DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS
Section snippets
Acknowledgements
This study was supported by the National Institute for Neurological Disease and Stroke (RB, DM-Y), the Angel Fund (DJ, RB, WB, CR), the ALS Association (RB), Project ALS (RB), the Pierre L. de Bourgknecht ALS Research Foundation (RB) and the Al-Athel ALS Foundation (RB, WB). PMA is supported by the Swedish Brain Research Foundation, the Hållsten's Brain Research Foundation, the Björklund Foundation for ALS Research and the Swedish Association for the Neurologically Disabled. We also thank
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Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients
2013, Neurobiology of AgingCitation Excerpt :Heterozygous p.Asp90Ala causing mutations were observed in 7 asymptomatic individuals in these families who were aged between 24 and 85 years. Previous analyses by others had identified a haplotype spanning 250 K bp that was common to all recessive p.Asp90Ala alleles (Broom et al., 2009). Although most markers used to describe this minimal haplotype were microsatellites, 15 of the more recently used markers were SNPs.
Superoxide dismutase in amyotrophic lateral sclerosis patients homozygous for the D90A mutation
2009, Neurobiology of DiseaseCitation Excerpt :Such a mechanism was recently proposed to explain the reduced penetrance of a SOD1 deletion mutation (ΔG27/P28) (Zinman et al., 2009). Sequencing efforts have not provided any explanations for the different inheritance patterns of D90A pedigrees (Broom et al., 2006, 2009). The mechanism by which mutant SOD1s cause ALS is unknown, and the cause of the selective vulnerability of the motor areas of the CNS is also unknown.
Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort
2020, Neurology: GeneticsSOD1 mutations in amyotrophic lateral sclerosis
2013, European Neurological JournalRecurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family
2012, Amyotrophic Lateral Sclerosis
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