Citations for
1PRDX3, 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
2PRDX3, 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
3PRDX3, 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