Virginia E. Kimonis - Publications

Characterization of the frameshift c.515dupC knock-in mouse model of HSPB8-associated myopathy (MFM13) and evaluation of Trehalose as autophagy-modulating therapy.

Journal: bioRxiv : the preprint server for biology

Published: August 20, 2026

Phenotype variability in six new patients with beta-mannosidosis.

Journal: Molecular genetics and metabolism

Published: May 11, 2026

Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders.

Journal: Molecular genetics and metabolism

Published: February 06, 2026

Clinical studies in 82 individuals with valosin-containing protein (VCP) associated multisystem proteinopathy and literature review.

Journal: Neuromuscular disorders : NMD

Published: January 20, 2026

Influence of Molecular Genetic Classes on Behavior in Prader-Willi Syndrome.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: December 16, 2025

Diazoxide Choline Extended-Release Tablets in Prader-Willi Syndrome: A Randomized, Double-Blind, Withdrawal Period Study.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 15, 2025

Diazoxide Choline Extended-release Tablets in Prader-Willi Syndrome: A Randomized, Double-blind, Withdrawal Period Study.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 15, 2025

A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.

Journal: Molecular genetics & genomic medicine

Published: August 23, 2025

Cardiomyopathy in valosin-containing protein multisystem proteinopathy: Evaluation, diagnosis, and management.

Journal: American heart journal plus : cardiology research and practice

Published: July 29, 2025

Antisense oligonucleotides targeting valosin-containing protein ameliorate muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathy.

Journal: Clinical and translational medicine

Published: July 27, 2025

Corrigendum to "In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics" [Mitochondrion 22 (2015) 1-8].

Journal: Mitochondrion

Published: May 08, 2025

Expanding the Phenotype Spectrum of β-Mannosidosis.

Journal: Neurology. Genetics

Published: February 18, 2025