Kimonis, Virginia

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Watts, G. D. J., Wymer, J., Kovach, M. J., Mehta, S. G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M. P., & Kimonis, V. E. (2004) · Nature Genetics

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 1,391

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

Tresse, E., Salomons, F. A., Vesa, J., Bott, L. C., Kimonis, V., Yao, T.-P., Dantuma, N. P., & Taylor, J. P. (2010) · Autophagy

Autophagy in Disease and TherapyUbiquitin and proteasome pathways

Cited by 437

Mutant valosin‐containing protein causes a novel type of frontotemporal dementia

Schröder, R., Watts, G. D. J., Mehta, S. G., Evert, B. O., Broich, P., Fließbach, K., Pauls, K., Hans, V. H., Kimonis, V., & Thal, D. R. (2005) · Annals of Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 177

Pathological consequences of VCP mutations on human striated muscle

Hubbers, C. U., Clemen, C. S., Kesper, K., Boddrich, A., Hofmann, A., Kamarainen, O., Tolksdorf, K., Stumpf, M., Reichelt, J., Roth, U., et al. (2007) · Brain

Muscle Physiology and DisordersGenetic Neurodegenerative Diseases

Cited by 170

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations

Sahoo, T., Bacino, C. A., German, J. R., Shaw, C. A., Bird, L. M., Kimonis, V., Anselm, I., Waisbren, S., Beaudet, A. L., & Peters, S. U. (2007) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetic Syndromes and Imprinting

Cited by 152

Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis

Coulis, G., Jaime, D., Guerrero-Juarez, C., Kastenschmidt, J. M., Farahat, P. K., Nguyen, Q., Pervolarakis, N., McLinden, K., Thurlow, L., Movahedi, S., et al. (2023) · Science Advances

Muscle Physiology and DisordersCardiac Fibrosis and Remodeling

Cited by 150

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Justice, C. M., Yagnik, G., Kim, Y., Peter, I., Jabs, E. W., Erazo, M., Ye, X., Ainehsazan, E., Shi, L., Cunningham, M. L., et al. (2012) · Nature Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 140

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

Greenwood, J., Flodman, P., Osann, K., Boyadjiev, S. A., & Kimonis, V. (2014) · Genetics in Medicine

Craniofacial Disorders and TreatmentsPectus Deformity Diagnosis and Treatment

Cited by 113

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

Su, H., Fan, W., Coskun, P. E., Vesa, J., Gold, J.-A., Jiang, Y.-H., Potluri, P., Procaccio, V., Acab, A., Weiss, J. H., et al. (2011) · Neuroscience Letters

Genetic Syndromes and ImprintingMitochondrial Function and Pathology

Cited by 80

The Homozygote VCPR155H/R155H Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology

Nalbandian, A., Llewellyn, K. J., Kitazawa, M., Yin, H. Z., Badadani, M., Khanlou, N., Edwards, R., Nguyen, C., Mukherjee, J., Mozaffar, T., et al. (2012) · PLoS ONE

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 68

Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: a double-blind, placebo-controlled trial

Miller, J. L., Gevers, E., Bridges, N., Yanovski, J. A., Salehi, P., Obrynba, K. S., Felner, E. I., Bird, L. M., Shoemaker, A. H., Angulo, M., et al. (2023) · The Journal of Clinical Endocrinology & Metabolism

Genetic Syndromes and ImprintingRegulation of Appetite and Obesity

Cited by 55

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

El-Hattab, A. W., Schaaf, C. P., Fang, P., Roeder, E., Kimonis, V. E., Church, J. A., Patel, A., & Cheung, S. W. (2015) · BMC Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 53

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

Nalbandian, A., Nguyen, C., Katheria, V., Llewellyn, K. J., Badadani, M., Caiozzo, V., & Kimonis, V. E. (2013) · PLoS ONE

Muscle Physiology and DisordersAmyotrophic Lateral Sclerosis Research

Cited by 30