R01 AR050236/AR/NIAMS NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2006	1
2007	2
2008	1
2009	2
2010	2
2011	1
2012	5
2013	3
2014	3
2015	4
2018	2
2021	2
2022	3
2024	1

1

Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1.

Columbres RCA, Din S, Gibbs L, Kimonis V. Columbres RCA, et al. Sci Rep. 2024 Mar 11;14(1):5917. doi: 10.1038/s41598-024-54526-7. Sci Rep. 2024. PMID: 38467645 Free PMC article.

2

A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy.

Shmara A, Perez-Rosendahl M, Murphy K, Kwon A, Smith C, Kimonis V. Shmara A, et al. Orphanet J Rare Dis. 2022 Jul 15;17(1):272. doi: 10.1186/s13023-022-02403-9. Orphanet J Rare Dis. 2022. PMID: 35841038 Free PMC article.

3

Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells.

Ferrari V, Cristofani R, Cicardi ME, Tedesco B, Crippa V, Chierichetti M, Casarotto E, Cozzi M, Mina F, Galbiati M, Piccolella M, Carra S, Vaccari T, Nalbandian A, Kimonis V, Fortuna TR, Pandey UB, Gagliani MC, Cortese K, Rusmini P, Poletti A. Ferrari V, et al. Neuropathol Appl Neurobiol. 2022 Aug;48(5):e12818. doi: 10.1111/nan.12818. Epub 2022 May 15. Neuropathol Appl Neurobiol. 2022. PMID: 35501124 Free PMC article.

4

Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants.

Choy N, Wang S, Abbona P, Leffler D, Kimonis V. Choy N, et al. Eur J Med Genet. 2022 Jun;65(6):104480. doi: 10.1016/j.ejmg.2022.104480. Epub 2022 Mar 16. Eur J Med Genet. 2022. PMID: 35306227

5

Characteristics of VCP mutation-associated cardiomyopathy.

Wang SC, Smith CD, Lombardo DM, Kimonis V. Wang SC, et al. Neuromuscul Disord. 2021 Aug;31(8):701-705. doi: 10.1016/j.nmd.2021.06.005. Epub 2021 Jun 12. Neuromuscul Disord. 2021. PMID: 34244020

6

Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy.

Weiss L, Jung KM, Nalbandian A, Llewellyn K, Yu H, Ta L, Chang I, Migliore M, Squire E, Ahmed F, Piomelli D, Kimonis V. Weiss L, et al. Hum Mol Genet. 2021 Feb 25;29(24):3945-3953. doi: 10.1093/hmg/ddaa248. Hum Mol Genet. 2021. PMID: 33410456 Free PMC article.

7

A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.

Plewa J, Surampalli A, Wencel M, Milad M, Donkervoort S, Caiozzo VJ, Goyal N, Mozaffar T, Kimonis V. Plewa J, et al. Neuromuscul Disord. 2018 Sep;28(9):778-786. doi: 10.1016/j.nmd.2018.06.007. Epub 2018 Jun 27. Neuromuscul Disord. 2018. PMID: 30097247 Free PMC article.

8

Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.

Al-Obeidi E, Al-Tahan S, Surampalli A, Goyal N, Wang AK, Hermann A, Omizo M, Smith C, Mozaffar T, Kimonis V. Al-Obeidi E, et al. Clin Genet. 2018 Jan;93(1):119-125. doi: 10.1111/cge.13095. Clin Genet. 2018. PMID: 28692196 Free PMC article.

9

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.

Surampalli A, Khare M, Kubrussi G, Wencel M, Tanaja J, Donkervoort S, Osann K, Simon M, Wallace D, Smith C, M McInerney-Leo A, Kimonis V. Surampalli A, et al. J Genet Couns. 2015 Oct;24(5):842-50. doi: 10.1007/s10897-015-9819-7. Epub 2015 Feb 26. J Genet Couns. 2015. PMID: 25716352 Free PMC article.

10

A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation.

Surampalli A, Gold BT, Smith C, Castellani RJ, Khare M, Yu H, Nguyen C, Lan M, Wencel M, Wigal S, Caiozzo V, Kimonis V. Surampalli A, et al. Neuromuscul Disord. 2015 Feb;25(2):177-83. doi: 10.1016/j.nmd.2014.10.003. Epub 2014 Oct 22. Neuromuscul Disord. 2015. PMID: 25582679 Free PMC article.

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