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Items: 1 to 20 of 151

1.

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.

Broom WJ, Greenway M, Sadri-Vakili G, Russ C, Auwarter KE, Glajch KE, Dupre N, Swingler RJ, Purcell S, Hayward C, Sapp PC, McKenna-Yasek D, Valdmanis PN, Bouchard JP, Meininger V, Hosler BA, Glass JD, Polack M, Rouleau GA, Cha JH, Hardiman O, Brown RH Jr.

Amyotroph Lateral Scler. 2008 Aug;9(4):229-37. doi: 10.1080/17482960802103107.

PMID:
18608091
2.

Effect of the 50 bp deletion polymorphism in the SOD1 promoter on SOD1 mRNA levels in Italian ALS patients.

Milani P, Gagliardi S, Bongioanni P, Grieco GS, Dezza M, Bianchi M, Cova E, Ceroni M, Cereda C.

J Neurol Sci. 2012 Feb 15;313(1-2):75-8. doi: 10.1016/j.jns.2011.09.026. Epub 2011 Oct 18.

PMID:
22005552
3.

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
4.

An analysis of the entire SOD1 gene in sporadic ALS.

Luquin N, Yu B, Trent RJ, Morahan JM, Pamphlett R.

Neuromuscul Disord. 2008 Jul;18(7):545-52. doi: 10.1016/j.nmd.2008.04.013. Epub 2008 May 27.

PMID:
18504130
5.

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
6.

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
7.

Identification of a novel D109Y mutation in Cu/Zn superoxide dismutase (sod1) gene associated with amyotrophic lateral sclerosis.

Naini A, Mehrazin M, Lu J, Gordon P, Mitsumoto H.

J Neurol Sci. 2007 Mar 15;254(1-2):17-21. Epub 2007 Jan 25.

PMID:
17257622
8.
9.

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
10.

Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis.

van Es MA, Dahlberg C, Birve A, Veldink JH, van den Berg LH, Andersen PM.

J Neurol Neurosurg Psychiatry. 2010 May;81(5):562-6. doi: 10.1136/jnnp.2009.181453. Epub 2009 Dec 3.

PMID:
19965850
11.

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.

Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A.

Amyotroph Lateral Scler. 2009 Feb;10(1):58-60. doi: 10.1080/17482960802163853.

PMID:
18608106
12.

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
13.

Abnormality of Cu/Zn superoxide dismutase (SOD1) activity in Japanese familial amyotrophic lateral sclerosis with two base pair deletion in the SOD1 gene.

Nakashima K, Watanabe Y, Kuno N, Nanba E, Takahashi K.

Neurology. 1995 May;45(5):1019-20. No abstract available.

PMID:
7746377
14.

Lack of evidence of monomer/misfolded superoxide dismutase-1 in sporadic amyotrophic lateral sclerosis.

Liu HN, Sanelli T, Horne P, Pioro EP, Strong MJ, Rogaeva E, Bilbao J, Zinman L, Robertson J.

Ann Neurol. 2009 Jul;66(1):75-80. doi: 10.1002/ana.21704.

PMID:
19670443
15.

Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis.

Coppedè F, Mancuso M, Lo Gerfo A, Carlesi C, Piazza S, Rocchi A, Petrozzi L, Nesti C, Micheli D, Bacci A, Migliore L, Murri L, Siciliano G.

Neurosci Lett. 2007 Jun 13;420(2):163-8. Epub 2007 May 5.

PMID:
17531381
16.

Red blood cell Cu/Zn superoxide dismutase activity in sporadic amyotrophic lateral sclerosis.

Puymirat J, Cossette L, Gosselin F, Bouchard JP.

J Neurol Sci. 1994 Dec 1;127(1):121-3.

PMID:
7699387
17.

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
18.

A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS.

Segovia-Silvestre T, Andreu AL, Vives-Bauza C, Garcia-Arumi E, Cervera C, Gamez J.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Jun;3(2):69-74.

PMID:
12215228
19.

Red cell superoxide dismutase activity in sporadic amyotrophic lateral sclerosis.

Tuncel D, Aydin N, Aribal Kocatürk P, Ozelçi Kavas G, Sarikaya S.

J Clin Neurosci. 2006 Dec;13(10):991-4. Epub 2006 Oct 30.

PMID:
17071091
20.

The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.

Restagno G, Gomez A, Lombardo F, Cocco E, Calvo A, Ghiglione P, Mutani R, Chiò A.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Mar;6(1):45-9.

PMID:
16036425
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