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Journal Abstract Search

253 related items for PubMed ID: 29127544

  • 1. 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; 37(4):1129-1136. PubMed ID: 29127544
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  • 2. 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
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  • 3. 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
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  • 4. Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum.
    Falcão de Campos C, de Carvalho M.
    J Clin Neurosci; 2019 Jun; 64():8-10. PubMed ID: 30955949
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  • 5. Characteristics of VCP mutation-associated cardiomyopathy.
    Wang SC, Smith CD, Lombardo DM, Kimonis V.
    Neuromuscul Disord; 2021 Aug; 31(8):701-705. PubMed ID: 34244020
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  • 7. The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?
    Clemen CS, Winter L, Strucksberg KH, Berwanger C, Türk M, Kornblum C, Florin A, Aguilar-Pimentel JA, Amarie OV, Becker L, Garrett L, Hans W, Moreth K, Neff F, Pingen L, Rathkolb B, Rácz I, Rozman J, Treise I, Fuchs H, Gailus-Durner V, de Angelis MH, Vorgerd M, Eichinger L, Schröder R.
    Biochem Biophys Res Commun; 2018 Sep 18; 503(4):2770-2777. PubMed ID: 30100055
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  • 8. Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia.
    Peyer AK, Kinter J, Hench J, Frank S, Fuhr P, Thomann S, Fischmann A, Kneifel S, Camaño P, López de Munain A, Sinnreich M, Renaud S.
    Neuromuscul Disord; 2013 Feb 18; 23(2):149-54. PubMed ID: 23140793
    [Abstract] [Full Text] [Related]

  • 9. [Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia].
    Hayashi Y.
    Rinsho Shinkeigaku; 2013 Feb 18; 53(11):947-50. PubMed ID: 24291843
    [Abstract] [Full Text] [Related]

  • 10. [Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy].
    Mengel D, Librizzi D, Schoser B, Gläser D, Clemen CS, Dodel R, Schröder R.
    Fortschr Neurol Psychiatr; 2018 Jul 18; 86(7):434-438. PubMed ID: 30029282
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  • 13. Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry.
    Columbres RCA, Luu V, Nguyen M, Kimonis V.
    Muscle Nerve; 2024 Jun 18; 69(6):699-707. PubMed ID: 38551101
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  • 15. 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 18; 45(3):522-31. PubMed ID: 21892620
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  • 16. [An advanced case of myopathy and dementia with a new mutation in the valosin-containing protein gene].
    Kamiyama T, Sengoku R, Sasaki M, Hayashi Y, Nishino I, Mochio S, Iguchi Y.
    Rinsho Shinkeigaku; 2013 Nov 18; 53(6):465-9. PubMed ID: 23782825
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  • 17. IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation.
    Bayraktar O, Oral O, Kocaturk NM, Akkoc Y, Eberhart K, Kosar A, Gozuacik D.
    PLoS One; 2016 Nov 18; 11(10):e0164864. PubMed ID: 27768726
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  • 19. 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 18; 68(6):787-96. PubMed ID: 21320982
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  • 20. 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 18; 183(2):504-15. PubMed ID: 23747512
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