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Items: 1 to 20 of 185

1.

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.

DeJesus-Hernandez M, Kocerha J, Finch N, Crook R, Baker M, Desaro P, Johnston A, Rutherford N, Wojtas A, Kennelly K, Wszolek ZK, Graff-Radford N, Boylan K, Rademakers R.

Hum Mutat. 2010 May;31(5):E1377-89. doi: 10.1002/humu.21241.

2.

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.

3.

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
4.

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
5.

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.

Chiò A, Calvo A, Moglia C, Ossola I, Brunetti M, Sbaiz L, Lai SL, Abramzon Y, Traynor BJ, Restagno G.

Neurobiol Aging. 2011 Mar;32(3):553.e23-6. doi: 10.1016/j.neurobiolaging.2010.05.016. Epub 2010 Jul 3.

6.

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.

Brown JA, Min J, Staropoli JF, Collin E, Bi S, Feng X, Barone R, Cao Y, O'Malley L, Xin W, Mullen TE, Sims KB.

Amyotroph Lateral Scler. 2012 Feb;13(2):217-22. doi: 10.3109/17482968.2011.643899.

PMID:
22292843
7.

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis.

Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, Manavis J, Blumbergs PC, Vucic S, Kiernan MC, Nicholson GA.

J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):639-45. doi: 10.1136/jnnp.2009.194399. Epub 2009 Dec 3.

PMID:
19965854
8.

Aberrant localization of FUS and TDP43 is associated with misfolding of SOD1 in amyotrophic lateral sclerosis.

Pokrishevsky E, Grad LI, Yousefi M, Wang J, Mackenzie IR, Cashman NR.

PLoS One. 2012;7(4):e35050. doi: 10.1371/journal.pone.0035050. Epub 2012 Apr 6.

9.

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.

Hübers A, Just W, Rosenbohm A, Müller K, Marroquin N, Goebel I, Högel J, Thiele H, Altmüller J, Nürnberg P, Weishaupt JH, Kubisch C, Ludolph AC, Volk AE.

Neurobiol Aging. 2015 Nov;36(11):3117.e1-6. doi: 10.1016/j.neurobiolaging.2015.08.005. Epub 2015 Aug 15.

PMID:
26362943
10.

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V.

J Med Genet. 2010 Aug;47(8):554-60. doi: 10.1136/jmg.2010.077180. Epub 2010 Jun 24.

11.

Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.

Sabatelli M, Moncada A, Conte A, Lattante S, Marangi G, Luigetti M, Lucchini M, Mirabella M, Romano A, Del Grande A, Bisogni G, Doronzio PN, Rossini PM, Zollino M.

Hum Mol Genet. 2013 Dec 1;22(23):4748-55. doi: 10.1093/hmg/ddt328. Epub 2013 Jul 11.

PMID:
23847048
12.

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.

Calvo A, Moglia C, Canosa A, Brunetti M, Barberis M, Traynor BJ, Carrara G, Valentini C, Restagno G, Chiò A.

Neurobiol Aging. 2014 Jun;35(6):1513.e7-11. doi: 10.1016/j.neurobiolaging.2013.12.028. Epub 2013 Dec 27.

13.

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
14.

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
15.

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
16.

De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis.

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

Neurobiol Aging. 2015 Mar;36(3):1604.e17-9. doi: 10.1016/j.neurobiolaging.2014.10.002. Epub 2014 Oct 13.

PMID:
25457557
17.

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.

18.

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population.

Vrabec K, Koritnik B, Leonardis L, Dolenc-Grošelj L, Zidar J, Smith B, Vance C, Shaw C, Rogelj B, Glavač D, Ravnik-Glavač M.

Neurobiol Aging. 2015 Mar;36(3):1601.e17-20. doi: 10.1016/j.neurobiolaging.2014.11.011. Epub 2014 Dec 18.

PMID:
25585530
19.

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
20.

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

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