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Results: 1 to 20 of 269

1.

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.

Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, Schoenfeld DA, Hosler BA, Horvitz HR, Brown RH.

Ann Neurol. 1997 Feb;41(2):210-21.

PMID:
9029070
[PubMed - indexed for MEDLINE]
2.

A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.

Rosen DR, Bowling AC, Patterson D, Usdin TB, Sapp P, Mezey E, McKenna-Yasek D, O'Regan J, Rahmani Z, Ferrante RJ, et al.

Hum Mol Genet. 1994 Jun;3(6):981-7.

PMID:
7951249
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase.

Juneja T, Pericak-Vance MA, Laing NG, Dave S, Siddique T.

Neurology. 1997 Jan;48(1):55-7.

PMID:
9008494
[PubMed - indexed for MEDLINE]
5.

The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis.

Régal L, Vanopdenbosch L, Tilkin P, Van den Bosch L, Thijs V, Sciot R, Robberecht W.

Arch Neurol. 2006 Feb;63(2):262-7. Erratum in: Arch Neurol. 2006 Jul;63(7):963.

PMID:
16476815
[PubMed - indexed for MEDLINE]
6.

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

Andersen PM, Sims KB, Xin WW, Kiely R, O'Neill G, Ravits J, Pioro E, Harati Y, Brower RD, Levine JS, Heinicke HU, Seltzer W, Boss M, Brown RH Jr.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Jun;4(2):62-73.

PMID:
14506936
[PubMed - indexed for MEDLINE]
7.

Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations.

Orrell RW.

Neuromuscul Disord. 2000 Jan;10(1):63-8. Review.

PMID:
10677867
[PubMed - indexed for MEDLINE]
8.

Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene.

Cudkowicz ME, McKenna-Yasek D, Chen C, Hedley-Whyte ET, Brown RH Jr.

Ann Neurol. 1998 Jun;43(6):703-10.

PMID:
9629839
[PubMed - indexed for MEDLINE]
9.

Familial amyotrophic lateral sclerosis with a novel Leu126Ser mutation in the copper/zinc superoxide dismutase gene showing mild clinical features and lewy body-like hyaline inclusions.

Takehisa Y, Ujike H, Ishizu H, Terada S, Haraguchi T, Tanaka Y, Nishinaka T, Nobukuni K, Ihara Y, Namba R, Yasuda T, Nishibori M, Hayabara T, Kuroda S.

Arch Neurol. 2001 May;58(5):736-40.

PMID:
11346368
[PubMed - indexed for MEDLINE]
10.

Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis.

Gestri D, Cecchi C, Tedde A, Latorraca S, Orlacchio A, Grassi E, Massaro AM, Liguri G, St George-Hyslop PH, Sorbi S.

Neurosci Lett. 2000 Aug 11;289(3):157-60.

PMID:
10961653
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

Clinical characteristics of SOD1 gene mutations in UK families with ALS.

Orrell RW, Habgood JJ, Malaspina A, Mitchell J, Greenwood J, Lane RJ, deBelleroche JS.

J Neurol Sci. 1999 Oct 31;169(1-2):56-60.

PMID:
10540008
[PubMed - indexed for MEDLINE]
13.

Neuroprotective effects of copper/zinc-dependent superoxide dismutase against a wide variety of death-inducing stimuli and proapoptotic effect of familial amyotrophic lateral sclerosis mutations.

Patel Y, Collaco Moraes Y, Latchman D, Coffin R, de Belleroche J.

Brain Res Mol Brain Res. 2002 Dec 30;109(1-2):189-97.

PMID:
12531528
[PubMed - indexed for MEDLINE]
14.

Japanese familial amyotrophic lateral sclerosis family with a two-base deletion in the superoxide dismutase-1 gene.

Watanabe Y, Adachi Y, Nakashima K.

Neuropathology. 2001 Mar;21(1):61-6.

PMID:
11304044
[PubMed - indexed for MEDLINE]
15.

Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.

Sapp PC, Rosen DR, Hosler BA, Esteban J, McKenna-Yasek D, O'Regan JP, Horvitz HR, Brown RH Jr.

Neuromuscul Disord. 1995 Sep;5(5):353-7.

PMID:
7496169
[PubMed - indexed for MEDLINE]
16.

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis.

Robberecht W, Aguirre T, Van den Bosch L, Tilkin P, Cassiman JJ, Matthijs G.

Neurology. 1996 Nov;47(5):1336-9.

PMID:
8909456
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Cu/Zn superoxide dismutase (SOD1) mutations associated with familial amyotrophic lateral sclerosis (ALS) affect cellular free radical release in the presence of oxidative stress.

Cookson MR, Menzies FM, Manning P, Eggett CJ, Figlewicz DA, McNeil CJ, Shaw PJ.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Jun;3(2):75-85.

PMID:
12215229
[PubMed - indexed for MEDLINE]
19.

Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene.

Giess R, Holtmann B, Braga M, Grimm T, Müller-Myhsok B, Toyka KV, Sendtner M.

Am J Hum Genet. 2002 May;70(5):1277-86. Epub 2002 Apr 9.

PMID:
11951178
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.

Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M, Mariotti C.

Neuromuscul Disord. 2001 May;11(4):404-10.

PMID:
11369193
[PubMed - indexed for MEDLINE]

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