News
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,...
30 aprile 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. Neuromuscul Disord. 2021 Apr 7:S0960-8966(21)00071-7.
17 aprile 2021
Muscle Stem Cell Quiescence: Controlling Stemness by Staying Asleep.
Ancel S, Stuelsatz P, Feige JN. Trends Cell Biol. 2021 Mar 2:S0962-8924(21)00031-3.
15 aprile 2021
Urolithin A improves muscle function by inducing mitophagy in muscular dystrophy.
Luan P, D'Amico D, Andreux PA, Laurila PP, Wohlwend M, Li H, Imamura de Lima T, Place N, Rinsch C, Zanou N, Auwerx J. Sci Transl Med. 2021 Apr 7;13(588):eabb0319.
07 aprile 2021
Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD.
Schmitz A, Pinheiro Marques J, Oertig I, Maharjan N, Saxena S. Front Cell Neurosci. 2021 Feb 18;15:637548
01 aprile 2021
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.
Moisse M, Zwamborn RAJ, van Vugt J, van der Spek R, van Rheenen W, Kenna B, Van Eijk K, Kenna K, Corcia P, Couratier P, Vourc'h P, Hardiman O, McLaughin R, Gotkine M,...
25 marzo 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 Mar 2
15 marzo 2021
Early detection of evolving critical illness myopathy with muscle velocity recovery cycles.
Tankisi A, Pedersen TH, Bostock H, Z'Graggen WJ, Larsen LH, Meldgaard M, Elkmann T, Tankisi H. Clin Neurophysiol. 2021 Feb 20:S1388-2457(21)00050-X.
05 marzo 2021
Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?
Kourakis S, Timpani CA, Campelj DG, Hafner P, Gueven N, Fischer D, Rybalka E. Orphanet J Rare Dis. 2021 Mar 4;16(1):117.
04 marzo 2021
Genetic neuropathies presenting with CIDP-like features in childhood.
Fernandez-Garcia MA, Stettner GM, Kinali M, Clarke A, Fallon P, Knirsch U, Wraige E, Jungbluth H. Neuromuscul Disord. 2021 Feb;31(2):113-122.
28 febbraio 2021
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