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Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
PMID: 8069312 [PubMed - indexed for MEDLINE]
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Cited by 6 PubMed Central articles
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Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
Silahtaroglu AN, Brondum-Nielsen K, Gredal O, Werdelin L, Panas M, Petersen MB, Tommerup N, Tümer Z.
BMC Genet. 2002 Apr 19; 3:5. Epub 2002 Apr 19.
[BMC Genet. 2002]
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ReviewCu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features.
Radunovíc A, Leigh PN.
J Neurol Neurosurg Psychiatry. 1996 Dec; 61(6):565-72.
[J Neurol Neurosurg Psychiatry. 1996]
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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.
[Am J Hum Genet. 1996]
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