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Les progrès de la recherche sont l'unique espoir pour les patients de trouver des thérapies efficaces!
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Soutenez la recherche dans le domaine des maladies génétiques rares!
MDA clinical and scientific conference
Dallas, USA, 19-22 March 2023
Abstract submission open
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International Conference on Muscle Wasting
Ascona, 11-16 September 2022
This meeting will focus on the intersection between basic aging mechanisms and their effect on skeletal muscle disease - particular focus will include cachexia, frailty and sarcopenia.
Registration until August 28th
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Grant opportunity
MDF will prioritize funding at least one project focused on DM2 and will accept and consider proposals for both DM1 and DM2.
Deadline for submissions: September 9th
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19th IIM Meeting
Assisi, Italy, 20-23 October 2022
The Interuniversity Institute of Myology holds its 19th meeting, an invaluable opportunity to discuss scientific issues in the field of myology. Dedicated Advanced Myology training session reserved for trainees under 35 years.
Registration and abstracts extended until August 29th
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Early Career Programme
Interested in participating in one of the upcoming ENMC workshops? If you are a young scientist (up to 5 years from your PhD defense) you may be eligible for a free participation.
List of upcoming ENMC workshops
Young Scientists Programme, conditions and guidelines
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26. Kongress des Medizinisch-Wissenschaftlichen Beirates der DGM
Essen, 22-25 March 2023
This meeting will be in german.
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New papers
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SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
Lone MA, Aaltonen MJ, Zidell A, Pedro HF, Morales Saute JA, Mathew S, Mohassel P, Bonnemann CG, Shoubridge EA, Hornemann T.
J Clin Invest. 2022 Jul 28:e161908.
28 juillet 2022
Probing the Interactions of Splicing Regulatory Small Molecules and Proteins with U1 snRNP Using NMR Spectroscopy.
Campagne S, de Vries T, Allain FH.
Methods Mol Biol. 2022;2537:247-262.
22 juillet 2022
Serine Palmitoyltransferase Subunit 3 and Metabolic Diseases.
Lone MA, Bourquin F, Hornemann T.
Adv Exp Med Biol. 2022;1372:47-56
01 juillet 2022
Novel roles of mTORC2 in regulation of insulin secretion by actin filament remodeling.
Blandino-Rosano M, Scheys JO, Werneck-de-Castro JP, Louzada RA, Almaca J, Leibowitz G, Ruegg MA, Hall MN, Bernal-Mizrachi E.
Am J Physiol Endocrinol Metab. 2022 Jun 20.
20 juin 2022
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH).
Riazi S, Bersselaar LRVD, Islander G, Heytens L, Snoeck MMJ, Bjorksten A, Gillies R, Dranitsaris G, Hellblom A, Treves S, Kunst G, Voermans NC, Jungbluth H.
Neuromuscul Disord. 2022 Jun...
11 juin 2022
Development and early diagnosis of critical illness myopathy in COVID-19 associated acute respiratory distress syndrome
Rodriguez B, Branca M, Gutt-Will M, Roth M, Söll N, Nansoz S, Cameron DR, Tankisi H, Tan SV, Bostock H, Raabe A, Schefold JC, Jakob SM, Z'Graggen WJ.
J Cachexia Sarcopenia Muscle. 2022...
01 juin 2022
Activation and Migration of Human Skeletal Muscle Stem Cells In Vitro Differently Rely on Calcium Signals.
Tollance A, Koenig S, Liaudet N, Frieden M.
Cells. 2022 May 19;11(10):1689.
19 mai 2022
Urolithin A improves muscle strength, exercise performance, and biomarkers of mitochondrial health in a randomized trial in middle-aged adults.
Singh A, D'Amico D, Andreux PA, Fouassier AM, Blanco-Bose W, Evans M, Aebischer P, Auwerx J, Rinsch C.
Cell Rep Med. 2022 May 17;3(5):100633.
17 mai 2022
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland.
Tscherter A, Rüsch CT, Baumann D, Enzmann C, Hasselmann O, Jacquier D, Jung HH, Kruijshaar ME, Kuehni CE, Neuwirth C, Stettner GM, Klein A; Swiss-Reg-NMD group.
Neuromuscul Disord. 2022...
05 mai 2022
International Validation of the Erasmus Guillain-Barré Syndrome Respiratory Insufficiency Score.
Doets AY, Walgaard C, Lingsma HF, Islam B, Papri N, Yamagishi Y, Kusunoki S, Dimachkie MM, Waheed W, Kolb N, Gorson KC, Jacobs BC; IGOS Consortium.
Ann Neurol. 2022 Apr;91(4):521-531
20 avril 2022