Dysmorphology of inborn errors of metabolism

por Kimonis, Virginia
Publicado 2014

Clinical utility and dilemmas of SNP microarray testing

por Kimonis, Virginia
Publicado 2014

Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele

por Kirby, Alana E., Kimonis, Virginia, Kompoliti, Katie
Publicado 2021

Genetics of Obesity in Humans: A Clinical Review

por Mahmoud, Ranim, Kimonis, Virginia, Butler, Merlin G.
Publicado 2022

Clinical Trials in Prader–Willi Syndrome: A Review

por Mahmoud, Ranim, Kimonis, Virginia, Butler, Merlin G.
Publicado 2023

Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion

por Mahmoud, Ranim, Naidu, Ajanta, Risheg, Hiba, Kimonis, Virginia
Publicado 2017

Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica

por Maclean, Andrew E, Kimonis, Virginia E, Balk, Janneke
Publicado 2018

Regional Strain Pattern and Correlation with Cardiac Magnetic Resonance Imaging in Fabry Disease

por Wang, Stephani C., Tapia, Daisy, Kimonis, Virginia E., Lombardo, Dawn M.
Publicado 2021

A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome

por Kimonis, Virginia, Surampalli, Abhilasha, Wencel, Marie, Gold, June-Anne, Cowen, Neil M.
Publicado 2019

Rapamycin and Chloroquine: The In Vitro and In Vivo Effects of Autophagy-Modifying Drugs Show Promising Results in Valosin Containing Protein Multisystem Proteinopathy

por Nalbandian, Angèle, Llewellyn, Katrina J., Nguyen, Christopher, Yazdi, Puya G., Kimonis, Virginia E.
Publicado 2015

Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease

por Bonesteele, Grant, Gargus, J. Jay, Curtin, Emily, Tang, Mabel, Rosenbloom, Barry, Kimonis, Virginia
Publicado 2020

A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy

por Shmara, Alyaa, Perez-Rosendahl, Mari, Murphy, Kady, Kwon, Ashley, Smith, Charles, Kimonis, Virginia
Publicado 2022

Exercise Training Reverses Skeletal Muscle Atrophy in an Experimental Model of VCP Disease

por Nalbandian, Angèle, Nguyen, Christopher, Katheria, Veeral, Llewellyn, Katrina J., Badadani, Mallikarjun, Caiozzo, Vincent, Kimonis, Virginia E.
Publicado 2013

Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease

por Mahoney, Ryan, Lee, Grace K., Zepeda, Joaquin Ponce, Gabriel, Christopher, Hall, Kathy, Edwards, Rob, Kimonis, Virginia
Publicado 2021

Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis

por Pfeffer, Gerald, Lee, Grace, Pontifex, Carly S., Fanganiello, Roberto D., Peck, Allison, Weihl, Conrad C., Kimonis, Virginia
Publicado 2022

A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy

por Llewellyn, Katrina J., Walker, Naomi, Nguyen, Christopher, Tan, Baichang, BenMohamed, Lbachir, Kimonis, Virginia E., Nalbandian, Angèle
Publicado 2015

Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study

por Wanner, Christoph, Kimonis, Virginia, Politei, Juan, Warnock, David G., Üçeyler, Nurcan, Frey, Aline, Cornelisse, Peter, Hughes, Derralyn
Publicado 2022

Polycystic kidney disease complicates renal pathology in a family with Fabry disease

por Johar, Leepakshi, Lee, Grace, Martin-Rios, Angela, Hall, Kathy, Cheng, Cheng, Lombardo, Dawn, Pahl, Madeleine, Kimonis, Virginia
Publicado 2022

New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy

por Al-Tahan, Sejad, Weiss, Lan, Yu, Howard, Tang, Sha, Saporta, Mario, Vihola, Anna, Mozaffar, Tahseen, Udd, Bjarne, Kimonis, Virginia
Publicado 2019

Prevalence of cerebral small vessel disease in a Fabry disease cohort

por Tapia, Daisy, Floriolli, David, Han, Eric, Lee, Grace, Paganini-Hill, Annlia, Wang, Stephani, Zandihaghighi, Setarah, Kimonis, Virginia, Fisher, Mark
Publicado 2021