Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossÉlodie M. Richard, Michele Pinelli, Alex M. Pagnozzi et al.|The American Journal of Human Genetics|2021Cited by 42
The Wolfram-like variant WFS1 <sup>E864K</sup> destabilizes MAM and compromises autophagy and mitophagy in human and miceSimone Patergnani, Élodie M. Richard|Autophagy|2024Cited by 18
The Wolfram-like variant WFS1 <sup>E864K</sup> destabilizes MAM and compromises autophagy and mitophagy in human and miceSimone Patergnani, Élodie M. Richard|bioRxiv (Cold Spring Harbor Laboratory)|2023Cited by 1