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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!
FSHD Symposium 2023
Luzerner Kantonsspital 31 May 2023 (in german and english)
Das Symposium richtet sich an Assistenzärztinnen und Assistenzärzte, Fachärztinnen und Fachärzte der Neurologie, Rheumatologie, Orthopädie, Pädiatrie, Neurogenetik sowie Fachpersonen der Physiotherapie.
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9th Rare Disease Summer school
Kartause Ittingen, 4-7 July 2023
The program includes lectures by national and international rare disease experts on topics ranging from disease mechanisms and disease models to improving diagnoses and developing novel therapies. Moreover, the ethical, social, and legal (ELSI) challenges associated with rare diseases will also be addressed.
Deadline for applications: 14th May 2023
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Annual SMA Research & Clinical Care Meeting
Orlando, Florida 28-30 June 2023
This meeting brings together researchers from academia, government, and biotech/pharmaceutical companies with multi-disciplinary healthcare providers who are diagnosing and caring for people with SMA
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FSHD International Research Congress
15-16 June 2023, Milan, Italy
With the recent advances in FSHD research and clinical advances, this conference has become catalytic in translating ideas into potential therapies.
Information
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Grant opportunity
For research focused on improving treatment, care, and support of the myotonic dystrophy patient and his/her family, as well as molecular biology and basic science.
Call now open, deadline September 15th
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Mentoring Programme
Do you see yourself as a future leader in NMD research? The just launched ENMC mid-career mentoring programme aims at helping the next generation of specialists and research leaders to develop their full potential and facilitate effective communication and collaboration with multiple stakeholders in the current NMD landscape.
Deadline for the first application round: 1 July 2023.
Read more
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New papers
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ConFERMing the role of talin in integrin activation and mechanosignaling.
Bachmann M, Su B, Rahikainen R, Hytönen VP, Wu J, Wehrle-Haller B. J Cell Sci. 2023 Apr 15;136(8):jcs260576.
15 avril 2023
Nerve pathology is prevented by linker proteins in mouse models for LAMA2-related muscular dystrophy.
Reinhard JR, Porrello E, Lin S, Pelczar P, Previtali SC, Rüegg MA. PNAS Nexus. 2023 Mar 15;2(4):pgad083.
01 avril 2023
Autophagy and neurodegeneration: Unraveling the role of C9ORF72 in the regulation of autophagy and its relationship to ALS-FTD pathology.
Diab R, Pilotto F, Saxena S. Front Cell Neurosci. 2023 Mar 16;17:1086895.
31 mars 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, et. al.
J Clin Invest. 2023 Mar 28:e165019.
28 mars 2023
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.
Eckhardt J, Ruiz A, Koenig S, Frieden M, Meier H, Schmidt A, Treves S, Zorzato F.
Elife. 2023 Mar 2;12:e83618.
02 mars 2023
Radiomics and machine learning applied to STIR sequence for prediction of quantitative parameters in facioscapulohumeral disease.
Colelli G, Barzaghi L, Paoletti M, Monforte M, Bergsland N, Manco G, Deligianni X, Santini F, Ricci E, Tasca G, Mira A, Figini S, Pichiecchio A.
Front Neurol. 2023 Feb 24;14:1105276.
24 février 2023
Antibodies Produced by CLL Phenotype B Cells in Patients With Myasthenia Gravis Are Not Directed Against Neuromuscular Endplates.
Ingelfinger F, Kramer M, Lutz M, Widmer CC, Piccoli L, Kreutmair S, Wertheimer T, Woodhall M, Waters P, Sallusto F, Lanzavecchia A, Mundt S, Becher B, Schreiner B.
Neurol Neuroimmunol Neuroinflamm....
08 février 2023
New tools to study the interaction between integrins and latent TGFβ1.
Bachmann M, Kessler J, Burri E, Wehrle-Haller B.
bioRxiv. 2023 Jan 26:2023.01.26.525682
26 janvier 2023
The molecular athlete: exercise physiology from mechanisms to medals.
Furrer R, Hawley JA, Handschin C.
Physiol Rev. 2023 Jan 5.
05 janvier 2023
Resistance exercise enhances long-term mTORC1 sensitivity to leucine.
D'Hulst G, Masschelein E, De Bock K.
Mol Metab. 2022 Dec;66:101615
22 décembre 2022