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Items: 1 to 20 of 257

1.

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Gellera C, Tiloca C, Del Bo R, Corrado L, Pensato V, Agostini J, Cereda C, Ratti A, Castellotti B, Corti S, Bagarotti A, Cagnin A, Milani P, Gabelli C, Riboldi G, Mazzini L, Sorarù G, D'Alfonso S, Taroni F, Comi GP, Ticozzi N, Silani V; SLAGEN Consortium.

J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):183-7. doi: 10.1136/jnnp-2012-303433. Epub 2012 Nov 8.

PMID:
23138764
2.

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.

Synofzik M, Maetzler W, Grehl T, Prudlo J, Vom Hagen JM, Haack T, Rebassoo P, Munz M, Schöls L, Biskup S.

Neurobiol Aging. 2012 Dec;33(12):2949.e13-7. doi: 10.1016/j.neurobiolaging.2012.07.002. Epub 2012 Aug 11.

PMID:
22892309
3.

Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis.

Kim HJ, Kwon MJ, Choi WJ, Oh KW, Oh SI, Ki CS, Kim SH.

Neurobiol Aging. 2014 Aug;35(8):1957.e7-8. doi: 10.1016/j.neurobiolaging.2014.03.001. Epub 2014 Mar 5.

PMID:
24684794
4.

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.

Teyssou E, Chartier L, Amador MD, Lam R, Lautrette G, Nicol M, Machat S, Da Barroca S, Moigneu C, Mairey M, Larmonier T, Saker S, Dussert C, Forlani S, Fontaine B, Seilhean D, Bohl D, Boillée S, Meininger V, Couratier P, Salachas F, Stevanin G, Millecamps S.

Neurobiol Aging. 2017 Oct;58:239.e11-239.e20. doi: 10.1016/j.neurobiolaging.2017.06.018. Epub 2017 Jun 24.

PMID:
28716533
5.

Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis.

Osaka M, Ito D, Yagi T, Nihei Y, Suzuki N.

Hum Mol Genet. 2015 Mar 15;24(6):1617-29. doi: 10.1093/hmg/ddu575. Epub 2014 Nov 14.

PMID:
25398946
6.

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis.

Millecamps S, Corcia P, Cazeneuve C, Boillée S, Seilhean D, Danel-Brunaud V, Vandenberghe N, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, Brice A, Meininger V, LeGuern E, Salachas F.

Neurobiol Aging. 2012 Apr;33(4):839.e1-3. doi: 10.1016/j.neurobiolaging.2011.11.010. Epub 2011 Dec 9.

PMID:
22169395
7.

No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population.

Huang X, Shen S, Fan D.

PLoS One. 2017 Jan 26;12(1):e0170943. doi: 10.1371/journal.pone.0170943. eCollection 2017.

8.

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.

Williams KL, Warraich ST, Yang S, Solski JA, Fernando R, Rouleau GA, Nicholson GA, Blair IP.

Neurobiol Aging. 2012 Oct;33(10):2527.e3-10. doi: 10.1016/j.neurobiolaging.2012.05.008. Epub 2012 Jun 19.

PMID:
22717235
9.

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.

10.

Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.

Vengoechea J, David MP, Yaghi SR, Carpenter L, Rudnicki SA.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):615-9. doi: 10.3109/21678421.2013.824001. Epub 2013 Aug 14.

PMID:
23944734
11.

UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis.

Daoud H, Suhail H, Szuto A, Camu W, Salachas F, Meininger V, Bouchard JP, Dupré N, Dion PA, Rouleau GA.

Neurobiol Aging. 2012 Sep;33(9):2230.e1-2230.e5. doi: 10.1016/j.neurobiolaging.2012.03.015. Epub 2012 May 3.

PMID:
22560112
12.

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia.

Yan J, Deng HX, Siddique N, Fecto F, Chen W, Yang Y, Liu E, Donkervoort S, Zheng JG, Shi Y, Ahmeti KB, Brooks B, Engel WK, Siddique T.

Neurology. 2010 Aug 31;75(9):807-14. doi: 10.1212/WNL.0b013e3181f07e0c. Epub 2010 Jul 28.

13.

Ubiquilin 2 modulates ALS/FTD-linked FUS-RNA complex dynamics and stress granule formation.

Alexander EJ, Ghanbari Niaki A, Zhang T, Sarkar J, Liu Y, Nirujogi RS, Pandey A, Myong S, Wang J.

Proc Natl Acad Sci U S A. 2018 Dec 4;115(49):E11485-E11494. doi: 10.1073/pnas.1811997115. Epub 2018 Nov 15.

14.

UBQLN2 variant of unknown significance in frontotemporal lobar degeneration.

Ugwu F, Rollinson S, Harris J, Gerhard A, Richardson A, Jones M, Mann D, Snowden J, Pickering-Brown S.

Neurobiol Aging. 2015 Jan;36(1):546.e15-6. doi: 10.1016/j.neurobiolaging.2014.08.002. Epub 2014 Aug 6.

PMID:
25179229
15.

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.

Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H, Jiang H, Hirano M, Rampersaud E, Jansen GH, Donkervoort S, Bigio EH, Brooks BR, Ajroud K, Sufit RL, Haines JL, Mugnaini E, Pericak-Vance MA, Siddique T.

Nature. 2011 Aug 21;477(7363):211-5. doi: 10.1038/nature10353.

16.

UBQLN2/P62 cellular recycling pathways in amyotrophic lateral sclerosis and frontotemporal dementia.

Fecto F, Siddique T.

Muscle Nerve. 2012 Feb;45(2):157-62. doi: 10.1002/mus.23278.

PMID:
22246868
17.

Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.

Millecamps S, Boillée S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, Moigneu C, Vandenberghe N, Danel-Brunaud V, Corcia P, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, Brice A, Cazeneuve C, Leguern E, Meininger V, Salachas F.

J Med Genet. 2012 Apr;49(4):258-63. doi: 10.1136/jmedgenet-2011-100699.

PMID:
22499346
18.

Molecular basis of ALS and FTD: implications for translational studies.

Liščić RM.

Arh Hig Rada Toksikol. 2015 Dec;66(4):285-90. doi: 10.1515/aiht-2015-66-2679. Review.

PMID:
26751860
19.

UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland.

McLaughlin RL, Kenna KP, Vajda A, Byrne S, Bradley DG, Hardiman O.

Neurobiol Aging. 2014 Jan;35(1):267.e9-11. doi: 10.1016/j.neurobiolaging.2013.07.023. Epub 2013 Aug 21.

PMID:
23973441
20.

Mutation-dependent aggregation and toxicity in a Drosophila model for UBQLN2-associated ALS.

Kim SH, Stiles SG, Feichtmeier JM, Ramesh N, Zhan L, Scalf MA, Smith LM, Pandey UB, Tibbetts RS.

Hum Mol Genet. 2018 Jan 15;27(2):322-337. doi: 10.1093/hmg/ddx403.

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