Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Michèle Mayer"'
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
Autor:
Catherine Koch, Suzie Buono, Alexia Menuet, Anne Robé, Sarah Djeddi, Christine Kretz, Raquel Gomez-Oca, Marion Depla, Arnaud Monseur, Leen Thielemans, Laurent Servais, Jocelyn Laporte, Belinda S. Cowling, Mélanie Annoussamy, Andreea Seferian, Jonathan Baets, Nicole Voermans, Antony Behin, U. Schara, Adele D’Amico, Arturo Hernandez, Capucine de Lattre, Jean-Michel Arnal, Michèle Mayer, Jean-Marie Cuisset, Carole Vuillerot, Stéphanie Fontaine, Rémy Bellance
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1178-1189 (2020)
Myotubular myopathy, also called X-linked centronuclear myopathy (XL-CNM), is a severe congenital disease targeted for therapeutic trials. To date, biomarkers to monitor disease progression and therapy efficacy are lacking. The Mtm1−/y mouse is a f
Externí odkaz:
https://doaj.org/article/a9485f849aa14c759c9733815ca3f66a
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background Carpal tunnel syndrome (CTS) is a common complication of the mucopolysaccharidoses. In severe or attenuated mucopolysaccharidoses patients, clinical symptoms of CTS usually appear at a late stage of median nerve compression. Relyi
Externí odkaz:
https://doaj.org/article/7f2a9ca4040b423784a1a8b318a67b8d
Autor:
Alice Barateau, Nathalie Vadrot, Patrick Vicart, Ana Ferreiro, Michèle Mayer, Delphine Héron, Corinne Vigouroux, Brigitte Buendia
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0169189 (2017)
A-type lamins, the intermediate filament proteins participating in nuclear structure and function, are encoded by LMNA. LMNA mutations can lead to laminopathies such as lipodystrophies, premature aging syndromes (progeria) and muscular dystrophies. H
Externí odkaz:
https://doaj.org/article/60f3130735364f018730f132b7cc97e7
Autor:
Andreea Mihaela Seferian, Amélie Moraux, Mélanie Annoussamy, Aurélie Canal, Valérie Decostre, Oumar Diebate, Anne-Gaëlle Le Moing, Teresa Gidaro, Nicolas Deconinck, Frauke Van Parys, Wendy Vereecke, Sylvia Wittevrongel, Michèle Mayer, Kim Maincent, Isabelle Desguerre, Christine Thémar-Noël, Jean-Marie Cuisset, Vincent Tiffreau, Severine Denis, Virginie Jousten, Susana Quijano-Roy, Thomas Voit, Jean-Yves Hogrel, Laurent Servais
Publikováno v:
PLoS ONE, Vol 10, Iss 2, p e0113999 (2015)
INTRODUCTION:Upper limb evaluation of patients with Duchenne Muscular Dystrophy is crucially important to evaluations of efficacy of new treatments in non-ambulant patients. In patients who have lost ambulation, there are few validated and informativ
Externí odkaz:
https://doaj.org/article/ed4b72a789d6423f9dda1ca6cc65e476
Autor:
Andreea Mihaela Seferian, Amélie Moraux, Aurélie Canal, Valérie Decostre, Oumar Diebate, Anne Gaëlle Le Moing, Teresa Gidaro, Nicolas Deconinck, Frauke Van Parys, Wendy Vereecke, Sylvia Wittevrongel, Mélanie Annoussamy, Michèle Mayer, Kim Maincent, Jean-Marie Cuisset, Vincent Tiffreau, Severine Denis, Virginie Jousten, Susana Quijano-Roy, Thomas Voit, Jean-Yves Hogrel, Laurent Servais
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0121799 (2015)
Assessment of the upper limb strength in non-ambulant neuromuscular patients remains challenging. Although potential outcome measures have been reported, longitudinal data demonstrating sensitivity to clinical evolution in spinal muscular atrophy pat
Externí odkaz:
https://doaj.org/article/5ca9df19594f468c8d415800c75c3713
Autor:
Michèle Mayer
Publikováno v:
Contraste. :255-275
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a0f9c19241786ded90704edd8aceac8
https://doi.org/10.3917/cont.056.0255
https://doi.org/10.3917/cont.056.0255
Autor:
A. Daron, James J. Dowling, Carole Vuillerot, Severine Denis, Bruno Boulanger, Rémi Bellance, Jean-Michel Arnal, Carina Wallgren-Pettersson, Kimberly Amburgey, Etsuko Tsuchiya, A. Hernandez, Jean-Marie Cuisset, Bradley P. Carlin, Enrico Bertini, Andrea Gangfuß, Barbara Andres, Arnaud Monseur, E. Gargaun, Dominique Duchene, Ruxandra Cardas, Virginie Latournerie, Ana Buj-Bello, Ulrike Schara, Basil T. Darras, H. Landy, V. Chê, Chris Freitag, Laurent Servais, S. Fontaine, Adele D'Amico, Jean-Yves Hogrel, Teresa Gidaro, Nacera Reguiba, Andreea Mihaela Seferian, L. Thielemans, Valérie Biancalana, Michèle Mayer, Capucine de Lattre
Publikováno v:
Statistics in Biosciences. 14:237-258
The small sample sizes inherent in rare and pediatric disease settings offer significant challenges for clinical trial design. In such settings, Bayesian adaptive trial methods can often pay dividends, allowing the sensible incorporation of auxiliary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::deaeae228b62e499ae7089f3f672f7cb
https://doi.org/10.1007/s12561-021-09323-5
https://doi.org/10.1007/s12561-021-09323-5
Autor:
Caroline Ovaert, Sylvie Tuffery-Giraud, Sarah Leonard-Louis, Anthony Béhin, Sophie Guillaumont, Maximilien Sochala, Emmanuelle Campana-Salort, Frédérique Audic, Michèle Mayer, Damien Bonnet, Raul Juntas Morales, Mireille Cossée, Isabelle Desguerre, Christophe Meune, Pascal Laforêt, Rabah Ben Yaou, Brigitte Chabrol, Djillali Annane, David Orlikowski, François Godart, Malika Saadi, Helge Amthor, Tanya Stojkovic, Ulrike Walther-Louvier, Frédéric Lofaso, Pascal Amedro, Raphaël Porcher, Céline Tard, Claire Delcourte, Vincent Tiffreau, Karim Wahbi, Christine Barnerias, Guillaume Bassez, Bertrand Fontaine, Arnaud Isapof, Gregoire De La Villeon, Guy Vaksmann, François Rivier, Denis Duboc, Henri Marc Bécane, Philippe Ravaud, Hélène Prigent, Emmanuelle Jaillette, Abdallah Fayssoil, Bruno Eymard
Publikováno v:
European Heart Journal
European Heart Journal, Oxford University Press (OUP): Policy B, 2021, ⟨10.1093/eurheartj/ehab054⟩
European Heart Journal, 2021, ⟨10.1093/eurheartj/ehab054⟩
European Heart Journal, Oxford University Press (OUP): Policy B, 2021, ⟨10.1093/eurheartj/ehab054⟩
European Heart Journal, 2021, ⟨10.1093/eurheartj/ehab054⟩
Aims To estimate the effect of prophylactic angiotensin-converting enzyme inhibitors (ACEi) on survival in Duchenne muscular dystrophy (DMD). Methods and results We analysed the data from the French multicentre DMD Heart Registry (ClinicalTrials.gov:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84a4eeaae527cf105631ef315b278f7
https://doi.org/10.1093/eurheartj/ehab054
https://doi.org/10.1093/eurheartj/ehab054
Autor:
Mélanie Fradin, Nicolas Sadoul, Xavier Waintraub, Didier Klug, Albert Hagège, Pascal Sabouraud, Arnaud Isapof, Julien Durigneux, Olivier Lascols, Pascal Laforêt, Armelle Magot, Ivana Dabaj, Eloi Marijon, Camille Vatier, Pascal Cintas, Emmanuelle Salort, Bénédicte Gaborit, Antoine Muchir, Xavier Ferrer, Pascale Richard, Corinne Metay, Stéphane Boulé, Sarah Leonard-Louis, Philippe Mabo, V. Tiffreau, Caroline Stalens, Jitendra K. Vohra, Stéphane Schaeffer, Khadija Chikhaoui, Eric Bieth, Sandra Mercier, Pierre Ambrosi, Aleksandra Nadaj-Pakleza, Michèle Mayer, Katja Zeppenfeld, Gisèle Bonne, Véronique Manel, Jean-Marc Davy, Guilhem Sole, Ghassan Moubarak, Nicolas Lamblin, Klaus Dieterich, Christophe Meune, Abdallah Fayssoil, Arnaud Lazarus, Philippe Maury, Karim Wahbi, Philippe Petiot, Isabelle Jéru, Annick Toutain, Corinne Vigouroux, Ana Ferreiro, Maud Michaud, H.M. Bécane, Bruno Eymard, Thomas D. Gossios, Marie-Christine Vantyghem, Saurabh Kumar, Estelle Gandjbakhch, Yann Péréon, T. Thompson, Marie-Christine Minot-Myhié, Anthony Behin, Frédéric Sacher, Philippe Charron, Nicolas Combes, Julien Praline, Dominique Babuty, Emmanuelle Lagrue, Usha B. Tedrow, Jean-Marc Sellal, Florence Petit, Perry M. Elliott, Frédéric Anselme, Philippe Chevalier, Frederic Taithe, Christine Barnerias, Vincent Laugel, Andoni Echaniz-Laguna, Raphaël P. Martins, Alexander F.A. Androulakis, Rabah Ben Yaou, Franck Boccara, Ulrike Walther-Louvier, Tanya Stojkovic, Françoise Bouhour, Annachiara De Sandre-Giovannoli, Susana Quijano-Roy, Françoise Chapon, Jean-Noël Trochu, Céline Tard, Anne Rollin, Jean-Marie Cuisset, Denis Duboc, Raphaël Porcher, Catherine Sarret, Jonathan M. Kalman, Florence Demurger, Damien Bonnet, Christine Francannet, Neal K. Lakdawala, Romain Eschalier, Fabien Labombarda, Kostantinos Savvatis, Raul Juntas Morales, Isabelle Desguerre, Nicolas Lévy, Anne-Claire Brehin
Publikováno v:
Circulation
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, American Heart Association, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, 140(4), 293-302. LIPPINCOTT WILLIAMS & WILKINS
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, American Heart Association, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, 140(4), 293-302. LIPPINCOTT WILLIAMS & WILKINS
Background: An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. Methods: We included 83
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::483a88c3cc8f66a0edaa78e72a999e1e
https://doi.org/10.1161/circulationaha.118.039410
https://doi.org/10.1161/circulationaha.118.039410
Autor:
Rabah, Ben Yaou, Pomi, Yun, Ivana, Dabaj, Gina, Norato, Sandra, Donkervoort, Hui, Xiong, Andrés, Nascimento, Lorenzo, Maggi, Anna, Sarkozy, Soledad, Monges, Marta, Bertoli, Hirofumi, Komaki, Michèle, Mayer, Eugenio, Mercuri, Edmar, Zanoteli, Claudia, Castiglioni, Chiara, Marini-Bettolo, Adele, D'Amico, Nicolas, Deconinck, Isabelle, Desguerre, Ricardo, Erazo-Torricelli, Juliana, Gurgel-Giannetti, Akihiko, Ishiyama, Karin S, Kleinsteuber, Emmanuelle, Lagrue, Vincent, Laugel, Sandra, Mercier, Sonia, Messina, Luisa, Politano, Monique M, Ryan, Pascal, Sabouraud, Ulrike, Schara, Gabriele, Siciliano, Liliana, Vercelli, Thomas, Voit, Grace, Yoon, Rachel, Alvarez, Francesco, Muntoni, Tyler M, Pierson, David, Gómez-Andrés, A, Reghan Foley, Susana, Quijano-Roy, Carsten G, Bönnemann, Gisèle, Bonne
Publikováno v:
Brain Communications
Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::72e871e4b9d150ef8d59b34bcdce8628
https://pubmed.ncbi.nlm.nih.gov/34240052
https://pubmed.ncbi.nlm.nih.gov/34240052