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Results: 1 to 20 of 274

1.

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.

PMID:
20668259
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China.

Zou ZY, Cui LY, Sun Q, Li XG, Liu MS, Xu Y, Zhou Y, Yang XZ.

Neurobiol Aging. 2013 Apr;34(4):1312.e1-8. doi: 10.1016/j.neurobiolaging.2012.09.005. Epub 2012 Oct 6.

PMID:
23046859
[PubMed - indexed for MEDLINE]
4.

FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis.

Deng HX, Zhai H, Bigio EH, Yan J, Fecto F, Ajroud K, Mishra M, Ajroud-Driss S, Heller S, Sufit R, Siddique N, Mugnaini E, Siddique T.

Ann Neurol. 2010 Jun;67(6):739-48. doi: 10.1002/ana.22051.

PMID:
20517935
[PubMed - indexed for MEDLINE]
5.

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.

Tsai CP, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.

Neurobiol Aging. 2011 Mar;32(3):553.e13-21. doi: 10.1016/j.neurobiolaging.2010.04.009. Epub 2010 May 15.

PMID:
20472325
[PubMed - indexed for MEDLINE]
6.

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS.

Kwon MJ, Baek W, Ki CS, Kim HY, Koh SH, Kim JW, Kim SH.

Neurobiol Aging. 2012 May;33(5):1017.e17-23. doi: 10.1016/j.neurobiolaging.2011.12.003. Epub 2012 Jan 15.

PMID:
22244934
[PubMed - indexed for MEDLINE]
7.

Novel missense and truncating mutations in FUS/TLS in familial ALS.

Waibel S, Neumann M, Rabe M, Meyer T, Ludolph AC.

Neurology. 2010 Aug 31;75(9):815-7. doi: 10.1212/WNL.0b013e3181f07e26. Epub 2010 Jul 21.

PMID:
20660363
[PubMed - indexed for MEDLINE]
8.

Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.

Zou ZY, Peng Y, Feng XH, Wang XN, Sun Q, Liu MS, Li XG, Cui LY.

Eur J Neurol. 2012 Jul;19(7):977-83. doi: 10.1111/j.1468-1331.2012.03662.x. Epub 2012 Feb 16.

PMID:
22340366
[PubMed - indexed for MEDLINE]
9.

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

Bertolin C, D'Ascenzo C, Querin G, Gaiani A, Boaretto F, Salvoro C, Vazza G, Angelini C, Cagnin A, Pegoraro E, Sorarù G, Mostacciuolo ML.

Neurobiol Aging. 2014 May;35(5):1212.e7-1212.e10. doi: 10.1016/j.neurobiolaging.2013.10.093. Epub 2013 Oct 29.

PMID:
24325798
[PubMed - indexed for MEDLINE]
10.

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, Williams TL, Ince PG, McDermott CJ, Shaw PJ.

Arch Neurol. 2010 Apr;67(4):455-61. doi: 10.1001/archneurol.2010.52.

PMID:
20385912
[PubMed - indexed for MEDLINE]
11.

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis.

Rademakers R, Stewart H, Dejesus-Hernandez M, Krieger C, Graff-Radford N, Fabros M, Briemberg H, Cashman N, Eisen A, Mackenzie IR.

Muscle Nerve. 2010 Aug;42(2):170-6. doi: 10.1002/mus.21665.

PMID:
20544928
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
[PubMed - indexed for MEDLINE]
13.

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.

Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, Sorarù G, Carlomagno Y, Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano G, Mazzini L, Comi GP, Gellera C, Ceroni M, D'Alfonso S, Silani V.

J Med Genet. 2010 Mar;47(3):190-4. doi: 10.1136/jmg.2009.071027. Epub 2009 Oct 26.

PMID:
19861302
[PubMed - indexed for MEDLINE]
14.

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis.

Kabashi E, Bercier V, Lissouba A, Liao M, Brustein E, Rouleau GA, Drapeau P.

PLoS Genet. 2011 Aug;7(8):e1002214. doi: 10.1371/journal.pgen.1002214. Epub 2011 Aug 4.

PMID:
21829392
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.

Lattante S, Rouleau GA, Kabashi E.

Hum Mutat. 2013 Jun;34(6):812-26. doi: 10.1002/humu.22319. Epub 2013 Apr 29. Review.

PMID:
23559573
[PubMed - indexed for MEDLINE]
16.

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.

Ticozzi N, Silani V, LeClerc AL, Keagle P, Gellera C, Ratti A, Taroni F, Kwiatkowski TJ Jr, McKenna-Yasek DM, Sapp PC, Brown RH Jr, Landers JE.

Neurology. 2009 Oct 13;73(15):1180-5. doi: 10.1212/WNL.0b013e3181bbff05. Epub 2009 Sep 9.

PMID:
19741215
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Mutations of optineurin in amyotrophic lateral sclerosis.

Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H.

Nature. 2010 May 13;465(7295):223-6. doi: 10.1038/nature08971. Epub 2010 Apr 28.

PMID:
20428114
[PubMed - indexed for MEDLINE]
18.

Molecular basis of amyotrophic lateral sclerosis.

Liscic RM, Breljak D.

Prog Neuropsychopharmacol Biol Psychiatry. 2011 Mar 30;35(2):370-2. doi: 10.1016/j.pnpbp.2010.07.017. Epub 2010 Jul 23. Review.

PMID:
20655970
[PubMed - indexed for MEDLINE]
19.

Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH, van den Berg LH.

Hum Mol Genet. 2012 Sep 1;21(17):3776-84. doi: 10.1093/hmg/dds199. Epub 2012 May 29.

PMID:
22645277
[PubMed - indexed for MEDLINE]
Free Article
20.

Mutations in FUS cause FALS and SALS in French and French Canadian populations.

Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, Gauthier J; S2D team, Hince P, Desjarlais A, Bouchard JP, Lacomblez L, Salachas F, Pradat PF, Camu W, Meininger V, Dupré N, Rouleau GA.

Neurology. 2009 Oct 13;73(15):1176-9. doi: 10.1212/WNL.0b013e3181bbfeef. Epub 2009 Sep 9.

PMID:
19741216
[PubMed - indexed for MEDLINE]
Free PMC Article
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