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Rituximab in myasthenia gravis: a “to be or not to be” inhibitor of T cell function

Journal Article published 25 Jan 2018 in Annals of the New York Academy of Sciences volume 1413 issue 1 on pages 41 to 48

Research funded by AFM-Téléthon

Authors: Mariapaola Marino, Emanuela Bartoccioni, Paolo Emilio Alboini, Amelia Evoli

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

Journal Article published 15 Jul 2017 in Journal of Neurology volume 264 issue 8 on pages 1791 to 1803

Research funded by AFM-Téléthon (20030) | Agence Nationale de la Recherche (d’avenir’’ANR-10-IAIHU-06)

Authors: Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie-Joséphine Fontenille, Elodie De Bruyckere, Claire-Sophie Davoine, Guy Brochier, Julien Messéant, Lucie Wolf, Michel Fardeau, Emmanuelle Lacène, Norma Romero, Jeanine Koenig, Emmanuel Fournier, Daniel Hantaï, Nathalie Streichenberger, Veronique Manel, Arnaud Lacour, Aleksandra Nadaj-Pakleza, Sylvie Sukno, Françoise Bouhour, Pascal Laforêt, Bertrand Fontaine, Laure Strochlic, Bruno Eymard, Frédéric Chevessier, Tanya Stojkovic, Sophie Nicole

Coding and Non-coding RNAs, the Frontier Has Never Been So Blurred

Journal Article published 18 Apr 2018 in Frontiers in Genetics volume 9

Research funded by AFM-Téléthon (#20534)

Authors: Florent Hubé, Claire Francastel

Quiescence of human muscle stem cells is favored by culture on natural biopolymeric films

Journal Article published 2 May 2017 in Stem Cell Research & Therapy volume 8 issue 1

Research funded by ERC Starting Grant (GA 259370) | ERC Advanced Research Grant (GA 332893) | AFM-Téléthon (16673, 316530) | Agence Nationale de la Recherche (ANR-10-LABX- 73)

Authors: Claire Monge, Nicholas DiStasio, Thomas Rossi, Muriel Sébastien, Hiroshi Sakai, Benoit Kalman, Thomas Boudou, Shahragim Tajbakhsh, Isabelle Marty, Anne Bigot, Vincent Mouly, Catherine Picart

An Optimized Lentiviral Vector Efficiently Corrects the Human Sickle Cell Disease Phenotype

Journal Article published Sep 2018 in Molecular Therapy - Methods & Clinical Development volume 10 on pages 268 to 280

Research funded by AFM-Téléthon (17224) | European Research Council (ERC-2010-AdG, ERC-2015-AdG) | Agence Nationale de la Recherche (ANR-16-CE18-0004, ANR-10-IAHU-01) | EU Marie Curie-COFUND (PRESTIGE_2015_2_0015) | BioMarin Pharmaceutical

Authors: Leslie Weber, Valentina Poletti, Elisa Magrin, Chiara Antoniani, Samia Martin, Charles Bayard, Hanem Sadek, Tristan Felix, Vasco Meneghini, Michael N. Antoniou, Wassim El-Nemer, Fulvio Mavilio, Marina Cavazzana, Isabelle Andre-Schmutz, Annarita Miccio

Muscle contraction is required to maintain the pool of muscle progenitors via YAP and NOTCH during fetal myogenesis

Journal Article published 24 Aug 2016 in eLife volume 5

Research funded by Agence Nationale de la Recherche (ANR-12-BSV1-0038) | AFM-Téléthon (AFM 16752/16826) | Fondation pour la Recherche Médicale (DEQ20140329500) | Centre National de la Recherche Scientifique | Institut National de la Santé et de la Recherche Médicale | Université Pierre et Marie Curie

Authors: Joana Esteves de Lima, Marie-Ange Bonnin, Carmen Birchmeier, Delphine Duprez

Pitx2 in Embryonic and Adult Myogenesis

Journal Article published 1 May 2017 in Frontiers in Cell and Developmental Biology volume 5

Research funded by Ministerio de Economía y Competitividad (BFU2012-38111, BFU2015-67131) | Consejería de Economía, Innovación, Ciencia y Empleo, Junta de Andalucía (P08-CTS-03878) | AFM-Téléthon (AFM2012-16074)

Authors: Francisco Hernandez-Torres, Lara Rodríguez-Outeiriño, Diego Franco, Amelia E. Aranega

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

Journal Article published 13 May 2017 in Acta Neuropathologica volume 134 issue 1 on pages 163 to 165

Research funded by Agence Nationale de la Recherche (ANR-10-INBS-09, ANR-10-LABX-0030-INRT, ANR-10-IDEX-0002-02) | Fondation Maladies Rares | AFM-Téléthon (AFM16992, AFM-17088) | CREGEMES | Institut National de la Santé et de la Recherche Médicale | Centre National de la Recherche Scientifique | Université de Strasbourg

Authors: Andoni Echaniz-Laguna, Xavière Lornage, Béatrice Lannes, Raphaël Schneider, Guillaume Bierry, Nicolas Dondaine, Anne Boland, Jean-François Deleuze, Johann Böhm, Julie Thompson, Jocelyn Laporte, Valérie Biancalana

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

Journal Article published 28 Jul 2016 in PLOS ONE volume 11 issue 7 on page e0159853

Research funded by AFM-Téléthon (18881) | Royal Veterinary College | LGMD2I fund | RVC Studentship

Authors: J. C. W. Hildyard, E. Lacey, H. Booler, M. Hopkinson, D. J. Wells, S. C. Brown

Editors: Atsushi Asakura

Exercise-induced alterations and loss of sarcomeric M-line organization in the diaphragm muscle of obscurin knockout mice

Journal Article published Jan 2017 in American Journal of Physiology-Cell Physiology volume 312 issue 1 on pages C16 to C28

Research funded by Fondazione Telethon (GGP13213) | National Institutes of Health (HL107744 and P30AR061303) | AFM-Téléthon (18822) | Ministero della Salute (WF GR-2011-02350912) | Ministero dell’Istruzione, dell’Università e della Ricerca (MIUR-FIR 2013 RBFR13A20K)

Authors: D. Randazzo, B. Blaauw, C. Paolini, E. Pierantozzi, S. Spinozzi, S. Lange, J. Chen, F. Protasi, C. Reggiani, V. Sorrentino