Kalita S et al.
Annals of Indian Academy of Neurology, 2025
Legati A et al.
Current Neurology and Neuroscience Reports, 2023
Pauly MG et al.
Genes, 2023
Virdee M et al.
Journal of Child Neurology, 2019
Maffezzini C et al.
Molecular Genetics & Genomic Medicine, 2019
Vantroys E et al.
Orphanet Journal of Rare Diseases, 2018
Wortmann SB et al.
Human Mutation, 2017