Weihl C - Search Results

1

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.

Korb M, Peck A, Alfano LN, Berger KI, James MK, Ghoshal N, Healzer E, Henchcliffe C, Khan S, Mammen PPA, Patel S, Pfeffer G, Ralston SH, Roy B, Seeley WW, Swenson A, Mozaffar T, Weihl C, Kimonis V; VCP Standards of Care Working Group. Korb M, et al. Among authors: weihl c. Orphanet J Rare Dis. 2022 Jan 29;17(1):23. doi: 10.1186/s13023-022-02172-5. Orphanet J Rare Dis. 2022. PMID: 35093159 Free PMC article. Review.

2

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE. Watts GD, et al. Among authors: weihl cc. Clin Genet. 2007 Nov;72(5):420-6. doi: 10.1111/j.1399-0004.2007.00887.x. Clin Genet. 2007. PMID: 17935506

3

Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease.

Ju JS, Miller SE, Hanson PI, Weihl CC. Ju JS, et al. Among authors: weihl cc. J Biol Chem. 2008 Oct 31;283(44):30289-99. doi: 10.1074/jbc.M805517200. Epub 2008 Aug 20. J Biol Chem. 2008. PMID: 18715868 Free PMC article.

4

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia.

Weihl CC, Temiz P, Miller SE, Watts G, Smith C, Forman M, Hanson PI, Kimonis V, Pestronk A. Weihl CC, et al. J Neurol Neurosurg Psychiatry. 2008 Oct;79(10):1186-9. doi: 10.1136/jnnp.2007.131334. J Neurol Neurosurg Psychiatry. 2008. PMID: 18796596 Free PMC article.

5

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

Weihl CC, Pestronk A, Kimonis VE. Weihl CC, et al. Neuromuscul Disord. 2009 May;19(5):308-15. doi: 10.1016/j.nmd.2009.01.009. Epub 2009 Apr 19. Neuromuscul Disord. 2009. PMID: 19380227 Free PMC article. Review.

6

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease.

Ju JS, Fuentealba RA, Miller SE, Jackson E, Piwnica-Worms D, Baloh RH, Weihl CC. Ju JS, et al. Among authors: weihl cc. J Cell Biol. 2009 Dec 14;187(6):875-88. doi: 10.1083/jcb.200908115. J Cell Biol. 2009. PMID: 20008565 Free PMC article.

7

Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy.

Ju JS, Weihl CC. Ju JS, et al. Among authors: weihl cc. Hum Mol Genet. 2010 Apr 15;19(R1):R38-45. doi: 10.1093/hmg/ddq157. Epub 2010 Apr 21. Hum Mol Genet. 2010. PMID: 20410287 Free PMC article. Review.

8

Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis.

Weihl CC. Weihl CC. Curr Alzheimer Res. 2011 May;8(3):252-60. doi: 10.2174/156720511795563773. Curr Alzheimer Res. 2011. PMID: 21222596 Free PMC article. Review.

9

mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy.

Ching JK, Elizabeth SV, Ju JS, Lusk C, Pittman SK, Weihl CC. Ching JK, et al. Among authors: weihl cc. Hum Mol Genet. 2013 Mar 15;22(6):1167-79. doi: 10.1093/hmg/dds524. Epub 2012 Dec 18. Hum Mol Genet. 2013. PMID: 23250913 Free PMC article.

10

Rapamycin-induced autophagy aggravates pathology and weakness in a mouse model of VCP-associated myopathy.

Ching JK, Weihl CC. Ching JK, et al. Among authors: weihl cc. Autophagy. 2013 May;9(5):799-800. doi: 10.4161/auto.23958. Epub 2013 Feb 25. Autophagy. 2013. PMID: 23439279 Free PMC article.

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