Edoardo Monfrini

A novel form of inherited hyperferritinemia caused by biallelic pathogenic variants of STAB1 (Stabilin 1) sciencedirect.com/science/articl…

Recent Advances in the #Treatment of #Genetic Forms of #Parkinson’s Disease: Hype or Hope? Out now our latest work in @Cells_MDPI. @Ausl_RE @PhDSchoolCEM @GINeuroGrenoble @MlzZedde @MoroElena4 @MonfriniE #IRCCS_RE #GBA #LRRK2 #SNCA #PRKN #DJ1 #PINK1 mdpi.com/2073-4409/12/5…

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 bit.ly/3uMYxC2

We have discovered a human knock-out phenotype for Clever-1. @InFLAMES_Health See our preprint: Biallelic STAB1 pathogenic variants cause hereditary hyperferritinemia medrxiv.org/content/10.110…

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. …mentdisorders.onlinelibrary.wiley.com/doi/full/10.10…

VPS13C-associated Parkinson's disease: Two novel cases and review of t... sciencedirect.com/science/articl…

Here is our latest work! It is a useful, practical and comprehensive review on early-onset parkinsonism (open access). content.iospress.com/articles/journ…

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia academic.oup.com/brain/advance-… #movementdisorders #dystonia #genetics #neurogenetics

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia onlinelibrary.wiley.com/doi/10.1002/an… #dystonia #genetics #movementdisorders #neurogenetics