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Items: 17

1.

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.

PMID:
17935506
2.

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.

3.

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
4.

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
5.

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. doi: 10.1016/j.nmd.2009.01.009. Epub 2009 Apr 19. Review.

6.

[Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia].

Hayashi Y.

Rinsho Shinkeigaku. 2013;53(11):947-50. Review. Japanese.

PMID:
24291843
7.

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 15;19(R1):R38-45. doi: 10.1093/hmg/ddq157. Epub 2010 Apr 21. Review.

8.

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder.

Kimonis VE, Fulchiero E, Vesa J, Watts G.

Biochim Biophys Acta. 2008 Dec;1782(12):744-8. doi: 10.1016/j.bbadis.2008.09.003. Epub 2008 Sep 18. Review.

10.

Hereditary inclusion-body myopathies.

Broccolini A, Mirabella M.

Biochim Biophys Acta. 2015 Apr;1852(4):644-50. doi: 10.1016/j.bbadis.2014.08.007. Epub 2014 Aug 19. Review.

11.

Structural and functional deviations in disease-associated p97 mutants.

Tang WK, Xia D.

J Struct Biol. 2012 Aug;179(2):83-92. doi: 10.1016/j.jsb.2012.04.024. Epub 2012 May 8. Review.

12.

Recent advances in p97/VCP/Cdc48 cellular functions.

Yamanaka K, Sasagawa Y, Ogura T.

Biochim Biophys Acta. 2012 Jan;1823(1):130-7. doi: 10.1016/j.bbamcr.2011.07.001. Epub 2011 Jul 12. Review.

14.

Mechanisms of Cdc48/VCP-mediated cell death: from yeast apoptosis to human disease.

Braun RJ, Zischka H.

Biochim Biophys Acta. 2008 Jul;1783(7):1418-35. doi: 10.1016/j.bbamcr.2008.01.015. Epub 2008 Feb 2. Review.

15.

Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia.

Kimonis V, Donkervoort S, Watts G.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 May 25 [updated 2011 Jul 28].

16.

[Frontotemporal dementia].

Le Ber I, Dubois B.

Presse Med. 2007 Oct;36(10 Pt 2):1477-84. Epub 2007 Jun 6. Review. French.

PMID:
17555915
17.

Insights into muscle degeneration from heritable inclusion body myopathies.

Krause S.

Front Aging Neurosci. 2015 Feb 12;7:13. doi: 10.3389/fnagi.2015.00013. eCollection 2015. Review.

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