Edoardo Monfrini

Neurologist - #Neurogenetics - Genetics of #MovementDisorders

[Edoardo Monfrini @MonfriniE]

A novel form of inherited hyperferritinemia caused by biallelic pathogenic variants of STAB1 (Stabilin 1) https://t.co/vcfpeN9aoB

[Francesco Cavallieri @CavallieriMd]

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
https://t.co/zFpLhTJaFu

[@BrainComms @braincomms]

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

[Hollmén lab @maijahollmen]

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

[Edoardo Monfrini @MonfriniE]

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

[Edoardo Monfrini @MonfriniE]

VPS13C-associated Parkinson's disease: Two novel cases and review of t... https://t.co/OzeA3uwHQq

[Edoardo Monfrini @MonfriniE]

Here is our latest work! It is a useful, practical and comprehensive review on early-onset parkinsonism (open access).

https://t.co/Qq4WK43NIs

[Edoardo Monfrini @MonfriniE]

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia https://t.co/M6lXMs3CeD #movementdisorders #dystonia #genetics #neurogenetics

[Edoardo Monfrini @MonfriniE]

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia https://t.co/tLWhSlFO1f #dystonia #genetics #movementdisorders #neurogenetics