Clinical and Preclinical Neuroimaging Changes in Spinocerebellar Ataxia Type 12: A Study of Three Chinese Pedigrees
Sign Up to like & getrecommendations! Published in 2022 at "European Neurology"
DOI: 10.1159/000525272
Abstract: Background: Spinocerebellar ataxia type 12 (SCA12) is a rare SCA subtype with unclear clinical and imaging features. Also, the radiological changes in prodromal and early stages remain unknown. Methods: Ten symptomatic and two presymptomatic cases… read more here.
Keywords: ataxia type; three chinese; spinocerebellar ataxia; chinese pedigrees ... See more keywords
Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.955079
Abstract: Objective Haploinsufficiency of A20 (HA20) is a newly described rare autoinflammatory disease caused by TNFAIP3 gene mutations. HA20 has seldom been documented in the Chinese population. Herein, we report eight patients with HA20 from three… read more here.
Keywords: a547t 1906; three chinese; ha20; chinese pedigrees ... See more keywords