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294 related items for PubMed ID: 22900631
1. 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 [Abstract] [Full Text] [Related]
3. A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family. Gu JM, Ke YH, Yue H, Liu YJ, Zhang Z, Zhang H, Hu WW, Wang C, He JW, Hu YQ, Li M, Fu WZ, Zhang ZL. Bone; 2013 Jan; 52(1):9-16. PubMed ID: 23000505 [Abstract] [Full Text] [Related]
8. 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 01; 19(9):1741-55. PubMed ID: 20147319 [Abstract] [Full Text] [Related]
10. Neuronal-specific overexpression of a mutant valosin-containing protein associated with IBMPFD promotes aberrant ubiquitin and TDP-43 accumulation and cognitive dysfunction in transgenic mice. Rodriguez-Ortiz CJ, Hoshino H, Cheng D, Liu-Yescevitz L, Blurton-Jones M, Wolozin B, LaFerla FM, Kitazawa M. Am J Pathol; 2013 Aug 01; 183(2):504-15. PubMed ID: 23747512 [Abstract] [Full Text] [Related]
13. A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation. Shinjo SK, Oba-Shinjo SM, Lerario AM, Marie SKN. Clin Rheumatol; 2018 Apr 01; 37(4):1129-1136. PubMed ID: 29127544 [Abstract] [Full Text] [Related]
15. The multifaceted clinical presentation of VCP-proteinopathy in a Greek family. Papadimas GK, Paraskevas GP, Zambelis T, Karagiaouris C, Bourbouli M, Bougea A, Walter MC, Schumacher NU, Krause S, Kapaki E. Acta Myol; 2017 Dec 01; 36(4):203-206. PubMed ID: 29770363 [Abstract] [Full Text] [Related]
17. 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 01; 68(6):787-96. PubMed ID: 21320982 [Abstract] [Full Text] [Related]
18. 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 01; 72(5):420-6. PubMed ID: 17935506 [Abstract] [Full Text] [Related]
19. 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 01; 114(1):55-61. PubMed ID: 17457594 [Abstract] [Full Text] [Related]
20. The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology. Nalbandian A, Llewellyn KJ, Kitazawa M, Yin HZ, Badadani M, Khanlou N, Edwards R, Nguyen C, Mukherjee J, Mozaffar T, Watts G, Weiss J, Kimonis VE. PLoS One; 2012 Jul 01; 7(9):e46308. PubMed ID: 23029473 [Abstract] [Full Text] [Related] Page: [Next] [New Search]