Informationsveranstaltung
Vienna, 14.-15. June 2024, hybrid, in german
Thema dieses Jahres ist „Innovation und Versorgung“. Erster Tag für Health Care Professionals, zweiter Tag für Menschen mit einer Muskelerkrankung und für deren Angehörige.
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Grant opportunity
The SMA Europe call for operating grants and postdoctoral fellowships is now open.
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18th International Conference on Neuromuscular Diseases
Perth, 25-29 October 2024
This edition will be dedicated to the rapidly evolving area of precision medicine and highlight the recent successes in this field and the great potential for the development of new therapies for other currently incurable neuromuscular diseases.
Late breaking abstracts submission opens on June 3rd
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Award
The FSRMM is proud to have received the Swiss Biotech Success Story Award 2024!
More Information Follow on LinkedIn
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ENMC Workshop report
The lay report on the workshop "Seronegative MG: An update paradigm for diagnosis and management", held in The Netherlands on 9-11 February 2024, is now available in 8 languages on the ENMC website. The full report will be published in the next 6 months on Neuromuscular Disorders.
Workshop report and participants list
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Grant opportunity
The RYR-1 Foundation is Accepting Letters of Intent (LOIs) for the Individual Investigator Research Grant Awards.
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New papers
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A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
Benucci S, Ruiz A, Franchini M, Ruggiero L, Zoppi D, Sitsapesan R, Lindsay C, Pelczar P, Pietrangelo L, Protasi F, Treves S, Zorzato F.
J Gen Physiol. 2024 Apr 1;156(4):e202313486.
01 avril 2024
European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO-NMD).
Van Damme P, Al-Chalabi A, Andersen PM, Chiò A, Couratier P, De Carvalho M, Hardiman O, Kuźma-Kozakiewicz M, Ludolph A, McDermott CJ, Mora JS, Petri S, Probyn K, Reviers E, Salachas F, Silani V,...
30 mars 2024
A solid beta-sheet structure is formed at the surface of FUS droplets during aging.
Emmanouilidis L, Bartalucci E, Kan Y, Ijavi M, Pérez ME, Afanasyev P, Boehringer D, Zehnder J, Parekh SH, Bonn M, Michaels TCT, Wiegand T, Allain FH.
Nat Chem Biol. 2024 Mar 11.
12 mars 2024
Cervical and thoracic spinal cord gray matter atrophy is associated with disability in patients with amyotrophic lateral sclerosis.
Wendebourg MJ, Weigel M, Weidensteiner C, Sander L, Kesenheimer E, Naumann N, Haas T, Madoerin P, Braun N, Neuwirth C, Weber M, Jahn K, Kappos L, Granziera C, Schweikert K, Sinnreich M, Bieri O,...
11 mars 2024
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, et al.
Nat Commun. 2024 Feb 27;15(1):1758.
27 février 2024
A model of human neural networks reveals NPTX2 pathology in ALS and FTLD.
Hruska-Plochan M, Wiersma VI, Betz KM, Mallona I, Ronchi S, Maniecka Z, Hock EM, Tantardini E, Laferriere F, Sahadevan S, Hoop V, Delvendahl I, Pérez-Berlanga M, Gatta B, Panatta M, van der Bourg A,...
14 février 2024
Direct reprogramming of non-limb fibroblasts to cells with properties of limb progenitors.
Atsuta Y, Lee C, Rodrigues AR, Colle C, Tomizawa RR, Lujan EG, Tschopp P, Galan L, Zhu M, Gorham JM, Vannier JP, Seidman CE, Seidman JG, Ros MA, Pourquié O, Tabin CJ.
Dev Cell. 2024 Feb...
05 février 2024
Autoreactive T cells target peripheral nerves in Guillain-Barré syndrome.
Súkeníková L, Mallone A, Schreiner B, Ripellino P, Nilsson J, Stoffel M, Ulbrich SE, Sallusto F, Latorre D.
Nature. 2024 Jan 17. doi: 10.1038/s41586-023-06916-6.
17 janvier 2024
Native collagen VI delays muscle stem cell early differentiation.
Metti S, Ros FD, Toniato G, Cescon M, Bonaldo P.
J Cell Sci. 2024 Jan 15:jcs.261419.
15 janvier 2024
The ER stress sensor IRE1 interacts with STIM1 to promote store-operated calcium entry, T cell activation, and muscular differentiation.
Carreras-Sureda A, Zhang X, Laubry L, Brunetti J, Koenig S, Wang X, Castelbou C, Hetz C, Liu Y, Frieden M, Demaurex N.
Cell Rep. 2023 Dec 26;42(12):113540.
26 décembre 2023