Associated Papers
Charlevoix-Saguenay spastic ataxia: a novel mutation in the SACS gene.
Li L et al.
Acta Neurologica Belgica, 2025
Diagnosis of hereditary ataxias: a real-world single center experience.
Meli A et al.
Journal of Neurology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Ferreira T et al.
Journal of Neurology, 2024
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