Kimonis VE - Search Results

1

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

Nalbandian A, Donkervoort S, Dec E, Badadani M, Katheria V, Rana P, Nguyen C, Mukherjee J, Caiozzo V, Martin B, Watts GD, Vesa J, Smith C, Kimonis VE. Nalbandian A, et al. Among authors: kimonis ve. J Mol Neurosci. 2011 Nov;45(3):522-31. doi: 10.1007/s12031-011-9627-y. Epub 2011 Sep 3. J Mol Neurosci. 2011. PMID: 21892620 Review.

2

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.

Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE. Kovach MJ, et al. Among authors: kimonis ve. Mol Genet Metab. 2001 Dec;74(4):458-75. doi: 10.1006/mgme.2001.3256. Mol Genet Metab. 2001. PMID: 11749051 Free PMC article.

3

Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes.

Watts GD, Thorne M, Kovach MJ, Pestronk A, Kimonis VE. Watts GD, et al. Among authors: kimonis ve. Neuromuscul Disord. 2003 Sep;13(7-8):559-67. doi: 10.1016/s0960-8966(03)00070-1. Neuromuscul Disord. 2003. PMID: 12921793

4

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

Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. Watts GD, et al. Among authors: kimonis ve. Nat Genet. 2004 Apr;36(4):377-81. doi: 10.1038/ng1332. Epub 2004 Mar 21. Nat Genet. 2004. PMID: 15034582 Free article.

5

Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.

Lucas GJ, Mehta SG, Hocking LJ, Stewart TL, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Watts GD, Ralston SH, Kimonis VE. Lucas GJ, et al. Among authors: kimonis ve. Bone. 2006 Feb;38(2):280-5. doi: 10.1016/j.bone.2005.07.014. Epub 2005 Sep 30. Bone. 2006. PMID: 16199218

6

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.

Watts GD, Mehta SG, Zhao C, Ramdeen S, Hamilton SJ, Novack DV, Mumm S, Whyte MP, Mc Gillivray B, Kimonis VE. Watts GD, et al. Among authors: kimonis ve. Hum Genet. 2005 Dec;118(3-4):508-14. doi: 10.1007/s00439-005-0075-z. Epub 2005 Oct 22. Hum Genet. 2005. PMID: 16244874

7

Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.

Kimonis VE, Watts GD. Kimonis VE, et al. Alzheimer Dis Assoc Disord. 2005 Oct-Dec;19 Suppl 1:S44-7. doi: 10.1097/01.wad.0000183081.76820.5a. Alzheimer Dis Assoc Disord. 2005. PMID: 16317258

8

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy.

Mehta SG, Watts GD, McGillivray B, Mumm S, Hamilton SJ, Ramdeen S, Novack D, Briggs C, Whyte MP, Kimonis VE. Mehta SG, et al. Among authors: kimonis ve. Am J Med Genet A. 2006 Feb 15;140(4):322-30. doi: 10.1002/ajmg.a.31008. Am J Med Genet A. 2006. PMID: 16419137

9

Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations.

Forman MS, Mackenzie IR, Cairns NJ, Swanson E, Boyer PJ, Drachman DA, Jhaveri BS, Karlawish JH, Pestronk A, Smith TW, Tu PH, Watts GD, Markesbery WR, Smith CD, Kimonis VE. Forman MS, et al. Among authors: kimonis ve. J Neuropathol Exp Neurol. 2006 Jun;65(6):571-81. doi: 10.1097/00005072-200606000-00005. J Neuropathol Exp Neurol. 2006. PMID: 16783167

10

APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD).

Mehta SG, Watts GD, Adamson JL, Hutton M, Umberger G, Xiong S, Ramdeen S, Lovell MA, Kimonis VE, Smith CD. Mehta SG, et al. Among authors: kimonis ve. Genet Med. 2007 Jan;9(1):9-13. doi: 10.1097/gim.0b013e31802d830d. Genet Med. 2007. PMID: 17224685 Free article.

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