Pietro Spitali, Irina Zaharieva, Stefan Bohringer, Monika Hiller, Amina Chaouch, Andreas Roos, Chiara Scotton, Mireille Claustres, Luca Bello, Craig M. McDonald, Eric P. Hoffman, CINRG Investigators, Zaida Koeks, H. Eka Suchiman, Sebahattin Cirak, Mariacristina Scoto, Mojgan Reza, Peter A. C. ‘t Hoen, Erik H. Niks, Sylvie Tuffery-Giraud, Hanns Lochmüller, Alessandra Ferlini, Francesco Muntoni, Annemieke Aartsma-Rus
Eur J Hum Genet. 2020 Jun; 28(6): 815–825. Published online 2020 Jan 2. doi: 10.1038/s41431-019-0563-6