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Results: 1 to 20 of 43

1.

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia.

Mackenzie IR, Rademakers R, Neumann M.

Lancet Neurol. 2010 Oct;9(10):995-1007. doi: 10.1016/S1474-4422(10)70195-2. Review.

PMID:
20864052
[PubMed - indexed for MEDLINE]
2.

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB.

PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991.

PMID:
20577567
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97.

Ritson GP, Custer SK, Freibaum BD, Guinto JB, Geffel D, Moore J, Tang W, Winton MJ, Neumann M, Trojanowski JQ, Lee VM, Forman MS, Taylor JP.

J Neurosci. 2010 Jun 2;30(22):7729-39. doi: 10.1523/JNEUROSCI.5894-09.2010.

PMID:
20519548
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants.

Tang WK, Li D, Li CC, Esser L, Dai R, Guo L, Xia D.

EMBO J. 2010 Jul 7;29(13):2217-29. doi: 10.1038/emboj.2010.104. Epub 2010 May 28.

PMID:
20512113
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Imbalances in p97 co-factor interactions in human proteinopathy.

Fernández-Sáiz V, Buchberger A.

EMBO Rep. 2010 Jun;11(6):479-85. doi: 10.1038/embor.2010.49. Epub 2010 Apr 23.

PMID:
20414249
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
20410287
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings.

Kumar KR, Needham M, Mina K, Davis M, Brewer J, Staples C, Ng K, Sue CM, Mastaglia FL.

Neuromuscul Disord. 2010 May;20(5):330-4. doi: 10.1016/j.nmd.2010.03.002. Epub 2010 Mar 23.

PMID:
20335036
[PubMed - indexed for MEDLINE]
8.

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone.

Custer SK, Neumann M, Lu H, Wright AC, Taylor JP.

Hum Mol Genet. 2010 May 1;19(9):1741-55. doi: 10.1093/hmg/ddq050. Epub 2010 Feb 10.

PMID:
20147319
[PubMed - indexed for MEDLINE]
Free Article
9.

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;6(2):217-27. Epub 2010 Feb 22.

PMID:
20104022
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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. doi: 10.1083/jcb.200908115.

PMID:
20008565
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Exome sequencing identifies the cause of a mendelian disorder.

Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ.

Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13.

PMID:
19915526
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Inclusion body myositis: old and new concepts.

Amato AA, Barohn RJ.

J Neurol Neurosurg Psychiatry. 2009 Nov;80(11):1186-93. doi: 10.1136/jnnp.2009.173823. Review.

PMID:
19864656
[PubMed - indexed for MEDLINE]
13.

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP.

Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27.

PMID:
19861545
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A mutation that creates a pseudoexon in SOD1 causes familial ALS.

Valdmanis PN, Belzil VV, Lee J, Dion PA, St-Onge J, Hince P, Funalot B, Couratier P, Clavelou P, Camu W, Rouleau GA.

Ann Hum Genet. 2009 Nov;73(Pt 6):652-7. No abstract available.

PMID:
19847927
[PubMed - indexed for MEDLINE]
15.

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. doi: 10.1212/WNL.0b013e3181b389d9.

PMID:
19704082
[PubMed - indexed for MEDLINE]
16.

Targeted capture and massively parallel sequencing of 12 human exomes.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J.

Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.

PMID:
19684571
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation.

Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Mandrioli J, Salvi F, Spataro R, Schymick J, Traynor BJ, La Bella V; ITALSGEN Consortium.

Neurobiol Aging. 2009 Aug;30(8):1272-5. doi: 10.1016/j.neurobiolaging.2009.05.001. Epub 2009 May 17.

PMID:
19450904
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

PMID:
19380227
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE.

Science. 2009 Feb 27;323(5918):1208-11. doi: 10.1126/science.1165942.

PMID:
19251628
[PubMed - indexed for MEDLINE]
Free Article
20.

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr.

Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066.

PMID:
19251627
[PubMed - indexed for MEDLINE]
Free Article
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