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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

Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders

Journal Article published May 2017 in Cell Stem Cell volume 20 issue 5 on pages 659 to 674.e9

Research funded by MDC | Deutsche Forschungsgemeinschaft (PR1527/1-1, SCHU1187/4-1, Neurocure Exc 257, SPP 1784 ME2075/7-1) | Berlin Institute of Health (BIH) | Fondation pour la Recherche Médicale (DPM20121125550) | AFM-Téléthon (16416) | Fritz Thyssen Stiftung (Az.10.11.2.160) | Bundesministerium für Bildung und Forschung (AZ.031A318) | ERA-Net Neuron II project CIPRESS | FZPE/AERIAL P1

Authors: Carmen Lorenz, Pierre Lesimple, Raul Bukowiecki, Annika Zink, Gizem Inak, Barbara Mlody, Manvendra Singh, Marcus Semtner, Nancy Mah, Karine Auré, Megan Leong, Oleksandr Zabiegalov, Ekaterini-Maria Lyras, Vanessa Pfiffer, Beatrix Fauler, Jenny Eichhorst, Burkhard Wiesner, Norbert Huebner, Josef Priller, Thorsten Mielke, David Meierhofer, Zsuzsanna Izsvák, Jochen C. Meier, Frédéric Bouillaud, James Adjaye, Markus Schuelke, Erich E. Wanker, Anne Lombès, Alessandro Prigione

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

Fine mapping of hydrophobic contacts reassesses the organization of the first three dystrophin coiled-coil repeats

Journal Article published 14 Jan 2019 in Protein Science

Research funded by Association Française contre les Myopathies (Application #018211APhD Fellowship grant 19409) | GENCI French Supercomputing (DYSIM project) | French GENCI computing program | AFM-Téléthon (018211A)

Authors: Dominique Mias-Lucquin, Angélique Chéron, Elisabeth Le Rumeur, Jean-François Hubert, Olivier Delalande

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Journal Article published Sep 2016 in The American Journal of Human Genetics volume 99 issue 3 on pages 753 to 761

Research funded by AFM-Téléthon | Medical Research Council (98482) | Seventh Framework Programme (305444, 305121)

Authors: Stéphanie Bauché, Seana O’Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole

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

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

Activin type IIB receptor blockade does not limit adenosine triphosphate supply in mouse skeletal muscle in Vivo

Journal Article published Dec 2018 in Muscle & Nerve volume 58 issue 6 on pages 834 to 842

Research funded by AFM-Téléthon (AFM-Téléthon; to BG) | France Life Imaging network (ANR-11-INBS-0006; to MB)

Authors: Nelly Béchir, Émilie Pecchi, Christophe Vilmen, Monique Bernard, David Bendahan, Benoît Giannesini

Optimal location for eliciting the tibial H-reflex and motor response

Journal Article published 18 Nov 2018 in Muscle & Nerve volume 58 issue 6 on pages 828 to 833

Research funded by AFM-Téléthon (AFM-Téléthon; to BG)

Authors: Mustafa Görkem Özyurt, Mohammed Shabsog, Merve Dursun, Kemal S. Türker