Gorman E et al.
Frontiers in Genetics, 2025
Chong-Nguyen C et al.
Journal of Inherited Metabolic Disease, 2020
Rahman S et al.
Nature Reviews. Neurology, 2019
Tang S et al.
Journal of Medical Genetics, 2011
Gago MF et al.
Neuromuscular Disorders : Nmd, 2006