Genomes and Genes
S W Scholz
Affiliation: National Institutes of Health
- The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populationsSonja W Scholz
Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Building 35, Room 1A 1012, Bethesda, MD 20892, USA
Neurosci Lett 395:227-9. 2006..No association between genotypes in codon 129 and IPD was detected in three distinct populations, suggesting that this PRNP polymorphism has no direct influence on the susceptibility to IPD...
- Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and controlJ Brooks
Laboratory of Neurogenetics, National Institute on Aging, 35 Convent Drive, 20892 Bethesda, USA
J Med Genet 46:375-81. 2009..The possibility that heterozygous mutations in these genes also predispose to disease or lower the age of disease onset has been suggested, but currently there is insufficient data to verify this hypothesis conclusively...
- SNCA variants are associated with increased risk for multiple system atrophySonja W Scholz
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA
Ann Neurol 65:610-4. 2009..SNPs at the SNCA locus were significantly associated with risk for increased risk for the development of MSA (combined p = 5.5 x 10(-12); odds ratio 6.2) [corrected]...
- Genome-wide association study reveals genetic risk underlying Parkinson's diseaseJavier Simon-Sanchez
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 41:1308-12. 2009..14, P = 1.55 x 10(-5)). These data demonstrate an unequivocal role for common genetic variants in the etiology of typical PD and suggest population-specific genetic heterogeneity in this disease...
- Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of dataJennifer C Schymick
Laboratory of Neurogenetics, National Institute on Aging, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA
Lancet Neurol 6:322-8. 2007..We sought to identify genetic variants associated with an increased or decreased risk for developing ALS in a cohort of American sporadic cases...
- Genotype, haplotype and copy-number variation in worldwide human populationsMattias Jakobsson
Center for Computational Medicine and Biology, University of Michigan, Ann Arbor, Michigan 48109, USA
Nature 451:998-1003. 2008..Our results produce new inferences about inter-population variation, support the utility of CNVs in human population-genetic research, and serve as a genomic resource for human-genetic studies in diverse worldwide populations...