| 1 | NPTX1, SCA50 |
| A Novel NPTX1 de novo Variant in a Late-Onset Ataxia Patient. | |
| Deppe J, Deininger N, Lingor P, Haack TB, Haslinger B, Deschauer M. | |
| Mov Disord. Mar 14. doi: 10.1002/mds.28985. Epub ahead of print. 2022 | |
| 2 | NPTX1, SCA50 |
| NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia | |
| Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G. | |
| Brain. Nov 11:awab407. doi: 10.1093/brain/awab407. Epub ahead of print. 2021 | |