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Items: 1 to 20 of 111

1.

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G; JaCALS, Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S.

Am J Hum Genet. 2013 Nov 7;93(5):900-5. doi: 10.1016/j.ajhg.2013.09.008. Epub 2013 Oct 10.

2.

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.

Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE.

Nature. 2012 Aug 23;488(7412):499-503. doi: 10.1038/nature11280.

3.

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
4.

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
5.

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
6.

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.

Nat Genet. 2008 May;40(5):572-4. doi: 10.1038/ng.132. Epub 2008 Mar 30.

PMID:
18372902
7.

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.

Gellera C, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V.

Neurogenetics. 2008 Feb;9(1):33-40. Epub 2007 Dec 18.

PMID:
18087731
9.

Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis.

Xiong HL, Wang JY, Sun YM, Wu JJ, Chen Y, Qiao K, Zheng QJ, Zhao GX, Wu ZY.

BMC Med Genet. 2010 Jan 19;11:8. doi: 10.1186/1471-2350-11-8.

10.

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
11.

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J, Shaw PJ.

PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872.

12.

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, et al.

Nature. 1993 Mar 4;362(6415):59-62. Erratum in: Nature. 1993 Jul 22;364(6435):362.

PMID:
8446170
13.

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.

Williams KL, Durnall JC, Thoeng AD, Warraich ST, Nicholson GA, Blair IP.

J Neurol Neurosurg Psychiatry. 2009 Nov;80(11):1286-8. doi: 10.1136/jnnp.2008.163261.

PMID:
19864664
14.
15.

Genetic epidemiology of amyotrophic lateral sclerosis.

Majoor-Krakauer D, Willems PJ, Hofman A.

Clin Genet. 2003 Feb;63(2):83-101. Review.

PMID:
12630951
16.

Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation.

Aoki M, Abe K, Houi K, Ogasawara M, Matsubara Y, Kobayashi T, Mochio S, Narisawa K, Itoyama Y.

Ann Neurol. 1995 May;37(5):676-9.

PMID:
7755363
17.

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.

Conforti FL, Sprovieri T, Mazzei R, Ungaro C, La Bella V, Tessitore A, Patitucci A, Magariello A, Gabriele AL, Tedeschi G, Simone IL, Majorana G, Valentino P, Condino F, Bono F, Monsurrò MR, Muglia M, Quattrone A.

Neuromuscul Disord. 2008 Jan;18(1):68-70. Epub 2007 Aug 20.

PMID:
17703939
18.

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.

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

J Hum Genet. 2011 Mar;56(3):247-9. doi: 10.1038/jhg.2010.162. Epub 2010 Dec 16.

PMID:
21160488
19.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.

Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D, Bouchard JP, Awadalla P, Dupré N, Dion PA, Rouleau GA.

Neurobiol Aging. 2016 Jan;37:209.e17-209.e21. doi: 10.1016/j.neurobiolaging.2015.09.013. Epub 2015 Sep 28.

PMID:
26493020
20.

[Familial amyotrophic lateral sclerosis and mutations in the Cu/Zn superoxide dismutase gene].

Nakano R.

Rinsho Shinkeigaku. 1995 Dec;35(12):1546-8. Review. Japanese.

PMID:
8752459

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