Actualités
Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies.
Djeddi S, Reiss D, Menuet A, Freismuth S, de Carvalho Neves J, Djerroud S, Massana-Muñoz X, Sosson AS, Kretz C, Raffelsberger W, Keime C, Dorchies OM, Thompson J,...
04 août 2021
PGC-1α regulates myonuclear accretion after moderate endurance training.
Battey E, Furrer R, Ross J, Handschin C, Ochala J, Stroud MJ. J Cell Physiol. 2021 Jul 28. doi: 10.1002/jcp.30539. Online ahead of print.
02 août 2021
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
Darras BT, Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl...
29 juillet 2021
An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions. Clark AJ, Kugathasan U, Baskozos G, Priestman DA, Fugger N, Lone MA, Othman A, Chu KH, Blesneac I, Wilson E
Clark AJ, Kugathasan U, Baskozos G, Priestman DA, Fugger N, Lone MA, Othman A, Chu KH, Blesneac I, Wilson ER, Laurà M, Kalmar B, Greensmith L, Hornemann T, Platt FM,...
21 juillet 2021
Chronic inflammatory demyelinating polyneuropathy with hypertrophic nerves.
Ripellino P, Ventura E, Querol L, Gobbi C. J Peripher Nerv Syst. 2021 Jun;26(2):227-230.
01 juillet 2021
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go. Dangouloff T, Vrščaj E, Servais L, Osredkar D; SMA NBS World Study Group.
Dangouloff T, Vrščaj E, Servais L, Osredkar D; SMA NBS World Study Group. Neuromuscul Disord. 2021 Jun;31(6):574-582.
29 juin 2021
An in vitro reconstituted U1 snRNP allows the study of the disordered regions of the particle and the interactions with proteins and ligands.
Campagne S, de Vries T, Malard F, Afanasyev P, Dorn G, Dedic E, Kohlbrecher J, Boehringer D, Cléry A, Allain FH. Nucleic Acids Res. 2021 Jun 21;49(11):e63.
21 juin 2021
Transcriptomic, proteomic and phosphoproteomic underpinnings of daily exercise performance and Zeitgeber activity of training in mouse muscle.
Maier G, Delezie J, Westermark PO, Santos G, Ritz D, Handschin C. J Physiol. 2021 Jun 18
18 juin 2021
Functional Characterization of Endogenously Expressed Human RYR1 Variants.
Treves S, Girard T, Zorzato F. J Vis Exp. 2021 Jun 9;(172).
09 juin 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel, P., Donkervoort, S., Lone, M.A. et al. Nat Med (2021). https://doi.org/10.1038/s41591-021-01346-1
01 juin 2021
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