Index | PMID | Date | Reference |
---|---|---|---|
1 | 38755691 | 2024 | Sala, D., Marchet, S., Nanetti, L., Legati, A., Mariotti, C., Lamantea, E., Ghezzi, D., Catania, A., Lamperti, C. (2024) A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies Orphanet Journal of Rare Diseases . 19 (1): 200 . |