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Die Fortschritte der Forschung sind die einzige Hoffnung der Patienten auf wirksame Therapien!
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Unterstützen Sie die Forschung an seltenen genetischen Muskelkrankheiten!
4th International Scientific Congress on SMA
Ghent, Belgium, 14-16 March 2024
The goal of the scientific congress is to bring together an international and multi-disciplinary group of scientists and health-care professionals.
Abstract submission until September 30th
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Imaging in Neuromuscular Disease Conference
Berlin, Germany 5-7 November 2023
The conference aims at promoting exchanges between radiologists, neurologists, biologists, physicists, engineers, and other scientists involved in neuromuscular imaging, particularly but not exclusively focusing on MR imaging and spectroscopy. The main topics selected for the 2023 edition are: emerging imaging approaches, other imaging modalities, dynamic imaging, and clinical research.
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20th IIM Meeting
Assisi, Italy, 12-15 October 2023
This event aims to create an event in which scientists, clinicians and patient representatives have the opportunity to listen to the latest discoveries in the field, share results and ideas, and initiate new collaborations. The meeting is open to all researchers from Italy and abroad.
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19th annual meeting of the Oligonucleotide Therapeutics Society
Barcelona, 22-25 October 2023 (hybrid)
The meeting serves as a continuum for dialogue and discussion among industry, academia and health authorities to educate and share progress on the basic research and therapeutic development of oligonucleotides, including antisense, siRNA, immunostimulatory and aptamer applications, RNA/DNA editing and mRNA therapeutics as well as basic RNA research.
Early bird until September 22nd
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New papers
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Loss of TDP-43 oligomerization or RNA binding elicits distinct aggregation patterns.
Pérez-Berlanga M, Wiersma VI, Zbinden A, De Vos L, Wagner U, Foglieni C, Mallona I, Betz KM, Cléry A, Weber J, Guo Z, Rigort R, de Rossi P, Manglunia R, Tantardini E, Sahadevan S, Stach O,...
04 September 2023
SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS.
Lone MA, Zeng S, Bourquin F, Wang M, Huang S, Lin Z, Tang B, Zhang R, Hornemann T.
Biochim Biophys Acta Mol Cell Biol Lipids. 2023 Sep;1868(9):159359.
01 September 2023
Transgene-free direct conversion of murine fibroblasts into functional muscle stem cells.
Qabrati X, Kim I, Ghosh A, Bundschuh N, Noé F, Palmer AS, Bar-Nur O. NPJ Regen
Med. 2023 Aug 8;8(1):43.
08 August 2023
Guideline "Motor neuron diseases" of the German Society of Neurology (Deutsche Gesellschaft für Neurologie).
Petri S, Grehl T, Grosskreutz J, Hecht M, Hermann A, Jesse S, Lingor P, Löscher W, Maier A, Schoser B, Weber M, Ludolph AC.
Neurol Res Pract. 2023 Jun 15;5(1):25.
15 Juni 2023
The mitochondrial calcium uniporter (MCU) activates mitochondrial respiration and enhances mobility by regulating mitochondrial redox state.
Weiser A, Hermant A, Bermont F, Sizzano F, Karaz S, Alvarez-Illera P, Santo-Domingo J, Sorrentino V, Feige JN, De Marchi U.
Redox Biol. 2023 Jun 4;64:102759.
04 Juni 2023
Inhibiting de novo ceramide synthesis restores mitochondrial and protein homeostasis in muscle aging.
Lima TI, Laurila PP, Wohlwend M, Morel JD, Goeminne LJE, Li H, Romani M, Li X, Oh CM, Park D, Rodríguez-López S, Ivanisevic J, Gallart-Ayala H, Crisol B, Delort F, Batonnet-Pichon S, Silveira LR,...
17 Mai 2023
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 April 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 April 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 März 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 März 2023