Check the mail online click here Newsletter #56 Welcome to the 56th edition of our newsletter. This issue features an interview with Fabien Le Grand, a researcher at the Myology Centre for Research who has recently published an article about the role of the Wnt/b-catenin signalling pathway in muscle stem cells and its impact on their regenerative potential. The findings of this exciting study represent a significant advance in muscle stem cell biology and muscle regeneration. Our newsletter also highlights select publications from international research teams and teams at the Institute and brings you information on upcoming events and recent calls for proposal. At the Institute Fabien Le Grand : Wnt/b-catenin pathway and muscle regeneration Fabien Le Grand (team 3 at the Myology Centre for Research) have published an article in Cell Reports concerning Wnt/b-catenin activation in adult muscle progenitor cells. Read more Next seminars at the Institute Next seminars will be given by Dr Patrice Petit (Université Paris Descartes France) on Barth Syndrome, and by Franceso Saverio Tedesco (University College London, UK) on Human Artificial Chromosomes and iPS cells. Read more Our latest news AIRE, key factor in the gender inequality for autoimmune diseases To prove this inequality, the researchers from the Institute of Myology looked into the mechanisms of thymic tolerance, meaning a state of immune non-response while facing an antigen. Read more Cancer screening in necrotizing autoimmune myopathies Anti-signal recognition particle or anti-HMGCR antibodies have been specifically associated with necrotizing autoimmune myopathies. Read more Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy Cardiac alterations, characterised by conduction delays and arrhythmia, are the second most common cause of death in Myotonic dystrophy. Read more Defining the natural history of LGMD2A This observational study is investigating the clinical manifestations and disease progression in genetically confirmed LGMD2A. Read more High respiratory morbidity in severely respiratory impaired LGMD type 2C and 2D patients This study aimed to describe the long-term cardiac and respiratory follow-up of LGMD patients (from 2005 to 2015). Read more Use of advanced MRI methods to quantify spinal cord atrophy in SMN1-linked SMA The mechanisms underlying the topography of motor deficits in spinal muscular atrophy remain unknown. Read more International breaking news Phase I study of SMT C1100 in paediatric DMD patients SMT C1100 is a utrophin modulator being evaluated as a treatment for Duchenne muscular dystrophy. Read more Identification of novel SMCHD1 mutations in Japanese FSHD2 patients FSHD2 has not been studied in Asian populations. Therefore, it is not known whether this disease mechanism is widely seen. Read more Spinal muscular atrophy Targeted sequencing of maternal plasma for haplotype-based noninvasive prenatal testing of spinal muscular atrophy Rasch analysis of PEDI-CAT for children and young adults with SMA Disease burden of spinal muscular atrophy in Germany Awareness, knowledge, and attitudes about SMA Health related quality of life in adult patients SMA Exercise-induced neuroprotection in SMA-like mice Duchenne muscular dystrophy Simvastatin: a potential new therapy for DMD Corticosteroids for the treatment of Duchenne muscular dystrophy Characterisation of a myostatin-deficient GRMD (GRippet) model Stomatognathic function in DMD Myasthenia gravis Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis Long-term symptom- and treatment-free with autologous HSCT for severe MG Other neuromuscular diseases and basic research Expanding the phenotypical spectrum of REEP1-associated neuromuscular disorders The first comprehensive global assessment of FOP flare-ups Variability of disease severity in childhood CMT Deep RNA profiling identifies link between circadian genes and collagen VI pathology Engineered iPSC for therapy of LGMD2B Mutations in DNMT3B: possible cause of  D4Z4 derepression Visualising changes in Na+ and Cl- homeostasis with 7-T MR imaging Value of MRI in clinical trials In brief AFM-Téléthon: International Call for Translational Research Projects on RNA The AFM-Téléthon has announced the launch of its first international call for proposals for Translational Research Projects on RNA as a therapeutic target or therapeutic product. It is opened from 17 May to 28 June 2016. Read more Italian Telethon Undiagnosed Diseases Program The Telethon Undiagnosed Diseases Program (UDP) pursues the goal of providing a diagnosis to paediatric patients with a genetic disease without a name. Read more Science Award for Rare Diseases 2016 This award honours outstanding research projects in the area of rare diseases affecting children. Applications must be submitted electronically by June 30, 2016. Read more Job opportunities Post-doctoral positions are available at University of Oxford (UK) and at Mondor Institute of Biomedical Research (France). Read more Latest Publications from the Institute Weiss, J. M.,Robinet, M.,Aricha, R.,Cufi, P.,Villeret, B.,Lantner, F.,Shachar, I.,Fuchs, S.,Souroujon, M. C.,Berrih-Aknin, S.,Le Panse, R. Novel CXCL13 transgenic mouse: inflammation drives pathogenic effect of CXCL13 in experimental myasthenia gravis Oncotarget, 2016 ; 7 (7) : 7550-62 Maggio, I.,Stefanucci, L.,Janssen, J. M.,Liu, J.,Chen, X.,Mouly, V.,Goncalves, M. A. Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations Nucleic Acids Res, 2016 ; 44 (3) : 1449-70 Marsollier, A. C.,Ciszewski, L.,Mariot, V.,Popplewell, L.,Voit, T.,Dickson, G.,Dumonceaux, J. Antisense targeting of 3'end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for Facioscapulohumeral Dystrophy: a new gene silencing approach Hum Mol Genet, 2016 ; 25 (8) : 1468-78 Possidonio, A. C.,Soares, C. P.,Fontenelle, M.,Morris, E. R.,Mouly, V.,Costa, M. L.,Mermelstein, C. Knockdown of Lmo7 inhibits chick myogenesis FEBS Lett, 2016 ; 590 (3) : 317-29 Marty, B.,Baudin, P. Y.,Reyngoudt, H.,Azzabou, N.,Araujo, E. C.,Carlier, P. G.,de Sousa, P. L. Simultaneous muscle water T and fat fraction mapping using transverse relaxometry with stimulated echo compensation NMR Biomed, 2016 ; 29 (4) : 431-43 Allenbach, Y.,Leroux, G.,Suarez-Calvet, X.,Preusse, C.,Gallardo, E.,Hervier, B.,Rigolet, A.,Hie, M.,Pehl, D.,Limal, N.,Hufnagl, P.,Zerbe, N.,Meyer, A.,Aouizerate, J.,Uzunhan, Y.,Maisonobe, T.,Goebel, H. H.,Benveniste, O.,Stenzel, W.,French Myositis, Network Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression Am J Pathol, 2016 ; 186 (3) : 691-700 Hogrel, J. Y.,Wary, C.,Moraux, A.,Azzabou, N.,Decostre, V.,Ollivier, G.,Canal, A.,Lilien, C.,Ledoux, I.,Annoussamy, M.,Reguiba, N.,Gidaro, T.,Le Moing, A. G.,Cardas, R.,Voit, T.,Carlier, P. G.,Servais, L. Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy Neurology, 2016 ; 86 (11) : 1022-30 Willkomm, L.,Heredia, R.,Hoffmann, K.,Wang, H.,Voit, T.,Hoffman, E. P.,Cirak, S. Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia J Hum Genet, 2016 ; : Stergiou, C.,Lazaridis, K.,Zouvelou, V.,Tzartos, J.,Mantegazza, R.,Antozzi, C.,Andreetta, F.,Evoli, A.,Deymeer, F.,Saruhan-Direskeneli, G.,Durmus, H.,Brenner, T.,Vaknin, A.,Berrih-Aknin, S.,Behin, A.,Sharshar, T.,De Baets, M.,Losen, M.,Martinez-Martinez, P.,Kleopa, K. A.,Zamba-Papanicolaou, E.,Kyriakides, T.,Kostera-Pruszczyk, A.,Szczudlik, P.,Szyluk, B.,Lavrnic, D.,Basta, I.,Peric, S.,Tallaksen, C.,Maniaol, A.,Gilhus, N. E.,Casasnovas Pons, C.,Pitha, J.,Jakubikova, M.,Hanisch, F.,Bogomolovas, J.,Labeit, D.,Labeit, S.,Tzartos, S. J. Titin antibodies in "seronegative" myasthenia gravis - A new role for an old antigen J Neuroimmunol, 2016 ; 292 : 108-15 Bouchereau, J.,Barrot, S. V.,Dupre, T.,Moore, S. E.,Cardas, R.,Capri, Y.,Gaignard, P.,Slama, A.,Delanoe, C.,de Baulny, H. O.,Seta, N.,Schiff, M.,Servais, L. Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants JIMD Rep, 2016 ; : Wahbi, K.,Sebag, F. A.,Lellouche, N.,Lazarus, A.,Becane, H. M.,Bassez, G.,Stojkovic, T.,Fayssoil, A.,Laforet, P.,Behin, A.,Meune, C.,Eymard, B.,Duboc, D. Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome Neuromuscul Disord, 2016 ; 26 (3) : 227-33 Davignon, L.,Chauveau, C.,Julien, C.,Dill, C.,Duband-Goulet, I.,Cabet, E.,Buendia, B.,Lilienbaum, A.,Rendu, J.,Minot, M. C.,Guichet, A.,Allamand, V.,Vadrot, N.,Faure, J.,Odent, S.,Lazaro, L.,Leroy, J. P.,Marcorelles, P.,Dubourg, O.,Ferreiro, A. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease Hum Mol Genet, 2016 ; 25 (8) : 1559-73 Dragin, N.,Bismuth, J.,Cizeron-Clairac, G.,Biferi, M. G.,Berthault, C.,Serraf, A.,Nottin, R.,Klatzmann, D.,Cumano, A.,Barkats, M.,Le Panse, R.,Berrih-Aknin, S. Estrogen-mediated downregulation of AIRE influences sexual dimorphism in autoimmune diseases J Clin Invest, 2016 ; 126 (4) : 1525-37 Behin, A.,Acquaviva-Bourdain, C.,Souvannanorath, S.,Streichenberger, N.,Attarian, S.,Bassez, G.,Brivet, M.,Fouilhoux, A.,Labarre-Villa, A.,Laquerriere, A.,Perard, L.,Kaminsky, P.,Pouget, J.,Rigal, O.,Vanhulle, C.,Eymard, B.,Vianey-Saban, C.,Laforet, P. Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease Rev Neurol (Paris), 2016 ; : Newsletter subscription Find out every two months the news from myology Every two months, the newsletter from the Institute of Myology informed you on developments in myology research, with a summary of the latest scientifics news, medical, political and community about neuromuscular diseases. You can read our newsletter by subscribing. You can unsubscribe here. Also follow our news on social networks Legal This is the newsletter of current medical science from the Institute of Myology. It is published every two months. Chief Editor: Gaëlle Barrier Editorial Board: Marianne Perreau-Saussine; J. Andoni Urtizberea. Redaction: Racquel N. Cooper; Anne Berthomier. Also participate: Nathalie Haslin. Do you have any questions? Would you like to share some news? Please contact us. © 2015 - AFM - Institut de Myologie. ISSN 1772-9866