Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

Por Weihl, Conrad C., Pestronk, Alan, Kimonis, Virginia E.
Publicado em 2009

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 no Hum Mol Genet (2018)

Targeted Excision of VCP R155H Mutation by Cre-LoxP Technology as a Promising Therapeutic Strategy for Valosin-Containing Protein Disease

Por Nalbandian, Angèle, Llewellyn, Katrina J., Nguyen, Christopher, Monuki, Edward S., Kimonis, Virginia E.
Publicado no Hum Gene Ther Methods (2015)

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 no PLoS One (2015)

Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype

Por Parker, John, Mozaffar, Tahseen, Messmore, Ashlynn, Deignan, Joshua L., Kimonis, Virginia E, Ringman, John M.
Publicado no Neurosci Lett (2019)

NR2F1 Deletion in a Patient with a de novo Paracentric Inversion, inv(5)(q15q33.2), and Syndromic Deafness

Por Brown, Kerry K., Alkuraya, Fowzan S., Matos, Michael, Robertson, Richard L., Kimonis, Virginia E., Morton, Cynthia C.
Publicado em 2009

Mutation in PQBP1 is associated with Periventricular Heterotopia

Por Sheen, Volney L., Torres, Alcy R., Du, Xiang, Barry, Brenda, Walsh, Christopher A., Kimonis, Virginia E.
Publicado em 2010

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 em 2013

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 no PLoS One (2015)

Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts

Por Vesa, Jouni, Su, Hailing, Watts, Giles D., Krause, Sabine, Walter, Maggie C., Wallace, Douglas C., Kimonis, Virginia E.
Publicado em 2009

Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease

Por Llewellyn, Katrina J., Nalbandian, Angèle, Jung, Kwang-Mook, Nguyen, Christopher, Avanesian, Agnesa, Mozaffar, Tahseen, Piomelli, Daniele, Kimonis, Virginia E.
Publicado em 2014

Global Gene Expression Profiling in R155H Knock‐In Murine Model of VCP Disease

Por Nalbandian, Angèle, Ghimbovschi, Svetlana, Wang, Zuyi, Knoblach, Susan, Llewellyn, Katrina J., Vesa, Jouni, Hoffman, Eric P., Kimonis, Virginia E.
Publicado no Clin Transl Sci (2014)

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification and Identification of Deletion Genetic Subtypes in Prader-Willi Syndrome

Por Henkhaus, Rebecca S., Kim, Soo-Jeong, Kimonis, Virginia E., Gold, June-Anne, Dykens, Elisabeth M., Driscoll, Daniel J., Butler, Merlin G.
Publicado em 2012

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

Por Kimonis, Virginia E., Kovach, Margaret J., Waggoner, Brook, Leal, Suzanne, Salam, Ambar, Rimer, Lisa, Davis, Katherine, Khardori, Romesh, Gelber, David
Publicado no Genet Med (2000)

Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome

Por Montes, Andrea S., Osann, Kathryn E., Gold, June Anne, Tamura, Roy N., Driscoll, Daniel J., Butler, Merlin G., Kimonis, Virginia E.
Publicado no Genes (Basel) (2020)

Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery

Por Llewellyn, Katrina J., Nalbandian, Angèle, Weiss, Lan N., Chang, Isabela, Yu, Howard, Khatib, Bibo, Tan, Baichang, Scarfone, Vanessa, Kimonis, Virginia E.
Publicado no PLoS One (2017)

Contributing Factors of Mortality in Prader-Willi Syndrome

Por Proffitt, Jennifer, Osann, Kathryn, McManus, Barbara, Kimonis, Virginia E., Heinemann, Janalee, Butler, Merlin G., Stevenson, David A., Gold, June-Anne
Publicado no Am J Med Genet A (2018)

Global Gene Profiling of VCP‐associated Inclusion Body Myopathy

Por Nalbandian, Angèle, Ghimbovschi, Svetlana, Radom‐Aizik, Shlomit, Dec, Eric, Vesa, Jouni, Martin, Barbara, Knoblach, Susan, Smith, Charles, Hoffman, Eric, Kimonis, Virginia E.
Publicado em 2012

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

Por El-Hattab, Ayman W, Schaaf, Christian P, Fang, Ping, Roeder, Elizabeth, Kimonis, Virginia E, Church, Joseph A, Patel, Ankita, Cheung, Sau Wai
Publicado no BMC Med Genet (2015)

Activation of the NLRP3 Inflammasome is Associated with Valosin Containing Protein Myopathy

Por Nalbandian, Angèle, Khan, Arif A., Srivastava, Ruchi, Llewellyn, Katrina J., Tan, Baichang, Shukr, Nora, Fazli, Yasmin, Kimonis, Virginia E., BenMohamed, Lbachir
Publicado no Inflammation (2017)