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Journal Abstract Search

343 related items for PubMed ID: 16783167

  • 1. 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.
    J Neuropathol Exp Neurol; 2006 Jun; 65(6):571-81. PubMed ID: 16783167
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

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  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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 22; 67(4):644-51. PubMed ID: 16790606
    [Abstract] [Full Text] [Related]

  • 6. Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.
    van der Zee J, Pirici D, Van Langenhove T, Engelborghs S, Vandenberghe R, Hoffmann M, Pusswald G, Van den Broeck M, Peeters K, Mattheijssens M, Martin JJ, De Deyn PP, Cruts M, Haubenberger D, Kumar-Singh S, Zimprich A, Van Broeckhoven C.
    Neurology; 2009 Aug 25; 73(8):626-32. PubMed ID: 19704082
    [Abstract] [Full Text] [Related]

  • 7. 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 25; 45(3):522-31. PubMed ID: 21892620
    [Abstract] [Full Text] [Related]

  • 8. 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 25; 72(5):420-6. PubMed ID: 17935506
    [Abstract] [Full Text] [Related]

  • 9. 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 25; 183(2):504-15. PubMed ID: 23747512
    [Abstract] [Full Text] [Related]

  • 10. Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation.
    Weihl CC, Dalal S, Pestronk A, Hanson PI.
    Hum Mol Genet; 2006 Jan 15; 15(2):189-99. PubMed ID: 16321991
    [Abstract] [Full Text] [Related]

  • 11. Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.
    Kimonis VE, Watts GD.
    Alzheimer Dis Assoc Disord; 2005 Jan 15; 19 Suppl 1():S44-7. PubMed ID: 16317258
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 20(2):251-8. PubMed ID: 22900631
    [Abstract] [Full Text] [Related]

  • 13. 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 03; 7(2):e1001288. PubMed ID: 21304887
    [Abstract] [Full Text] [Related]

  • 14. VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD.
    Tresse E, Salomons FA, Vesa J, Bott LC, Kimonis V, Yao TP, Dantuma NP, Taylor JP.
    Autophagy; 2010 Feb 03; 6(2):217-27. PubMed ID: 20104022
    [Abstract] [Full Text] [Related]

  • 15. Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease.
    Ju JS, Fuentealba RA, Miller SE, Jackson E, Piwnica-Worms D, Baloh RH, Weihl CC.
    J Cell Biol; 2009 Dec 14; 187(6):875-88. PubMed ID: 20008565
    [Abstract] [Full Text] [Related]

  • 16. Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis.
    Weihl CC.
    Curr Alzheimer Res; 2011 May 14; 8(3):252-60. PubMed ID: 21222596
    [Abstract] [Full Text] [Related]

  • 17. 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.
    Am J Med Genet A; 2008 Mar 15; 146A(6):745-57. PubMed ID: 18260132
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 44(4):374-80. PubMed ID: 21412659
    [Abstract] [Full Text] [Related]

  • 19. Pathological consequences of VCP mutations on human striated muscle.
    Hübbers CU, Clemen CS, Kesper K, Böddrich A, Hofmann A, Kämäräinen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoser BG, Noegel AA, Schröder R.
    Brain; 2007 Feb 15; 130(Pt 2):381-93. PubMed ID: 16984901
    [Abstract] [Full Text] [Related]

  • 20. VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.
    Gitcho MA, Strider J, Carter D, Taylor-Reinwald L, Forman MS, Goate AM, Cairns NJ.
    J Biol Chem; 2009 May 01; 284(18):12384-98. PubMed ID: 19237541
    [Abstract] [Full Text] [Related]

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