Kimonis VE - Search Results

1

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

2

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE. Kovach MJ, et al. Among authors: kimonis ve. Am J Hum Genet. 1999 Jun;64(6):1580-93. doi: 10.1086/302420. Am J Hum Genet. 1999. PMID: 10330345 Free PMC article.

3

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

Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Rimer L, Davis K, Khardori R, Gelber D. Kimonis VE, et al. Genet Med. 2000 Jul-Aug;2(4):232-41. doi: 10.1097/00125817-200007000-00006. Genet Med. 2000. PMID: 11252708 Free PMC article.

4

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.

5

Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.

Waggoner B, Kovach MJ, Winkelman M, Cai D, Khardori R, Gelber D, Kimonis VE. Waggoner B, et al. Among authors: kimonis ve. Am J Med Genet. 2002 Mar 15;108(3):187-91. doi: 10.1002/ajmg.10199. Am J Med Genet. 2002. PMID: 11891683

6

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

7

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.

8

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Kimonis VE, et al. Genet Med. 2004 Nov-Dec;6(6):495-502. doi: 10.1097/01.gim.0000145045.17711.1c. Genet Med. 2004. PMID: 15545745

9

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

10

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

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