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Items: 1 to 20 of 129

1.

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

Kwok CT, Morris A, de Belleroche JS.

Eur J Hum Genet. 2014 Apr;22(4):492-6. doi: 10.1038/ejhg.2013.184. Epub 2013 Aug 14.

2.

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.

Teyssou E, Takeda T, Lebon V, Boillée S, Doukouré B, Bataillon G, Sazdovitch V, Cazeneuve C, Meininger V, LeGuern E, Salachas F, Seilhean D, Millecamps S.

Acta Neuropathol. 2013 Apr;125(4):511-22. doi: 10.1007/s00401-013-1090-0. Epub 2013 Feb 17.

PMID:
23417734
3.

Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.

Lucas GJ, Hocking LJ, Daroszewska A, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Meier C, Hooper MJ, Ralston SH.

J Bone Miner Res. 2005 Feb;20(2):227-31. Epub 2004 Nov 16.

4.

Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.

Johnson-Pais TL, Wisdom JH, Weldon KS, Cody JD, Hansen MF, Singer FR, Leach RJ.

J Bone Miner Res. 2003 Oct;18(10):1748-53.

5.

VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.

Kwok CT, Wang HY, Morris AG, Smith B, Shaw C, de Belleroche J.

J Neurol Sci. 2015 Feb 15;349(1-2):209-13. doi: 10.1016/j.jns.2015.01.021. Epub 2015 Jan 17.

PMID:
25618255
6.

Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States.

Rhodes EC, Johnson-Pais TL, Singer FR, Ankerst DP, Bruder JM, Wisdom J, Hoon DS, Lin E, Bone HG, Simcic KJ, Leach RJ.

Calcif Tissue Int. 2008 Apr;82(4):271-7. doi: 10.1007/s00223-008-9114-9. Epub 2008 Apr 1.

PMID:
18379713
7.

Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.

Morissette J, Laurin N, Brown JP.

J Bone Miner Res. 2006 Dec;21 Suppl 2:P38-44.

8.

Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population.

Michou L, Morissette J, Gagnon ER, Marquis A, Dellabadia M, Brown JP, Siris ES.

Bone. 2011 Mar 1;48(3):456-60. doi: 10.1016/j.bone.2010.11.004. Epub 2010 Nov 10.

PMID:
21073987
9.

Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).

Falchetti A, Di Stefano M, Marini F, Del Monte F, Mavilia C, Strigoli D, De Feo ML, Isaia G, Masi L, Amedei A, Cioppi F, Ghinoi V, Bongi SM, Di Fede G, Sferrazza C, Rini GB, Melchiorre D, Matucci-Cerinic M, Brandi ML.

J Bone Miner Res. 2004 Jun;19(6):1013-7. Epub 2004 Feb 2.

10.

Epidemiogenetic study of French families with Paget's disease of bone.

Michou L, Collet C, Morissette J, Audran M, Thomas T, Gagnon E, Launay JM, Laplanche JL, Brown JP, Orcel P.

Joint Bone Spine. 2012 Jul;79(4):393-8. doi: 10.1016/j.jbspin.2011.07.005. Epub 2011 Oct 1.

PMID:
21962384
11.

SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.

Rea SL, Majcher V, Searle MS, Layfield R.

Exp Cell Res. 2014 Jul 1;325(1):27-37. doi: 10.1016/j.yexcr.2014.01.020. Epub 2014 Jan 30. Review.

PMID:
24486447
12.

Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone.

Falchetti A, Di Stefano M, Marini F, Ortolani S, Ulivieri MF, Bergui S, Masi L, Cepollaro C, Benucci M, Di Munno O, Rossini M, Adami S, Del Puente A, Isaia G, Torricelli F, Brandi ML; GenePage Project.

Calcif Tissue Int. 2009 Jan;84(1):20-37. doi: 10.1007/s00223-008-9192-8. Epub 2008 Dec 9.

PMID:
19067022
13.

Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.

Beyens G, Van Hul E, Van Driessche K, Fransen E, Devogelaer JP, Vanhoenacker F, Van Offel J, Verbruggen L, De Clerck L, Westhovens R, Van Hul W.

Calcif Tissue Int. 2004 Aug;75(2):144-52. Epub 2004 May 20.

PMID:
15164150
14.

Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.

Falchetti A, Di Stefano M, Marini F, Del Monte F, Gozzini A, Masi L, Tanini A, Amedei A, Carossino A, Isaia G, Brandi ML.

Arthritis Res Ther. 2005;7(6):R1289-95. Epub 2005 Sep 15.

15.

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Rubino E, Rainero I, Chiò A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, Bruni AC, St George-Hyslop PH, Scarpini E, Gallone S, Pinessi L; TODEM Study Group.

Neurology. 2012 Oct 9;79(15):1556-62. doi: 10.1212/WNL.0b013e31826e25df. Epub 2012 Sep 12.

16.

Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.

Rea SL, Walsh JP, Ward L, Magno AL, Ward BK, Shaw B, Layfield R, Kent GN, Xu J, Ratajczak T.

J Bone Miner Res. 2009 Jul;24(7):1216-23. doi: 10.1359/jbmr.090214.

17.

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

Collet C, Michou L, Audran M, Chasseigneaux S, Hilliquin P, Bardin T, Lemaire I, Cornélis F, Launay JM, Orcel P, Laplanche JL.

J Bone Miner Res. 2007 Feb;22(2):310-7.

18.

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.

Hocking LJ, Lucas GJ, Daroszewska A, Mangion J, Olavesen M, Cundy T, Nicholson GC, Ward L, Bennett ST, Wuyts W, Van Hul W, Ralston SH.

Hum Mol Genet. 2002 Oct 15;11(22):2735-9.

19.

Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis.

Gu JM, Zhang ZL, Zhang H, Hu WW, Wang C, Yue H, Ke YH, He JW, Hu YQ, Li M, Liu YJ, Fu WZ.

J Bone Miner Metab. 2012 Sep;30(5):525-33. doi: 10.1007/s00774-012-0352-6. Epub 2012 Apr 11.

PMID:
22491873
20.

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone.

Gennari L, Gianfrancesco F, Di Stefano M, Rendina D, Merlotti D, Esposito T, Gallone S, Fusco P, Rainero I, Fenoglio P, Mancini M, Martini G, Bergui S, De Filippo G, Isaia G, Strazzullo P, Nuti R, Mossetti G.

J Bone Miner Res. 2010 Jun;25(6):1375-84. doi: 10.1002/jbmr.31.

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