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Items: 12

1.

Exome sequencing reveals VCP mutations as a cause of familial ALS.

Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang YD, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G; ITALSGEN Consortium, Galassi G, Scholz SW, Taylor JP, Restagno G, Chiò A, Traynor BJ.

Neuron. 2010 Dec 9;68(5):857-64. doi: 10.1016/j.neuron.2010.11.036. Erratum in: Neuron. 2011 Jan 27;69(2):397.

2.

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
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.

[Frontotemporal dementia (FTD) and genetic mutations including progranulin gene].

Arai T, Hasegawa M, Nishihara M, Nonaka T, Kametani F, Yoshida M, Hashizume Y, Beach TG, Morita M, Nakano I, Oda T, Tsuchiya K, Akiyama H.

Rinsho Shinkeigaku. 2008 Nov;48(11):990-3. Review. Japanese.

PMID:
19198141
5.

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.

6.

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.

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.

9.

ALS and FTLD: two faces of TDP-43 proteinopathy.

Liscic RM, Grinberg LT, Zidar J, Gitcho MA, Cairns NJ.

Eur J Neurol. 2008 Aug;15(8):772-80. doi: 10.1111/j.1468-1331.2008.02195.x. Review.

10.

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum.

Van Langenhove T, van der Zee J, Van Broeckhoven C.

Ann Med. 2012 Dec;44(8):817-28. doi: 10.3109/07853890.2012.665471. Epub 2012 Mar 16. Review.

11.

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.

12.

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