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Results: 1 to 20 of 128

Similar articles for PubMed (Select 19847927)

1.

A mutation that creates a pseudoexon in SOD1 causes familial ALS.

Valdmanis PN, Belzil VV, Lee J, Dion PA, St-Onge J, Hince P, Funalot B, Couratier P, Clavelou P, Camu W, Rouleau GA.

Ann Hum Genet. 2009 Nov;73(Pt 6):652-7. No abstract available.

PMID:
19847927
2.

[Identification of the mutation of SOD1 gene in a familial amyotrophic lateral sclerosis].

Shi SG, Li LS, Chen KN, Liu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):149-52. Chinese.

PMID:
15079798
3.

Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).

Orrell RW, Marklund SL, deBelleroche JS.

J Neurol Sci. 1997 Dec 9;153(1):46-9.

PMID:
9455977
4.

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.

Andersen PM, Nilsson P, Ala-Hurula V, Keränen ML, Tarvainen I, Haltia T, Nilsson L, Binzer M, Forsgren L, Marklund SL.

Nat Genet. 1995 May;10(1):61-6.

PMID:
7647793
5.

SOD1 missense mutation in an Italian family with ALS.

Rainero I, Pinessi L, Tsuda T, Vignocchi MG, Vaula G, Calvi L, Cerrato P, Rossi B, Bergamini L, McLachlan DR, et al.

Neurology. 1994 Feb;44(2):347-9.

PMID:
8309590
6.

A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.

Morita M, Aoki M, Abe K, Hasegawa T, Sakuma R, Onodera Y, Ichikawa N, Nishizawa M, Itoyama Y.

Neurosci Lett. 1996 Feb 23;205(2):79-82.

PMID:
8907321
7.

A SOD1 gene mutation in a patient with slowly progressing familial ALS.

Penco S, Schenone A, Bordo D, Bolognesi M, Abbruzzese M, Bugiani O, Ajmar F, Garrè C.

Neurology. 1999 Jul 22;53(2):404-6. Erratum in: Neurology 2001 Sep 25;57(6):1146.

PMID:
10430435
8.

A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis.

Kohno S, Takahashi Y, Miyajima H, Serizawa M, Mizoguchi K.

Neurosci Lett. 1999 Dec 3;276(2):135-7.

PMID:
10624810
9.

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
10.

A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis.

Ikeda M, Abe K, Aoki M, Ogasawara M, Kameya T, Watanabe M, Shoji M, Hirai S, Itoyama Y.

Hum Mol Genet. 1995 Mar;4(3):491-2. No abstract available.

PMID:
7795609
11.

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.

Deng HX, Tainer JA, Mitsumoto H, Ohnishi A, He X, Hung WY, Zhao Y, Juneja T, Hentati A, Siddique T.

Hum Mol Genet. 1995 Jun;4(6):1113-6. No abstract available.

PMID:
7655471
12.

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4.

Yulug IG, Katsanis N, de Belleroche J, Collinge J, Fisher EM.

Hum Mol Genet. 1995 Jun;4(6):1101-4. No abstract available. Erratum in: Hum Mol Genet 1995 Aug;4(8):1474.

PMID:
7655468
13.

Sequence of the superoxide dismutase 1 (SOD 1) gene in familial Parkinson's disease.

Bandmann O, Davis MB, Marsden CD, Harding AE.

J Neurol Neurosurg Psychiatry. 1995 Jul;59(1):90-1.

14.

Mutations in all five exons of SOD-1 may cause ALS.

Shaw CE, Enayat ZE, Chioza BA, Al-Chalabi A, Radunovic A, Powell JF, Leigh PN.

Ann Neurol. 1998 Mar;43(3):390-4.

PMID:
9506558
15.
16.

A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy.

Rezania K, Yan J, Dellefave L, Deng HX, Siddique N, Pascuzzi RT, Siddique T, Roos RP.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):162-6.

PMID:
13129803
17.

A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis.

Hayward C, Swingler RJ, Simpson SA, Brock DJ.

Am J Hum Genet. 1996 Nov;59(5):1165-7. No abstract available.

18.

Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.

Niemann S, Joos H, Meyer T, Vielhaber S, Reuner U, Gleichmann M, Dengler R, Müller U.

J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1186-8.

19.
20.

N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation.

Mayeux V, Corcia P, Besson G, Jafari-Schluep HF, Briolotti V, Camu W.

Ann Neurol. 2003 Jun;53(6):815-8.

PMID:
12783432
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