Mehta SG - Search Results

1

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: mehta sg. Clin Genet. 2007 Nov;72(5):420-6. doi: 10.1111/j.1399-0004.2007.00887.x. Clin Genet. 2007. PMID: 17935506

2

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.

Mehta SG, Khare M, Ramani R, Watts GD, Simon M, Osann KE, Donkervoort S, Dec E, Nalbandian A, Platt J, Pasquali M, Wang A, Mozaffar T, Smith CD, Kimonis VE. Mehta SG, et al. Clin Genet. 2013 May;83(5):422-31. doi: 10.1111/cge.12000. Epub 2012 Oct 4. Clin Genet. 2013. PMID: 22909335 Free PMC article.

3

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: mehta sg. Nat Genet. 2004 Apr;36(4):377-81. doi: 10.1038/ng1332. Epub 2004 Mar 21. Nat Genet. 2004. PMID: 15034582 Free article.

4

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. 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

5

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. Genet Med. 2007 Jan;9(1):9-13. doi: 10.1097/gim.0b013e31802d830d. Genet Med. 2007. PMID: 17224685 Free article.

6

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.

Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GD. Kimonis VE, et al. Among authors: mehta sg. Am J Med Genet A. 2008 Mar 15;146A(6):745-57. doi: 10.1002/ajmg.a.31862. Am J Med Genet A. 2008. PMID: 18260132 Free PMC article.

7

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: mehta sg. Bone. 2006 Feb;38(2):280-5. doi: 10.1016/j.bone.2005.07.014. Epub 2005 Sep 30. Bone. 2006. PMID: 16199218

8

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: mehta sg. 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

9

Mutant valosin-containing protein causes a novel type of frontotemporal dementia.

Schröder R, Watts GD, Mehta SG, Evert BO, Broich P, Fliessbach K, Pauls K, Hans VH, Kimonis V, Thal DR. Schröder R, et al. Among authors: mehta sg. Ann Neurol. 2005 Mar;57(3):457-61. doi: 10.1002/ana.20407. Ann Neurol. 2005. PMID: 15732117

10

Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.

Camacho-Vanegas O, Camacho SC, Till J, Miranda-Lorenzo I, Terzo E, Ramirez MC, Schramm V, Cordovano G, Watts G, Mehta S, Kimonis V, Hoch B, Philibert KD, Raabe CA, Bishop DF, Glucksman MJ, Martignetti JA. Camacho-Vanegas O, et al. Am J Hum Genet. 2012 Apr 6;90(4):614-27. doi: 10.1016/j.ajhg.2012.02.024. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464254 Free PMC article.

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