News

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 luglio 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 luglio 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 luglio 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 giugno 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 giugno 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 giugno 2021


Functional Characterization of Endogenously Expressed Human RYR1 Variants.

Treves S, Girard T, Zorzato F. J Vis Exp. 2021 Jun 9;(172).

09 giugno 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 giugno 2021


Is myopathy part of long-Covid?

Rodriguez B, Nansoz S, Cameron DR, Z'Graggen WJ. Clin Neurophysiol. 2021 Jun;132(6):1241-1242.

31 maggio 2021