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Newsletter #65
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The Institute of Myology wishes you a very happy new year 2018!
Welcome to the 65th issue of our newsletter!
The Telethon 2017 ended on a counter of more than 75 million euros. A falling number that finds its major explanation in the attention naturally paid to the funeral of Johnny Hallyday, an extremely popular French singer. Thank you to all those who contributed and participated.
Next February 28th, the 11th edition of Rare Disease Day will take place. Take part in an interactive face paint social media campaign to raise awareness of rare diseases and show your support for the rare disease community! “Show your rare. Show you care.”
We hope you enjoy this first newsletter of the year and take this opportunity to present you our best wishes for 2018.
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At the Institute |
Achievements and perspectives – An interview with Marianne Perreau-Saussine
Marianne Perreau-Saussine, General Secretary of the Institute of Myology, highlights the main achievements of the institute during 2017 and outlines the perspectives for 2018.
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Major European grant for research into rare diseases: Pooling resources for diagnostics of the future
A large european consortium, including Centre de Recherche en Myologie, has acquired a € 15 million grant for the SOLVE-RD research program in order to improve the diagnosis of rare diseases.
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The Achilles heel of the muscle cell – Interview with S. Vassilopoulos
Working in the “Physiopathology & Therapy of Autosomal Dominant Centronuclear Myopathy” team led by Marc Bitoun, Stéphane Vassilopoulos is interested in muscle-cell membrane proteins, particularly, clathrin and its implication in myopathies.
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Recent recruitments of patients at I-Motion
In Italpharmaco (DMD), Firefish et Sunfish (SMA) clinical trials, I-Motion is recruiting patients.
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Pierre Klein awarded 3 prizes
Pierre Klein, a former PhD student at the Institute of Myology, has been awarded 3 prizes within the space of a few months.
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Our latest news |
1 H NMRS as a biomarker to better characterize skeletal muscle pH dysregulation in DMD
In recent years, quantitative nuclear magnetic resonance imaging and spectroscopy (NMRI and NMRS) have been used more systematically as outcome measures in natural history and clinical trial studies for Duchenne muscular dystrophy (DMD).
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Toll-like receptor signalling and ectopic lymphoid development in Myasthenia Gravis
The thymus of Myasthenia gravis patients is very often abnormal and possesses all the characteristics of tertiary lymphoid organs (neoangiogenesis processes, overexpression of inflammatory cytokines and chemokines, and infiltration of B lymphocytes leading to ectopic germinal center (GC) development).
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Pompe disease and enzyme replacement therapy in severely affected adults: The French experience
The French Pompe Study Group reviewed adults with Pompe disease whose enzyme therapy was started at a time when they were all severely affected, both in terms of motor and respiratory functions.
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Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase
Using bioinformatics analysis and protein engineering, the authors of this study developed transgenes encoding GAA that could be expressed and secreted by hepatocytes.
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Female carriers of myotubular myopathy: a varied and frequent symptomatology
An analysis of clinical, genetic and histopathological data was performed in seventeen new cases. Together with twenty-six previously reported cases, the analysis highlighted a wide spectrum of phenotypes.
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Focal myositis: An unknown disease
Focal myositis are inflammatory muscle diseases of unknown origin. Contrary to the other idiopathic inflammatory myopathies, they are restricted to a single muscle or a muscle group.
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Centronuclear myopathy linked to the RYR1 gene: an emerging form of congenital myopathy
An international consortium of researchers described a recent discovery associating centronuclear lesions and mutations of the RYR1 gene, the latter coding for a ryanodine receptor.
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More breaking news |
Nusinersen improves survival and motor function in infantile-onset SMA
Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene.
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Collagen VI-related congenital muscular dystrophies: restoring normal collagen VI
A research team has succeeded in re-expressing normal collagen VI in cellular models of collagen VI-related myopathy.
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Natural history of infantile-onset SMA
Clinical trials in patients with infantile-onset spinal muscular atrophy (SMA) require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes.
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Duchenne muscular dystrophy
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Spinal muscular atrophy
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Myasthenia gravis
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Metabolic diseases
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Inflammatory myopathies
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Myotubular Myopathy
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Other neuromuscular diseases and basic research
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In brief |
21st Paris Summer School of Myology
The 21st Summer School of Myology will take place at the Institut de Myologie from Monday June 18th to Saturday June 23rd 2018. Applications are currently being received will be assessed until mid-May 2018.
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Rare Disease Day 2018 – Get involved!
Rare Disease Day 2018 is on 28 February, 10 years since it first took place in 2008! The 2018 campaign focuses patients as proactive actors in research: they kick start, drive, and organise research, as well as proactively providing data.
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AFM-Téléthon call for proposals
This International Call for Proposals is open to both French and foreign groups. Applications for 2018 PhD Proposals are opened until April 2018.
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WMS 23 - Mendoza, Argentina
The 23rd International Annual Congress of the World Muscle Society (WMS) in 2018 will be held for the second time in South America in the city of Mendoza, Argentina, from October 2-6, 2018.
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ICNMD 2018 - Vienna, Austria
The 15th International Congress on Neuromuscular Diseases will take place in Vienna, Austria, from July 6 – 10, 2018.
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Job opportunity
Prof.Matthew Wood from University of Oxford (UK) is looking for a highly motivated, experienced research assistant to join his lab.
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Latest Publications from the Institute |
Fayssoil, A.,Behin, A.,Ogna, A.,Mompoint, D.,Amthor, H.,Clair, B.,Laforet, P.,Mansart, A.,Prigent, H.,Orlikowski, D.,Stojkovic, T.,Vinit, S.,Carlier, R.,Eymard, B.,Lofaso, F.,Annane, D.
Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders
J Neuromuscul Dis, 2017 ; (SP) :
Ben Yaou, R,Hubert, A.,Nelson, I,Dahlqvist, J R,Gaist, D,Streichenberger, N,Beuvin, M,Krahn, M,Petiot,P,Parisot, F,Michel, F.,Malfatti, E,Romero, N,Carlier, R Y,Eymard, B,Labrune, P,Duno, M.,Krag, T,Cerino, M.,Bartoli, M,Bonne, G,Vissing, J,Laforet, P.,Petit, F
Clinical heterogeneity and phenotype/genotype findings in 5 families with glycogenin 1 deficiency
Neurology Genetics, 2017 ; (SP) :
Lilleker, J. B.,Vencovsky, J.,Wang, G.,Wedderburn, L. R.,Diederichsen, L. P.,Schmidt, J.,Jordan, P.,Benveniste, O.,Danieli, M. G.,Danko, K.,Phuong Thuy, N. T.,Mercado, M. V.,Andersson, H.,Paepe, B.,De Bleecker, J. L.,Maurer, B.,McCann, L. J.,Pipitone, N.,McHugh, N.,Betteridge, Z.,New, P.,Cooper, R. G.,Ollier, W. E.,Lamb, J. A.,Krogh, N. S.,Lundberg, I. E.,Chinoy, H.,all EuroMyositis, contributors
Response to: 'Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria' by Cavagna et al.
Ann Rheum Dis, 2017 ; (SP) :
Ibanez-Julia, M. J.,Berzero, G.,Reyes-Botero, G.,Maisonobe, T.,Lenglet, T.,Slim, M.,Louis, S.,Balaguer, A.,Sanson, M.,Le Guern, E.,Latour, P.,Ricard, D.,Stojkovic, T.,Psimaras, D.
Antineoplastic agents exacerbating Charcot Marie tooth disease: red flags to avoid permanent disability
Acta Oncol, 2017 ; (SP) : 1-9
Benedetti, S.,Uno, N.,Hoshiya, H.,Ragazzi, M.,Ferrari, G.,Kazuki, Y.,Moyle, L. A.,Tonlorenzi, R.,Lombardo, A.,Chaouch, S.,Mouly, V.,Moore, M.,Popplewell, L.,Kazuki, K.,Katoh, M.,Naldini, L.,Dickson, G.,Messina, G.,Oshimura, M.,Cossu, G.,Tedesco, F. S.
Reversible immortalisation enables genetic correction of human muscle progenitors and engineering of next-generation human artificial chromosomes for Duchenne muscular dystrophy
EMBO Mol Med, 2017 ; (SP) :
Bourdenet, G.,Dubourg, B.,Nicol, L.,Mulder, P.,Martinet, J.,Allenbach, Y.,Boitard, C.,Boyer, O.
Value of magnetic resonance imaging for evaluating muscle inflammation: insights from a new mouse model of myositis
Neuropathol Appl Neurobiol, 2017 ; (SP) :
Bradburn, S.,McPhee, J.,Bagley, L.,Carroll, M.,Slevin, M.,Al-Shanti, N.,Barnouin, Y.,Hogrel, J. Y.,Paasuke, M.,Gapeyeva, H.,Maier, A.,Sipila, S.,Narici, M.,Robinson, A.,Mann, D.,Payton, A.,Pendleton, N.,Butler-Browne, G.,Murgatroyd, C.
Dysregulation of C-X-C motif ligand 10 during aging and association with cognitive performance
Neurobiol Aging, 2017 ; 63 : 54-64
Lorant, J.,Saury, C.,Schleder, C.,Robriquet, F.,Lieubeau, B.,Negroni, E.,Leroux, I.,Chabrand, L.,Viau, S.,Babarit, C.,Ledevin, M.,Dubreil, L.,Hamel, A.,Magot, A.,Thorin, C.,Guevel, L.,Delorme, B.,Pereon, Y.,Butler-Browne, G.,Mouly, V.,Rouger, K.
Skeletal Muscle Regenerative Potential of Human MuStem Cells following Transplantation into Injured Mice Muscle
Mol Ther, 2017 ; (SP) :
Allenbach, Y.,Mammen, A. L.,Stenzel, W.,Benveniste, O.
224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14-16 October 2016
Neuromuscul Disord, 2017 ; (SP) :
Stojkovic, T.,Chanut, A.,Laforet, P.,Madelaine, A.,Petit, F.,Romero, N. B.,Malfatti, E.
Severe asymmetric muscle weakness revealing Glycogenin-1 polyglucosan body myopathy
Muscle Nerve, 2017 ; (SP) :
Mariot, V.,Joubert, R.,Hourde, C.,Feasson, L.,Hanna, M.,Muntoni, F.,Maisonobe, T.,Servais, L.,Bogni, C.,Le Panse, R.,Benvensite, O.,Stojkovic, T.,Machado, P. M.,Voit, T.,Buj-Bello, A.,Dumonceaux, J.
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches
Nat Commun, 2017 ; 8 (1) : 1859
Puzzo, F.,Colella, P.,Biferi, M. G.,Bali, D.,Paulk, N. K.,Vidal, P.,Collaud, F.,Simon-Sola, M.,Charles, S.,Hardet, R.,Leborgne, C.,Meliani, A.,Cohen-Tannoudji, M.,Astord, S.,Gjata, B.,Sellier, P.,van Wittenberghe, L.,Vignaud, A.,Boisgerault, F.,Barkats, M.,Laforet, P.,Kay, M. A.,Koeberl, D. D.,Ronzitti, G.,Mingozzi, F.
Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid alpha-glucosidase
Sci Transl Med, 2017 ; 9 (418) :
Captur, G.,Arbustini, E.,Bonne, G.,Syrris, P.,Mills, K.,Wahbi, K.,Mohiddin, S. A.,McKenna, W. J.,Pettit, S.,Ho, C. Y.,Muchir, A.,Gissen, P.,Elliott, P. M.,Moon, J. C.
Lamin and the heart
Heart, 2017 ; (SP) :
Ostergaard, S. T.,Johnson, K.,Stojkovic, T.,Krag, T.,De Ridder, W.,De Jonghe, P.,Baets, J.,Claeys, K. G.,Fernandez-Torron, R.,Phillips, L.,Topf, A.,Colomer, J.,Nafissi, S.,Jamal-Omidi, S.,Bouchet-Seraphin, C.,Leturcq, F.,MacArthur, D. G.,Lek, M.,Xu, L.,Nelson, I.,Straub, V.,Vissing, J.
Limb girdle muscular dystrophy due to mutations in POMT2
J Neurol Neurosurg Psychiatry, 2017 ; (SP) :
Fayssoil, A.,Yaou, R. B.,Ogna, A.,Leturcq, F.,Nardi, O.,Clair, B.,Wahbi, K.,Lofaso, F.,Laforet, P.,Duboc, D.,Orlikowski, D.,Annane, D.
Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation
ESC Heart Fail, 2017 ; 4 (4) : 527-534
Stemmerik, M. G.,Madsen, K. L.,Laforet, P.,Buch, A. E.,Vissing, J.
Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency
Neurology, 2017 ; (SP) :
Allamand, V.
Muscle Membrane Serendipity conference : Past, Present, and Future Conference1 - 20-23 juillet 2017, Iowa City
Med Sci (Paris), 2017 ; 33 Hors Serie : 67
Reyngoudt, H.,Turk, S.,Carlier, P. G.
(1) H NMRS of carnosine combined with (31) P NMRS to better characterize skeletal muscle pH dysregulation in Duchenne muscular dystrophy
NMR Biomed, 2017 ; (SP) :
Finkel, R. S.,Mercuri, E.,Darras, B. T.,Connolly, A. M.,Kuntz, N. L.,Kirschner, J.,Chiriboga, C. A.,Saito, K.,Servais, L.,Tizzano, E.,Topaloglu, H.,Tulinius, M.,Montes, J.,Glanzman, A. M.,Bishop, K.,Zhong, Z. J.,Gheuens, S.,Bennett, C. F.,Schneider, E.,Farwell, W.,De Vivo, D. C.,Endear Study Group
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
N Engl J Med, 2017 ; 377 (18) : 1723-1732
Ruiz-Del-Yerro, E.,Garcia-Jimenez, I.,Mamchaoui, K.,Arechavala-Gomeza, V.
Myoblots: dystrophin quantification by in-cell western assay for a streamlined development of DMD treatments
Neuropathol Appl Neurobiol, 2017 ; (SP) :
Sayah, S.,Rotge, J. Y.,Francisque, H.,Gargiulo, M.,Czernecki, V.,Justo, D.,Lahlou-Laforet, K.,Hahn, V.,Pandolfo, M.,Pelissolo, A.,Fossati, P.,Durr, A.
Personality and Neuropsychological Profiles in Friedreich Ataxia
Cerebellum, 2017 ; (SP) :
Kutchukian, C.,Szentesi, P.,Allard, B.,Trochet, D.,Beuvin, M.,Berthier, C.,Tourneur, Y.,Guicheney, P.,Csernoch, L.,Bitoun, M.,Jacquemond, V.
Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy
J Physiol, 2017 ; (SP) :
Farre Garros, R.,Paul, R.,Connolly, M.,Lewis, A.,Garfield, B. E.,Natanek, S. A.,Bloch, S.,Mouly, V.,Griffiths, M. J.,Polkey, M. I.,Kemp, P. R.
miR-542 Promotes Mitochondrial Dysfunction and SMAD Activity and is Raised in ICU Acquired Weakness
Am J Respir Crit Care Med, 2017 ; (SP) :
Biancalana, V.,Scheidecker, S.,Miguet, M.,Laquerriere, A.,Romero, N. B.,Stojkovic, T.,Abath Neto, O.,Mercier, S.,Voermans, N.,Tanner, L.,Rogers, C.,Ollagnon-Roman, E.,Roper, H.,Boutte, C.,Ben-Shachar, S.,Lornage, X.,Vasli, N.,Schaefer, E.,Laforet, P.,Pouget, J.,Moerman, A.,Pasquier, L.,Marcorelle, P.,Magot, A.,Kusters, B.,Streichenberger, N.,Tranchant, C.,Dondaine, N.,Schneider, R.,Gasnier, C.,Calmels, N.,Kremer, V.,Nguyen, K.,Perrier, J.,Kamsteeg, E. J.,Carlier, P.,Carlier, R. Y.,Thompson, J.,Boland, A.,Deleuze, J. F.,Fardeau, M.,Zanoteli, E.,Eymard, B.,Laporte, J.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Acta Neuropathol, 2017 ; 134 (6) : 889-904
Cid-Diaz, T.,Santos-Zas, I.,Gonzalez-Sanchez, J.,Gurriaran-Rodriguez, U.,Mosteiro, C. S.,Casabiell, X.,Garcia-Caballero, T.,Mouly, V.,Pazos, Y.,Camina, J. P.
Obestatin controls the ubiquitin-proteasome and autophagy-lysosome systems in glucocorticoid-induced muscle cell atrophy
J Cachexia Sarcopenia Muscle, 2017 ; (SP) :
Querin, G.,Corcia, P.,Lenglet, T.,Stojkovic, T.,Leguern, E.,Cazeneuve, C.,Pradat, P. F.
Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant
Rev Neurol (Paris), 2017 ; (SP) :
Dany, A.,Rapin, A.,Lavrard, B.,Saout, V.,Reveillere, C.,Bassez, G.,Tiffreau, V.,Pereon, Y.,Sacconi, S.,Eymard, B.,Drame, M.,Jolly, D.,Novella, J. L.,Hardouin, J. B.,Boyer, F. C.
Quality of Life in Patients with Genetic Neuromuscular Disease Questionnaire: Rasch validation of the French Version (QoL-gNMD)
Muscle Nerve, 2017 ; (SP) :
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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. |
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This is the newsletter of current medical science from the Institute of Myology. It is published every two months. Chief Editor: Marie-Pierre Verrier Editorial Board: Marianne Perreau-Saussine; J. Andoni Urtizberea. Redaction: Racquel N. Cooper; Anne Berthomier. Also participate: Nathalie Haslin; Hala Alameddine; Delphine Alibert. Do you have any questions? Would you like to share some news? Please contact us. © 2018 - AFM - Institut de Myologie. ISSN 1772-9866 |
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