1 | PRDX3, SCAR32
|
| Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3
|
| Martínez-Rubio D, Rodríguez-Prieto Á, Sancho P, Navarro-González C, Gorría-Redondo N, Miquel-Leal J, Marco-Marín C, Jenkins A, Soriano-Navarro M, Hernández A, Pérez-Dueńas B, Fazzari P, Aguilera-Albesa S, Espinós C.
|
| Hum Mol Genet. Nov 10;31(22):3897-3913. doi: 10.1093/hmg/ddac146. 2022
|
2 | PRDX3, SCAR32
|
| A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.
|
| Rafeeq MM, Umair M, Bilal M, Habib AH, Waqas A, Sain ZM, Alam MZ, Ali RH.
|
| Neurogenetics. Oct 3. doi: 10.1007/s10048-022-00701-9. Online ahead of print 2022
|
3 | PRDX3, SCAR32
|
| Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia
|
| Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Traschütz A, Schöls L, Coarelli G, Durr A, Anheim M, Tranchant C, van de Warrenburg B, Guissart C, Koenig M, Howell J, Moraes CT, Schenck A, Stevanin G, Züchner S, Synofzik M; PREPARE network
|
| Brain. Jun 22;144(5):1467-1481. doi: 10.1093/brain/awab071. 2021
|