European Clinical Research Network for Myotonic Dystrophies
14-15 April 2025, Munich
Join the kick-off meeting of the Euro DM CRN! Some travel grants are available.
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Informationsveranstaltung
Vienna, 21-22 February 2025, hybrid, in german
Erster Tag für Health Care Professionals, zweiter Tag für Menschen mit einer Muskelerkrankung und für deren Angehörige.
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Grant opportunity
FARA supports research through funding competitive grants across the spectrum from basic research through drug development and clinical research programs in Friedreich's Ataxia.
Letter of Intent by 15 February 2025, full proposal by 15 April 2025
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Grant opportunity
The European Rare Disease Research Alliance (ERDERA) is launching a first call for proposals, in which researchers based in Switzerland can take part.The aim of this call is “Pre-clinical therapy studies for rare diseases using small molecules and biologicals – development and validation”
Letter of Interest by 13 February 2025, full proposal 9 July 2025
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International Conference on Muscle Wasting
Ascona, 21-26 September 2025
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.
Abstract submission until June 13
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FSHD International Research Congress
12-13 June 2025, Amsterdam, The Netherlands
With the recent advances in FSHD research and clinical advances, this conference has become catalytic in translating ideas into potential therapies.
Registration by 15 May 2025
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Rare Disease Day 2025
1. März 2025, Luzerner Kantonsspital.
Das diesjährige Hauptthema ist die Patientenbeteiligung.
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ENMC workshops
The call for regular workshop applications is open.
The call for themed workshop application is open and focuses on two topics: 1. Challenges of complex drugs and therapies in neuromuscular disorders; 2. Artificial intelligence (AI) and/or data sharing in neuromuscular disorders
Deadline: 1 March 2025
How to submit a workshop application
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New papers
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5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy.
Ruiz A, Noreen F, Meier H, Buczak K, Zorzato F, Treves S.
Hum Mol Genet. 2025 Feb 13:ddaf021. doi: 10.1093/hmg/ddaf021. Online ahead of print.
13 Februar 2025
Mitochondrial calcium uptake declines during aging and is directly activated by oleuropein to boost energy metabolism and skeletal muscle performance.
Gherardi G, Weiser A, Bermont F, Migliavacca E, Brinon B, Jacot GE, Hermant A, Sturlese M, Nogara L, Vascon F, De Mario A, Mattarei A, Garratt E, Burton M, Lillycrop K, Godfrey KM, Cendron L, Barron...
07 Februar 2025
B cell depletion attenuates CD27 signaling of T helper cells in multiple sclerosis.
Ulutekin C, Galli E, Schreiner B, Khademi M, Callegari I, Piehl F, Sanderson N, Kirschenbaum D, Mundt S, Filippi M, Furlan R, Olsson T, Derfuss T, Ingelfinger F, Becher B.
Cell Rep Med. 2024 Jan...
03 Februar 2025
Spinal cord gray matter atrophy is associated with disability in spinal muscular atrophy.
Kesenheimer EM, Wendebourg MJ, Weidensteiner C, Sander L, Weigel M, Haas T, Fischer D, Neuwirth C, Braun N, Weber M, Granziera C, Sinnreich M, Bieri O, Schlaeger R.
J Neurol. 2025 Jan 7;272(1):102.
24 Januar 2025
275th ENMC international workshop: Seronegative myasthenia gravis: An update paradigm for diagnosis and management, 9-11 February 2024, Hoofddorp, the Netherlands.
Evoli A, Palace J, Spagni G, Cheli M, Ruiter A, Verschuuren J, Maggi L; 275th ENMC study group.
Neuromuscul Disord. 2024 Nov;44:104468.
08 Dezember 2024
Cytosolic N6AMT1-dependent translation supports mitochondrial RNA processing.
Foged MM, Recazens E, Chollet S, Lisci M, Allen GE, Zinshteyn B, Boutguetait D, Münch C, Mootha VK, Jourdain AA.
Proc Natl Acad Sci U S A. 2024 Nov 19;121(47):e2414187121.
14 November 2024
GLUD1 determines murine muscle stem cell fate by controlling mitochondrial glutamate levels.
Soro-Arnáiz I, Fitzgerald G, Cherkaoui S, Zhang J, Gilardoni P, Ghosh A, Bar-Nur O, Masschelein E, Maechler P, Zamboni N, Poms M, Cremonesi A, Garcia-Cañaveras JC, De Bock K, Morscher RJ.
Dev Cell....
04 November 2024
Mitochondrial Maintenance in Skeletal Muscle.
de Smalen LM, Handschin C.
Cold Spring Harb Perspect Biol. 2024 Oct 21:a041514. doi: 10.1101/cshperspect.a041514. Online ahead of print.
01 November 2024
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B,...
30 Oktober 2024
Cytosine methylation flags mitochondrial RNA for degradation.
Recazens E, Jourdain AA.
Trends Biochem Sci. 2024 Oct;49(10):843-845.
09 Oktober 2024