Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others
- PMID: 8069312
- DOI: 10.1093/hmg/3.4.649
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others
Similar articles
-
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.J Med Genet. 1995 Apr;32(4):290-2. doi: 10.1136/jmg.32.4.290. J Med Genet. 1995. PMID: 7643359 Free PMC article.
-
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.Mol Cell Probes. 1994 Aug;8(4):329-30. doi: 10.1006/mcpr.1994.1046. Mol Cell Probes. 1994. PMID: 7870076
-
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.Hum Mol Genet. 1994 Jun;3(6):997-8. doi: 10.1093/hmg/3.6.997. Hum Mol Genet. 1994. PMID: 7951252 No abstract available.
-
Genotype-phenotype correlation in familial amyotrophic lateral sclerosis with SOD1 mutation.Funct Neurol. 2000 Jul-Sep;15(3):177-91. Funct Neurol. 2000. PMID: 11062847 Review. No abstract available.
-
Genetics of amyotrophic lateral sclerosis.J Neurol. 2000 Dec;247 Suppl 6:VI/2-6. doi: 10.1007/PL00007785. J Neurol. 2000. PMID: 19714405 Review.
Cited by
-
Preferential potentiation of AMPA-mediated currents in brainstem hypoglossal motoneurons by subchronic exposure of mice expressing the human superoxide dismutase 1 G93A gene mutation to neurotoxicant methylmercury in vivo.Neurotoxicology. 2024 Jan;100:72-84. doi: 10.1016/j.neuro.2023.12.002. Epub 2023 Dec 7. Neurotoxicology. 2024. PMID: 38065418
-
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.Biomolecules. 2023 Jul 19;13(7):1147. doi: 10.3390/biom13071147. Biomolecules. 2023. PMID: 37509182 Free PMC article.
-
Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease.bioRxiv [Preprint]. 2023 Mar 10:2023.03.10.531987. doi: 10.1101/2023.03.10.531987. bioRxiv. 2023. Update in: Science. 2023 Apr 28;380(6643):eabn2937. doi: 10.1126/science.abn2937. PMID: 36945512 Free PMC article. Updated. Preprint.
-
Advances in sequencing technologies for amyotrophic lateral sclerosis research.Mol Neurodegener. 2023 Jan 13;18(1):4. doi: 10.1186/s13024-022-00593-1. Mol Neurodegener. 2023. PMID: 36635726 Free PMC article. Review.
-
A fruitful endeavor: modeling ALS in the fruit fly.Brain Res. 2015 May 14;1607:47-74. doi: 10.1016/j.brainres.2014.09.064. Epub 2014 Oct 5. Brain Res. 2015. PMID: 25289585 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases
Miscellaneous