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6. Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. Guinto JB; Ritson GP; Taylor JP; Forman MS Acta Neuropathol; 2007 Jul; 114(1):55-61. PubMed ID: 17457594 [TBL] [Abstract][Full Text] [Related]
7. Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. Kim EJ; Park YE; Kim DS; Ahn BY; Kim HS; Chang YH; Kim SJ; Kim HJ; Lee HW; Seeley WW; Kim S Arch Neurol; 2011 Jun; 68(6):787-96. PubMed ID: 21320982 [TBL] [Abstract][Full Text] [Related]
8. Valosin-containing protein gene mutations: clinical and neuropathologic features. Guyant-Maréchal L; Laquerrière A; Duyckaerts C; Dumanchin C; Bou J; Dugny F; Le Ber I; Frébourg T; Hannequin D; Campion D Neurology; 2006 Aug; 67(4):644-51. PubMed ID: 16790606 [TBL] [Abstract][Full Text] [Related]
9. A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Fanganiello RD; Kimonis VE; Côrte CC; Nitrini R; Passos-Bueno MR Braz J Med Biol Res; 2011 Apr; 44(4):374-80. PubMed ID: 21412659 [TBL] [Abstract][Full Text] [Related]
11. A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia. Djamshidian A; Schaefer J; Haubenberger D; Stogmann E; Zimprich F; Auff E; Zimprich A Muscle Nerve; 2009 Mar; 39(3):389-91. PubMed ID: 19208399 [TBL] [Abstract][Full Text] [Related]
12. 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 J Mol Neurosci; 2011 Nov; 45(3):522-31. PubMed ID: 21892620 [TBL] [Abstract][Full Text] [Related]
13. Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone. Custer SK; Neumann M; Lu H; Wright AC; Taylor JP Hum Mol Genet; 2010 May; 19(9):1741-55. PubMed ID: 20147319 [TBL] [Abstract][Full Text] [Related]
14. Pathogenic VCP/TER94 alleles are dominant actives and contribute to neurodegeneration by altering cellular ATP level in a Drosophila IBMPFD model. Chang YC; Hung WT; Chang YC; Chang HC; Wu CL; Chiang AS; Jackson GR; Sang TK PLoS Genet; 2011 Feb; 7(2):e1001288. PubMed ID: 21304887 [TBL] [Abstract][Full Text] [Related]
15. Valosin-containing protein and neurofibromin interact to regulate dendritic spine density. Wang HF; Shih YT; Chen CY; Chao HW; Lee MJ; Hsueh YP J Clin Invest; 2011 Dec; 121(12):4820-37. PubMed ID: 22105171 [TBL] [Abstract][Full Text] [Related]
16. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. Neumann M; Mackenzie IR; Cairns NJ; Boyer PJ; Markesbery WR; Smith CD; Taylor JP; Kretzschmar HA; Kimonis VE; Forman MS J Neuropathol Exp Neurol; 2007 Feb; 66(2):152-7. PubMed ID: 17279000 [TBL] [Abstract][Full Text] [Related]
17. Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. Weihl CC; Pestronk A; Kimonis VE Neuromuscul Disord; 2009 May; 19(5):308-15. PubMed ID: 19380227 [TBL] [Abstract][Full Text] [Related]
18. Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy. Ju JS; Weihl CC Hum Mol Genet; 2010 Apr; 19(R1):R38-45. PubMed ID: 20410287 [TBL] [Abstract][Full Text] [Related]
19. 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 Clin Genet; 2007 Nov; 72(5):420-6. PubMed ID: 17935506 [TBL] [Abstract][Full Text] [Related]
20. Phenotypic variability in three families with valosin-containing protein mutation. Spina S; Van Laar AD; Murrell JR; Hamilton RL; Kofler JK; Epperson F; Farlow MR; Lopez OL; Quinlan J; DeKosky ST; Ghetti B Eur J Neurol; 2013 Feb; 20(2):251-8. PubMed ID: 22900631 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]