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Items: 1 to 20 of 174

1.

SOD1A4V-mediated ALS: absence of a closely linked modifier gene and origination in Asia.

Broom WJ, Johnson DV, Auwarter KE, Iafrate AJ, Russ C, Al-Chalabi A, Sapp PC, McKenna-Yasek D, Andersen PM, Brown RH Jr.

Neurosci Lett. 2008 Jan 17;430(3):241-5. Epub 2007 Nov 6.

PMID:
18055113
2.

Age and founder effect of SOD1 A4V mutation causing ALS.

Saeed M, Yang Y, Deng HX, Hung WY, Siddique N, Dellefave L, Gellera C, Andersen PM, Siddique T.

Neurology. 2009 May 12;72(19):1634-9. doi: 10.1212/01.wnl.0000343509.76828.2a. Epub 2009 Jan 28.

3.

Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes.

Broom WJ, Russ C, Sapp PC, McKenna-Yasek D, Hosler BA, Andersen PM, Brown RH Jr.

Neurosci Lett. 2006 Jan 9;392(1-2):52-7. Epub 2005 Sep 19. Erratum in: Neurosci Lett. 2006 May 22;399(3):273.

PMID:
16174551
4.

SOD1 A4V familial ALS in North America: can understanding the past lead to a better future?

Armon C.

Neurology. 2009 May 12;72(19):1628-9. doi: 10.1212/01.wnl.0000344651.66120.ea. Epub 2009 Jan 28. No abstract available.

PMID:
19176894
5.

DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS.

Broom WJ, Johnson DV, Garber M, Andersen PM, Lennon N, Landers J, Nusbaum C, Russ C, Brown RH Jr.

Neurosci Lett. 2009 Sep 29;463(1):64-9. doi: 10.1016/j.neulet.2009.07.010. Epub 2009 Jul 9.

PMID:
19596401
6.

D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.

Parton MJ, Broom W, Andersen PM, Al-Chalabi A, Nigel Leigh P, Powell JF, Shaw CE; D90A SOD1 ALS Consortium.

Hum Mutat. 2002 Dec;20(6):473.

PMID:
12442272
7.

Prevalence of SOD1 mutations in the Italian ALS population.

Chiò A, Traynor BJ, Lombardo F, Fimognari M, Calvo A, Ghiglione P, Mutani R, Restagno G.

Neurology. 2008 Feb 12;70(7):533-7. doi: 10.1212/01.wnl.0000299187.90432.3f.

PMID:
18268245
8.

A shared chromosome-21 haplotype among amyotrophic lateral sclerosis families with the A4V SOD1 mutation.

Rosen DR.

Clin Genet. 2004 Sep;66(3):247-50. No abstract available.

PMID:
15324326
9.

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?

Gamez J, Corbera-Bellalta M, Nogales G, Raguer N, García-Arumí E, Badia-Canto M, Lladó-Carbó E, Alvarez-Sabín J.

J Neurol Sci. 2006 Aug 15;247(1):21-8. Epub 2006 May 3.

PMID:
16674979
10.

Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.

Alavi A, Nafissi S, Rohani M, Zamani B, Sedighi B, Shamshiri H, Fan JB, Ronaghi M, Elahi E.

Neurobiol Aging. 2013 May;34(5):1516.e1-8. doi: 10.1016/j.neurobiolaging.2012.09.006. Epub 2012 Oct 9.

PMID:
23062701
11.

Defining SOD1 ALS natural history to guide therapeutic clinical trial design.

Bali T, Self W, Liu J, Siddique T, Wang LH, Bird TD, Ratti E, Atassi N, Boylan KB, Glass JD, Maragakis NJ, Caress JB, McCluskey LF, Appel SH, Wymer JP, Gibson S, Zinman L, Mozaffar T, Callaghan B, McVey AL, Jockel-Balsarotti J, Allred P, Fisher ER, Lopate G, Pestronk A, Cudkowicz ME, Miller TM.

J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):99-105. doi: 10.1136/jnnp-2016-313521. Epub 2016 Jun 3.

12.

G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype.

Battistini S, Ricci C, Giannini F, Calzavara S, Greco G, Del Corona A, Mancuso M, Battistini N, Siciliano G, Carrera P.

Amyotroph Lateral Scler. 2010;11(1-2):210-5. doi: 10.3109/17482960902995592.

PMID:
19488901
13.

Clinical features and Cu/Zn superoxide dismutase gene mutations in two mainland Chinese families with amyotrophic lateral sclerosis.

Zhao G, Yin X, Wu D, Mao S, Yin H, Zhang B.

Int J Neurosci. 2011 Apr;121(4):191-5. doi: 10.3109/00207454.2010.542841.

PMID:
21329474
14.

ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.

Masè G, Ros S, Gemma A, Bonfigli L, Carraro N, Cazzato G, Rolfo M, Zanconati F, Sepcic J, Jurjevic A, Pirulli D, Boniotto M, Zezlina S, Crovella S, Amoroso A.

J Neurol Sci. 2001 Oct 15;191(1-2):11-8.

PMID:
11676987
15.

The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree.

Syriani E, Morales M, Gamez J.

J Neurol Sci. 2009 Oct 15;285(1-2):46-53. doi: 10.1016/j.jns.2009.05.011. Epub 2009 Jun 13.

PMID:
19524271
16.

No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS.

Broom WJ, Parton MJ, Vance CA, Russ C, Andersen PM, Hansen V, Leigh PN, Powell JF, Al-Chalabi A, Shaw CE.

Neurology. 2004 Dec 28;63(12):2419-22.

PMID:
15623718
17.

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.

Berdyński M, Kuźma-Kozakiewicz M, Ricci C, Kubiszewska J, Millecamps S, Salachas F, Łusakowska A, Carrera P, Meininger V, Battistini S, Kwieciński H, Zekanowski C.

Amyotroph Lateral Scler. 2012 Jan;13(1):132-6. doi: 10.3109/17482968.2011.600316. Epub 2011 Aug 30. Erratum in: Amyotroph Lateral Scler. 2012 Jun;13(4):405.

PMID:
21877919
18.

Polyanion binding accelerates the formation of stable and low-toxic aggregates of ALS-linked SOD1 mutant A4V.

Zhao D, Zhang S, Meng Y, Xiongwei D, Zhang D, Liang Y, Wang L, Liu C.

Proteins. 2014 Dec;82(12):3356-72. doi: 10.1002/prot.24691. Epub 2014 Oct 1.

PMID:
25220364
19.

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion.

Zinman L, Liu HN, Sato C, Wakutani Y, Marvelle AF, Moreno D, Morrison KE, Mohlke KL, Bilbao J, Robertson J, Rogaeva E.

Neurology. 2009 Mar 31;72(13):1153-9. doi: 10.1212/01.wnl.0000345363.65799.35.

20.

Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis.

Kuźma-Kozakiewicz M, Berdyński M, Morita M, Takahashi Y, Kawata A, Kaida K, Kaźmierczak B, Lusakowska A, Goto J, Tsuji S, Zekanowski C, Kwieciński H.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):608-14. doi: 10.3109/21678421.2013.812119. Epub 2013 Jul 30.

PMID:
23898858

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