Virginia E. Kimonis

This study examines the association between genetic subtypes and growth hormone treatment with behavioral disorders in Prader-Willi syndrome patients, finding no significant differences in ASD prevalence across genetic groups or treatment.

This study characterizes a HSPB8 knock-in mouse model of MFM13 and evaluates trehalose as a potential autophagy modulating therapy for HSPB8-related myopathy.

This study identifies ZDHHC17 as a key enzyme linking S-acylation to neurodegenerative diseases by modulating protein localization and toxicity.

This study evaluates the impact of geneticist involvement on genetic testing uptake, diagnostic yield, and patient education in perinatal demise cases.

The paper expands the clinical, biochemical, and brain imaging phenotype spectrum of β-mannosidosis by analyzing 44 patients and describing new features and genetic variants.

This study shows that antisense oligonucleotides targeting VCP reduce disease pathology and improve muscle function in cell and mouse models of multisystem proteinopathy.

This study uses the CoRDS registry to track quality of life in VCP disease patients, finding significant declines in mobility and function over time.

This study shows that ASO-mediated Gys1 knockdown in a mouse model of Pompe disease reduces glycogen accumulation and improves motor function, both alone and in combination with ERT.

The paper reports a novel HSPB8 mutation causing multisystem proteinopathy with inclusion body myopathy and cardiomyopathy, highlighting sex differences in disease severity and onset.

This study evaluates sleep disturbances in children with Rett, Angelman, and Prader-Willi syndromes compared to typically developing controls, identifying common sleep issues and their associations.