; Brookes, Anthony J ; Rath, Ana ; Bonne, Gisèle ; Gumus, Gulcin ; Verloes, Alain ; Hoogerbrugge, Nicoline ; Evangelista, Teresinha ; Harmuth, Tina ; Swertz, Morris ; Spalding, Dylan ; Hoischen, Alexander ; Beltran, Sergi ; Graessner, Holm
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1325-1331
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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-08, Vol.21 (8), p.855-863
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Showing 1 to 20 of 26 results

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FHL1 is a major host factor for chikungunya virus infection

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Titin copy number variations associated with dominant inherited phenotypes

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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

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Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies)

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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

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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

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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

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

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Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation

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Preclinical Advances of Therapies for Laminopathies

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

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Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

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Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome

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

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eDystrophin : un nouvel outil dédié à une meilleure compréhension des dystrophinopathies

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

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

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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

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

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