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I progressi della ricerca sono l'unica speranza dei pazienti!
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Sostenete la ricerca sulle malattie genetiche muscolari!
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.
Early bird until November 30th
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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.
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Myology 2024
22-25 April 2024
This conference offers a comprehensive overview of the latest breakthroughs in muscle science, with a particular focus on disease-modifying therapies and medical advancements for neuromuscular diseases .
Abstract deadlione extended to November 30th
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New papers
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Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders.
Gomez Limia C, Baird M, Schwartz M, Saxena S, Meyer K, Wein N.
J Pers Med. 2022 Nov 30;12(12):1979.
16 novembre 2023
Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.
Vidal J, Fernandez EA, Wohlwend M, Laurila PP, Lopez-Mejia A, Ochala J, Lobrinus AJ, Kayser B, Lopez-Mejia IC, Place N, Zanou N.
J Cachexia Sarcopenia Muscle. 2023 Nov 15
15 novembre 2023
RNA recognition by Npl3p reveals U2 snRNA-binding compatible with a chaperone role during splicing.
Moursy A, Cléry A, Gerhardy S, Betz KM, Rao S, Mazur J, Campagne S, Beusch I, Duszczyk MM, Robinson MD, Panse VG, Allain FH.
Nat Commun. 2023 Nov 7;14(1):7166.
07 novembre 2023
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Henzi BC, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Putananickal N, Stimpson G; North Star Consortium; Amthor H, Childs AM, Deconinck N, de Groot I, Horrocks I, Houwen-van Opstal S, Laugel V,...
25 ottobre 2023
Molecular control of endurance training adaptation in male mouse skeletal muscle.
Furrer R, Heim B, Schmid S, Dilbaz S, Adak V, Nordström KJV, Ritz D, Steurer SA, Walter J, Handschin C.
Nat Metab. 2023 Sep 11.
23 ottobre 2023
In vitro-generated human muscle reserve cells are heterogeneous for Pax7 with distinct molecular states and metabolic profiles.
Bouche A, Borner B, Richard C, Grand Y, Hannouche D, Laumonier T.
Stem Cell Res Ther. 2023 Sep 8;14(1):243
16 ottobre 2023
Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
Cocchiararo I, Cattaneo O, Rajendran J, Chabry F, Cornut M, Soldati H, Bigot A, Mamchaoui K, Gibertini S, Bouche A, Ham DJ, Laumonier T, Prola A, Castets P.
Hum Mol Genet. 2023 Sep 26:ddad164.
11 ottobre 2023
Fast, multiplexable and efficient somatic gene deletions in adult mouse skeletal muscle fibers using AAV-CRISPR/Cas9.
Thürkauf M, Lin S, Oliveri F, Grimm D, Platt RJ, Rüegg MA. Nat Commun. 2023 Sep 30;14(1):6116.
30 settembre 2023
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 settembre 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 settembre 2023