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Items: 1 to 20 of 157

1.

Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population.

Naruse H, Takahashi Y, Kihira T, Yoshida S, Kokubo Y, Kuzuhara S, Ishiura H, Amagasa M, Murayama S, Tsuji S, Goto J.

Amyotroph Lateral Scler. 2012 Oct;13(6):562-6. doi: 10.3109/17482968.2012.684213. Epub 2012 Jun 18.

PMID:
22708870
2.

Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population.

Sugihara K, Maruyama H, Kamada M, Morino H, Kawakami H.

Neurobiol Aging. 2011 Oct;32(10):1923.e9-10. doi: 10.1016/j.neurobiolaging.2011.03.024. Epub 2011 May 6.

PMID:
21550138
3.

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis.

Belzil VV, Daoud H, Desjarlais A, Bouchard JP, Dupré N, Camu W, Dion PA, Rouleau GA.

Neurobiol Aging. 2011 Mar;32(3):555.e13-4. doi: 10.1016/j.neurobiolaging.2010.10.001. Epub 2010 Nov 11.

PMID:
21074290
4.

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis.

Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Ticozzi N, Corti S, Castellotti B, Mazzini L, Sorarù G, Cereda C, D'Alfonso S, Gellera C, Comi GP, Silani V; SLAGEN Consortium.

J Neurol Neurosurg Psychiatry. 2011 Nov;82(11):1239-43. doi: 10.1136/jnnp.2011.242313. Epub 2011 May 25.

PMID:
21613650
5.

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients.

van Blitterswijk M, van Vught PW, van Es MA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.

Neurobiol Aging. 2012 May;33(5):1016.e1-7. doi: 10.1016/j.neurobiolaging.2011.05.019. Epub 2011 Jul 28.

PMID:
21802176
6.

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese.

Iida A, Hosono N, Sano M, Kamei T, Oshima S, Tokuda T, Nakajima M, Kubo M, Nakamura Y, Ikegawa S.

Neurobiol Aging. 2012 Aug;33(8):1843.e19-24. doi: 10.1016/j.neurobiolaging.2011.12.037. Epub 2012 Mar 7.

PMID:
22402017
7.

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
8.

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
9.

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients.

Johnson L, Miller JW, Gkazi AS, Vance C, Topp SD, Newhouse SJ, Al-Chalabi A, Smith BN, Shaw CE.

Neurobiol Aging. 2012 Dec;33(12):2948.e15-7. doi: 10.1016/j.neurobiolaging.2012.06.023. Epub 2012 Aug 11.

PMID:
22892313
10.

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

Zou ZY, Peng Y, Wang XN, Liu MS, Li XG, Cui LY.

Neurobiol Aging. 2012 Sep;33(9):2229.e11-2229.e18. doi: 10.1016/j.neurobiolaging.2012.03.014. Epub 2012 May 9.

PMID:
22575358
11.

Screening of OPTN in French familial amyotrophic lateral sclerosis.

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

Neurobiol Aging. 2011 Mar;32(3):557.e11-3. doi: 10.1016/j.neurobiolaging.2010.11.005. Epub 2011 Jan 8.

PMID:
21220178
12.

Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS.

Tümer Z, Bertelsen B, Gredal O, Magyari M, Nielsen KC, Lucamp, Grønskov K, Brøndum-Nielsen K.

Neurobiol Aging. 2012 Jan;33(1):208.e1-5. doi: 10.1016/j.neurobiolaging.2011.07.001. Epub 2011 Aug 26.

PMID:
21852022
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.

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany.

Weishaupt JH, Waibel S, Birve A, Volk AE, Mayer B, Meyer T, Ludolph AC, Andersen PM.

Neurobiol Aging. 2013 May;34(5):1516.e9-15. doi: 10.1016/j.neurobiolaging.2012.09.007. Epub 2012 Oct 10.

PMID:
23062601
15.

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.

Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, Causarano R, Casula M, Lando G, Patrosso MC, Caponnetto C, Origone P, Marocchi A, Del Corona A, Siciliano G, Carrera P, Mascia V, Giagheddu M, Carcassi C, Orrù S, Garrè C, Penco S.

J Neurol. 2005 Jul;252(7):782-8. Epub 2005 Mar 29.

PMID:
15789135
16.

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis.

Solski JA, Williams KL, Yang S, Nicholson GA, Blair IP.

Neurobiol Aging. 2012 Jan;33(1):210.e9-10. doi: 10.1016/j.neurobiolaging.2011.09.023. Epub 2011 Oct 19.

PMID:
22015311
17.

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
18.

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation.

Conte A, Lattante S, Luigetti M, Del Grande A, Romano A, Marcaccio A, Marangi G, Rossini PM, Neri G, Zollino M, Sabatelli M.

J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1201-3. doi: 10.1136/jnnp-2012-302897. Epub 2012 Jul 8.

PMID:
22773853
19.

Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.

Soong BW, Lin KP, Guo YC, Lin CC, Tsai PC, Liao YC, Lu YC, Wang SJ, Tsai CP, Lee YC.

Neurobiol Aging. 2014 Oct;35(10):2423.e1-6. doi: 10.1016/j.neurobiolaging.2014.05.008. Epub 2014 May 11.

PMID:
24908169
20.

VCP mutations in familial and sporadic amyotrophic lateral sclerosis.

Koppers M, van Blitterswijk MM, Vlam L, Rowicka PA, van Vught PW, Groen EJ, Spliet WG, Engelen-Lee J, Schelhaas HJ, de Visser M, van der Kooi AJ, van der Pol WL, Pasterkamp RJ, Veldink JH, van den Berg LH.

Neurobiol Aging. 2012 Apr;33(4):837.e7-13. doi: 10.1016/j.neurobiolaging.2011.10.006. Epub 2011 Nov 10.

PMID:
22078486
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