Virginia Kimonis
University of California, Irvine
H-index: 61
North America-United States
Top articles of Virginia Kimonis
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Variable clinical and brain neuroradiological manifestations in four patients with beta mannosidosis | Molecular Genetics and Metabolism | Angela M Martin Rios Virginia Kimonis | 2024/2/1 |
Adjunct treatment with glycogen synthase (GYS1) antisense oligonucleotides with enzyme replacement therapy (ERT) reduces glycogen more effectively in the Pompe disease mouse model | Molecular Genetics and Metabolism | Angela Martin Lan Weiss Michele Carrer Alyaa Shmara Victoria Boock | 2024/4/1 |
Remote respiratory resistance exercise training improves respiratory function in individuals with VCP multisystem proteinopathy | Neuromuscular Disorders | Madeline Halseth Ryan Mahoney Joyce Hsiou Harrison N Jones Virginia Kimonis | 2024/1/1 |
Variable clinical and brain radiological manifestations in four patients with beta mannosidosis | Molecular Genetics and Metabolism | Angela Martin Virginia Kimonis Liliane Gibbs | 2024/4/1 |
Cross‐sectional study of patients with VCP multisystem proteinopathy 1 using dual‐energy x‐ray absorptiometry | Muscle & Nerve | Rod Carlo Agram Columbres Vu Luu Minh Nguyen Virginia Kimonis | 2024/3/29 |
Bone scan findings of Paget’s disease of bone in patients with VCP Multisystem Proteinopathy 1 | Scientific Reports | Rod Carlo Agram Columbres Sarosh Din Liliane Gibbs Virginia Kimonis | 2024/3/11 |
Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease | bioRxiv | Lan Weiss Michele Carrer Alyaa Shmara Cheng Cheng Hong Yin | 2024/2/22 |
Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy (vol 29, pg 3945, 2020) | Human molecular genetics | Lan Weiss Kwang-Mook Jung Angele Nalbandian Katrina Llewellyn Howard Yu | 2020/12/15 |
MRI based semi-quantitative scoring system analysis of thigh muscles in patients with VCP disease | Rod Carlo A Columbres J Yu Hon Saya Horiuchi Bryan Tang Yue Chin | 2023/10/17 | |
Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis | Science advances | Gerald Coulis Diego Jaime Christian Guerrero-Juarez Jenna M Kastenschmidt Philip K Farahat | 2023/7/7 |
Prevalence of frontotemporal dementia in females of 5 hispanic families with R159H VCP multisystem proteinopathy | Neurology: Genetics | Alyaa Shmara Liliane Gibbs Ryan Patrick Mahoney Kyle Hurth Vanessa S Goodwill | 2023/1/11 |
A rare case of Rodriguez syndrome caused by a SF3B4 gene deletion | J Clin Images Med Case Rep | A Chundu J Hsiou Y Nicolau R Edwards V Kimonis | 2023 |
Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy | Victoria Boock Bhaskar Roy Gerald Pfeffer Virginia Kimonis | 2023/10/1 | |
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy | Bhaskar Roy Allison Peck Teresinha Evangelista Gerald Pfeffer Leo Wang | 2023/5 | |
A novel syndrome associated with prenatal fentanyl exposure | Genetics in Medicine Open | Erin Wadman Erica Fernandes Candace Muss Nina Powell-Hamilton Monica H Wojcik | 2023/1/1 |
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1 | Genes | Rod Carlo Agram Columbres Yue Chin Sanjana Pratti Colin Quinn Luis F Gonzalez-Cuyar | 2023/3/8 |
Frameshift mutations in the heat shock protein B8 cause its aggregation and impair proteostasis in neuromyopathies | B Tedesco L Vendredy E Adriaenssens M Cozzi B Asselbergh | 2022/11/17 | |
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III … | Journal of medical genetics | Eric L Wallace Ozlem Goker-Alpan William R Wilcox Myrl Holida John Bernat | 2023/11/8 |
P005: Head-to-head trial of pegunigalsidase alfa vs agalsidase beta in Fabry disease: Phase 3 randomized, double-blind, BALANCE Study 2-year results | Genetics in Medicine Open | John Bernat Eric Wallace Ozlem Goker-Alpan William Wilcox Myrl Holida | 2023/1/1 |
Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1 (MSP1) | Rod Carlo Columbres Sarosh Din Liliane Gibbs Virginia Kimonis | 2023/8/24 |
Co-Authors
