Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 119

1.

Axonal hyperpolarization in inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD).

Kumar KR, Liang C, Needham M, Burke D, Sue CM, Ng K.

Muscle Nerve. 2011 Aug;44(2):191-6. doi: 10.1002/mus.22020. Epub 2011 May 23.

PMID:
21607982
2.

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. doi: 10.1001/archneurol.2010.376. Epub 2011 Feb 14.

PMID:
21320982
3.

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.

Haubenberger D, Bittner RE, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, Mineva I, Vass K, Auff E, Zimprich A.

Neurology. 2005 Oct 25;65(8):1304-5.

PMID:
16247064
4.

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. doi: 10.1002/mus.21225.

PMID:
19208399
5.

An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.

Gidaro T, Modoni A, Sabatelli M, Tasca G, Broccolini A, Mirabella M.

Muscle Nerve. 2008 Jan;37(1):111-4.

PMID:
17763460
6.

Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.

Kimonis VE, Watts GD.

Alzheimer Dis Assoc Disord. 2005 Oct-Dec;19 Suppl 1:S44-7.

PMID:
16317258
7.

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. Epub 2006 Jun 21.

PMID:
16790606
8.

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.

Nat Genet. 2004 Apr;36(4):377-81. Epub 2004 Mar 21.

PMID:
15034582
9.

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. Epub 2007 Apr 25. Review.

PMID:
17457594
10.

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. doi: 10.1172/JCI45677. Epub 2011 Nov 21.

11.

Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein.

Krause S, Göhringer T, Walter MC, Schoser BG, Reilich P, Linn J, Pöpperl GE, Frölich L, Hentschel F, Lochmüller H, Danek A.

Clin Neuropathol. 2007 Sep-Oct;26(5):232-40.

PMID:
17907600
12.

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.

Clin Genet. 2013 May;83(5):422-31. doi: 10.1111/cge.12000. Epub 2012 Oct 4.

13.

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.

PMID:
16783167
14.

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.

Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE.

Mol Genet Metab. 2001 Dec;74(4):458-75.

PMID:
11749051
15.

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. doi: 10.1016/j.bone.2012.09.012. Epub 2012 Sep 19.

PMID:
23000505
16.

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;130(Pt 2):381-93. Epub 2006 Sep 19.

PMID:
16984901
17.

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. doi: 10.1007/s12031-011-9627-y. Epub 2011 Sep 3. Review.

PMID:
21892620
18.

Enhanced ATPase activities as a primary defect of mutant valosin-containing proteins that cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

Manno A, Noguchi M, Fukushi J, Motohashi Y, Kakizuka A.

Genes Cells. 2010 Aug;15(8):911-22. doi: 10.1111/j.1365-2443.2010.01428.x. Epub 2010 Jul 5.

19.

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. Epub 2011 Mar 11. Review.

20.

[A case of inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease].

Igari R, Wada M, Sato H, K Hayashi Y, Nishino I, Kato T.

Rinsho Shinkeigaku. 2013;53(6):458-64. Japanese.

PMID:
23782824

Supplemental Content

Support Center