Monfrini et al. report 12 cases from 5 unrelated families carrying 4 rare KMT2B missense variants, identifying a common pattern that differentiates them from controls and early-onset KMT2B-related dystonic patients. @MonfriniE@AlessioDiFonzo1 https://t.co/fvMhH2Z4w5
We have discovered a human knock-out phenotype for Clever-1. @InFLAMES_Health See our preprint: Biallelic STAB1 pathogenic variants cause hereditary hyperferritinemia https://t.co/co1hy20n4i
Significantly increased burden of deleterious variants in LSD genes in PD patients. Moreover, our analyses evidenced that the two strongest modifiers of GBA penetrance are a second variation in GBA and variants in genes causing mucopolysaccharidoses.
https://t.co/0Zvt35hBkg