Newsletter #58

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	Newsletter #58

Welcome to the 58th edition of our Newsletter! As the 30th Telethon draws near, why not take part in a great initiative: show your support by sharing your story or your supportive message on the Generation Telethon website? You can also display the Generation Telethon logo on your Facebook or Twitter account. We look forward to your participation, because we are All Generation Telethon!
At the Institute
10 and 11 October, Science Fair at the Institute The Institute is organising a course about muscle: “Muscle in all its states,” which consists of three workshops. Several laboratories have agreed to open their doors to familiarise people with their work, share their questions and experiment with visitors. Read more
Launch of the 30th Telethon in the Baltard Pavilion On Saturday, September 17, nearly 1,500 people visited the Baltard Pavillon to attend the national launch of Telethon 2016. Together with ambassador families, volunteers and researchers, including Antoine Muchir from the Institute, were present to embody Generation Telethon. Read more
Operation 1,000 researchers: over 1000 requests for assistance The operation “1000 researchers” 2016 will be held from 3 to 30 November. Since September 7, teachers in secondary schools have had the opportunity to enrol on a dedicated platform, and more than 1,000 requests for assistance have been solicited. Read more
Our latest news
Relationship between muscle impairment, postural stability, and gait parameters assessed with lower-trunk accelerometry in DM1 Researchers have focused on walking difficulties and balance problems in a population of 22 adults affected in DM1. These disorders are of multi-factorial origin and remain difficult to comprehend. Read more
Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing The authors report a novel mechanism of alternative splicing deregulation that may play a role in various other diseases with nuclear inclusions or foci containing an RNA binding protein. Read more
Natural history of cardiac and respiratory involvement, prognosis and predictive factors for long-term survival in adult patients with LGMD type 2C and 2D Clinicians aimed to describe the long-term cardiac and respiratory follow-up of 34 patients with LGMD 2C and 2D, the most frequent forms of sarcoglycanopathy in France. Read more
Longitudinal functional and NMR assessment of upper limbs in DMD The aim of this study was to describe the evolution of upper limbs muscles through function tests (Motor Function Measure (MFM), MyoTools…) as well as NMR imaging and spectroscopy. Read more
Atrial flutter in DM1: Patient characteristics and clinical outcome Clinicians focused on the occurrence and the problems caused by atrial flutter in a large cohort of 929 adult patients with DM1. Read more
Availability of the French version of the Myasthenia Gravis Quality of Life Scale (MG-QOL 15) Here, translation and cross-cultural adaption of the French Myasthenia Gravis Quality of Life Scale (MG-QOL 15) followed by reliability and validity evaluations were performed in 125 French myasthenic patients. Read more
Thymic germinal centers and corticosteroids in Myasthenia Gravis: an immunopathological study in 1035 cases and a critical review From a French Myasthenia gravis database, a critical analysis of the data on thymus in a vast cohort of 1035 MG patients without thymoma was conducted. Read more
International breaking news
Open-label extension study of drisapersen in DMD Drisapersen induces exon 51 skipping during dystrophin pre-mRNA splicing and allows synthesis of partially functional dystrophin in DMD patients with amenable mutations. Read more
EXONDYS 51™ (eteplirsen) authorised in the US EXONDYS 51™ (eteplirsen), a therapy aimed at skipping exon 51 of the DMD gene involved in Duchenne muscular dystrophy (DMD), has received accelerated approval in the United States. Read more
Spinal muscular atrophy Identification of 7 target genes as potential SMA targets using integrative transcriptomic analysis MicroRNAs as potential noninvasive biomarkers in SMA Specific mutation spectrum of SMN1 in Chinese SMA
Myasthenia gravis Cortactin antibodies in patients with double-seronegative myasthenia gravis Development and validation of the Myasthenia Gravis Impairment Index Beneficial effects of subcutaneous immunoglobulin therapy in the chronic management of myasthenia gravis
Duchenne muscular dystrophy Ex-myomiRs: potential disease markers for DMD? Results of a dose escalation safety trial with ACE-031 in Duchenne muscular dystrophy Identification of potential underlying risk factors for premature death in Duchenne muscular dystrophy: focus on North East England. Cystatin C is associated with cardiac dysfunction in DMD patients Abnormal distribution of GABAA receptors in the brain of DMD patients A microscaled in vitro model of muscle regeneration may predict efficacy of new therapies aimed at restoring dystrophin
Facioscapulohumeral muscular dystrophy Antisense morpholino oligonucleotides technology is a potential therapeutic option for FSHD Investigating the safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy
Other neuromuscular diseases Identification of a large interchromosomal insertion as the cause Charcot-Marie-Tooth Neuropathy CMTX3 New developments in genetics of myositis TOR1AIP1 mutations associated with cardiac failure Expanding the phenotypic spectrum of caveolinopathies Alterations of tendon ECM in Ullrich CMD Anti-HMGCR antibodies as a biomarker for immune-mediated necrotizing myopathies Myotonic dystrophy type 1 and compliance with non-invasive ventilation A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency
In brief
Rare Barometer Voices EURORDIS-Rare Diseases Europe has launched a new survey on the impact of rare diseases on daily life. Read more
Cure through innovation Every year, the “Cure through innovation” booklet synthetically presents the AFM-Téléthon, particularly highlighting the key points of the annual report. Read more
International GNE Myopathy Disease Monitoring Program (GNEM-DMP) registry has released its fourth newsletter in a range of different languages The GNE registry is an international patient self-reported registry. All GNE patients over 18 years old worldwide are welcomed. Read more
European Researchers' Night: exploring science whilst having fun The European Researchers' Night is a European initiative funded under the Marie Skłodowska-Curie actions to enhance researchers' public recognition, and to stimulate interest in research careers, especially amongst young people. All the events will take place - simultaneously - on Friday 30 September, in over 250 cities across Europe and neighbouring countries. Read more
Summer School of Myology - 15-23 June 2017 The 20th Summer School of Myology will be held from 15th to 23th, 2017. To apply, please contact Dr. J. Andoni URTIZBEREA, MD. ja.urtizberea@free.fr. Read more
Job opportunities University of Florida and Yale University offer postdoctoral positions, Nestlé Institute is seeking a muscle stem cell R&D specialist. Read more
Latest Publications from the Institute
van der Ploeg, A.,Carlier, P. G.,Carlier, R. Y.,Kissel, J. T.,Schoser, B.,Wenninger, S.,Pestronk, A.,Barohn, R. J.,Dimachkie, M. M.,Goker-Alpan, O.,Mozaffar, T.,Pena, L. D.,Simmons, Z.,Straub, V.,Guglieri, M.,Young, P.,Boentert, M.,Baudin, P. Y.,Wens, S.,Shafi, R.,Bjartmar, C.,Thurberg, B. L. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study Mol Genet Metab, 2016 ; (SP) : Musset, L.,Allenbach, Y.,Benveniste, O.,Boyer, O.,Bossuyt, X.,Bentow, C.,Phillips, J.,Mammen, A.,Van Damme, P.,Westhovens, R.,Ghirardello, A.,Doria, A.,Choi, M. E.,Fritzler, M. J.,Schmeling, H.,Muro, Y.,La Torre, I. G.,Ortiz-Villalvazo, M. A.,Bizzaro, N.,Infantino, M.,Imbastaro, T.,Peng,,Wang, G.,Vencovsky, J.,Klein, M.,Krystufkova, O.,Franceschini, F.,Fredi, M.,Hue, S.,Belmondo, T.,Danko, K.,Mahler, M. Anti-HMGCR antibodies as a biomarker for immune-mediated necrotizing myopathies: A history of statins and experience from a large international multi-center study Autoimmun Rev, 2016 ; (SP) : Klein, P.,Oloko, M.,Roth, F.,Montel, V.,Malerba, A.,Jarmin, S.,Gidaro, T.,Popplewell, L.,Perie, S.,Lacau St Guily, J.,de la Grange, P.,Antoniou, M. N.,Dickson, G.,Butler-Browne, G.,Bastide, B.,Mouly, V.,Trollet, C. Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing Nucleic Acids Res, 2016 ; (SP) : Hervier, B.,Perez, M.,Allenbach, Y.,Devilliers, H.,Cohen, F.,Uzunhan, Y.,Ouakrim, H.,Dorgham, K.,Meritet, J. F.,Longchampt, E.,Stenzel, W.,Cremer, I.,Benveniste, O.,Vieillard, V. Involvement of NK Cells and NKp30 Pathway in Antisynthetase Syndrome J Immunol, 2016 ; 197 (5) : 1621-30 Bradburn, S.,McPhee, J. S.,Bagley, L.,Sipila, S.,Stenroth, L.,Narici, M. V.,Paasuke, M.,Gapeyeva, H.,Osborne, G.,Sassano, L.,Meskers, C. G.,Maier, A. B.,Hogrel, J. Y.,Barnouin, Y.,Butler-Browne, G.,Murgatroyd, C. Association between osteocalcin and cognitive performance in healthy older adults Age Ageing, 2016 ; (SP) : Bhattarai, S.,Ghannam, K.,Krause, S.,Benveniste, O.,Marg, A.,de Bruin, G.,Xin, B. T.,Overkleeft, H. S.,Spuler, S.,Stenzel, W.,Feist, E. The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies J Autoimmun, 2016 ; (SP) : Roy, P.,Rau, F.,Ochala, J.,Messeant, J.,Fraysse, B.,Laine, J.,Agbulut, O.,Butler-Browne, G.,Furling, D.,Ferry, A. Dystrophin restoration therapy improves both the reduced excitability and the force drop induced by lengthening contractions in dystrophic mdx skeletal muscle Skelet Muscle, 2016 ; 6 (23) : 1-17 Harris, E.,Bladen, C. L.,Mayhew, A.,James, M.,Bettinson, K.,Moore, U.,Smith, F. E.,Rufibach, L.,Cnaan, A.,Bharucha-Goebel, D. X.,Blamire, A. M.,Bravver, E.,Carlier, P. G.,Day, J. W.,Diaz-Manera, J.,Eagle, M.,Grieben, U.,Harms, M.,Jones, K. J.,Lochmuller, H.,Mendell, J. R.,Mori-Yoshimura, M.,Paradas, C.,Pegoraro, E.,Pestronk, A.,Salort-Campana, E.,Schreiber-Katz, O.,Semplicini, C.,Spuler, S.,Stojkovic, T.,Straub, V.,Takeda, S.,Rocha, C. T.,Walter, M. C.,Bushby, K.,Jain, C. O. S. Consortium The Clinical Outcome Study for dysferlinopathy: An international multicenter study Neurol Genet, 2016 ; 2 (4) : e89 Benveniste, O.,Stenzel, W.,Allenbach, Y. Advances in serological diagnostics of inflammatory myopathies Curr Opin Neurol, 2016 ; 29 (5) : 662-73 Fayssoil, A.,Lazarus, A.,Wahbi, K.,Ogna, A.,Nardi, O.,Lofaso, F.,Clair, B.,Orlikowski, D.,Annane, D. Cardiac implantable electronic devices in tracheotomized muscular dystrophy patients: Safety and risks Int J Cardiol, 2016 ; 222 : 975-977 Alves, S.,Marais, T.,Biferi, M. G.,Furling, D.,Marinello, M.,El Hachimi, K.,Cartier, N.,Ruberg, M.,Stevanin, G.,Brice, A.,Barkats, M.,Sittler, A. Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins Mol Neurodegener, 2016 ; 11 (1) : 1-20

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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. © 2016 - AFM - Institut de Myologie. ISSN 1772-9866