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Items: 1 to 20 of 87

1.

Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement.

Mochizuki Y, Isozaki E, Takao M, Hashimoto T, Shibuya M, Arai M, Hosokawa M, Kawata A, Oyanagi K, Mihara B, Mizutani T.

J Neurol Sci. 2012 Dec 15;323(1-2):85-92. doi: 10.1016/j.jns.2012.08.016. Epub 2012 Sep 11.

PMID:
22980027
2.

A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state.

Mochizuki Y, Kawata A, Maruyama H, Homma T, Watabe K, Kawakami H, Komori T, Mizutani T, Matsubara S.

Neuropathology. 2014 Oct;34(5):504-9. doi: 10.1111/neup.12130. Epub 2014 May 19.

PMID:
24841222
3.

Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation.

Tateishi T, Hokonohara T, Yamasaki R, Miura S, Kikuchi H, Iwaki A, Tashiro H, Furuya H, Nagara Y, Ohyagi Y, Nukina N, Iwaki T, Fukumaki Y, Kira J.

Acta Neuropathol. 2010 Mar;119(3):355-64. doi: 10.1007/s00401-009-0621-1. Epub 2009 Dec 5.

PMID:
19967541
4.

Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family.

Tsuchiya K, Shintani S, Nakabayashi H, Kikugawa K, Nakano R, Haga C, Nakano I, Ikeda K, Tsuji S.

Acta Neuropathol. 2000 Dec;100(6):603-7.

PMID:
11078211
5.

An autopsied case of sporadic adult-onset amyotrophic lateral sclerosis with FUS-positive basophilic inclusions.

Matsuoka T, Fujii N, Kondo A, Iwaki A, Hokonohara T, Honda H, Sasaki K, Suzuki SO, Iwaki T.

Neuropathology. 2011 Feb;31(1):71-6. doi: 10.1111/j.1440-1789.2010.01129.x.

PMID:
20573033
6.

FUS/TLS-immunoreactive neuronal and glial cell inclusions increase with disease duration in familial amyotrophic lateral sclerosis with an R521C FUS/TLS mutation.

Suzuki N, Kato S, Kato M, Warita H, Mizuno H, Kato M, Shimakura N, Akiyama H, Kobayashi Z, Konno H, Aoki M.

J Neuropathol Exp Neurol. 2012 Sep;71(9):779-88. doi: 10.1097/NEN.0b013e318264f164. Erratum in: J Neuropathol Exp Neurol. 2015 Sep;74(9):945.

PMID:
22878663
7.

Occurrence of basophilic inclusions and FUS-immunoreactive neuronal and glial inclusions in a case of familial amyotrophic lateral sclerosis.

Kobayashi Z, Tsuchiya K, Arai T, Aoki M, Hasegawa M, Ishizu H, Akiyama H, Mizusawa H.

J Neurol Sci. 2010 Jun 15;293(1-2):6-11. doi: 10.1016/j.jns.2010.03.029. Epub 2010 Apr 20.

PMID:
20409561
8.

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.

Mackenzie IR, Ansorge O, Strong M, Bilbao J, Zinman L, Ang LC, Baker M, Stewart H, Eisen A, Rademakers R, Neumann M.

Acta Neuropathol. 2011 Jul;122(1):87-98. doi: 10.1007/s00401-011-0838-7. Epub 2011 May 21.

9.

A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report.

Yamamoto-Watanabe Y, Watanabe M, Okamoto K, Fujita Y, Jackson M, Ikeda M, Nakazato Y, Ikeda Y, Matsubara E, Kawarabayashi T, Shoji M.

J Neurol Sci. 2010 Sep 15;296(1-2):59-63. doi: 10.1016/j.jns.2010.06.008.

PMID:
20621307
10.

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.

Farg MA, Soo KY, Warraich ST, Sundaramoorthy V, Blair IP, Atkin JD.

Hum Mol Genet. 2013 Feb 15;22(4):717-28. doi: 10.1093/hmg/dds479. Epub 2012 Nov 19.

PMID:
23172909
11.

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE.

Science. 2009 Feb 27;323(5918):1208-1211. doi: 10.1126/science.1165942.

12.
13.

A clinical and pathological study of a Japanese case of Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex with family history.

Konagaya M, Kato T, Sakai M, Kuru S, Matsuoka Y, Konagaya Y, Hashizume Y, Tabira T.

J Neurol. 2003 Feb;250(2):164-70.

PMID:
12574946
14.

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.

King A, Troakes C, Smith B, Nolan M, Curran O, Vance C, Shaw CE, Al-Sarraj S.

Acta Neuropathol Commun. 2015 Oct 9;3:62. doi: 10.1186/s40478-015-0235-x.

15.

[A 49-year-old man with progressive bulbar palsy and respiratory failure].

Motoi Y, Satoh K, Matsumine H, Wakiya M, Mori H, Shirai T, Kondo T, Mizuno Y.

No To Shinkei. 1998 Jan;50(1):93-100. Japanese.

PMID:
9493205
16.

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

Suzuki N, Aoki M, Warita H, Kato M, Mizuno H, Shimakura N, Akiyama T, Furuya H, Hokonohara T, Iwaki A, Togashi S, Konno H, Itoyama Y.

J Hum Genet. 2010 Apr;55(4):252-4. doi: 10.1038/jhg.2010.16. Epub 2010 Mar 12. Erratum in: J Hum Genet. 2015 Oct;60(10):653-4.

PMID:
20224596
17.

Stepwise acquirement of hallmark neuropathology in FUS-ALS iPSC models depends on mutation type and neuronal aging.

Japtok J, Lojewski X, Naumann M, Klingenstein M, Reinhardt P, Sterneckert J, Putz S, Demestre M, Boeckers TM, Ludolph AC, Liebau S, Storch A, Hermann A.

Neurobiol Dis. 2015 Oct;82:420-429. doi: 10.1016/j.nbd.2015.07.017. Epub 2015 Aug 4.

PMID:
26253605
18.

[Clinical and pathological characteristics of FUS/TLS-associated amyotrophic lateral sclerosis (ALS)].

Murayama S.

Rinsho Shinkeigaku. 2010 Nov;50(11):948-50. Japanese.

PMID:
21921522
19.

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.

Broustal O, Camuzat A, Guillot-Noël L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I, Brice A; French clinical and genetic research network on FTD/FTD-MND.

J Alzheimers Dis. 2010;22(3):765-9.

PMID:
21158017

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