The DOI matches its Crossref record; 26 of the 27 references it cites were found in a registry or an index.
Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23
Open accessAbstract
Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease, affecting approximately 1 percent of the population over age 50. Recent studies have confirmed significant familial aggregation of PD and a large number of large multicase families have been documented. Genetic markers on chromosome 4q21-q23 were found to be linked to the PD phenotype in a large kindred with autosomal dominant PD, with a Zmax = 6.00 for marker D4S2380. This finding will facilitate identification of the gene and research on the pathogenesis of PD.
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“In a high-risk population with a prevalence of 2%, the 1805 variant PRS explained a maximum 36% of PD heritable risk (2,31) (Table S4).”
From Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) · cites this paper as [2]
In the citing paper
“Using equations from Wray et al. 2010 and our current heritability estimates, the 88 variant PRS explained a minimum 16% of the genetic liability of PD assuming a global prevalence of 0.5% (2,31).”
From Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) · cites this paper as [2]
In the citing paper
“Using LDSC on a meta-analysis of all 11 clinically-ascertained datasets from our GWAS and estimated the liability-scale heritability of PD as 0.22 (95% CI 0.18 – 0.26), only slightly lower than a previous estimate derived using GCTA (0.27, 95% CI 0.17 – 0.38) (2,16,30).”
From Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) · cites this paper as [2]
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Flagged first, then by citations
1 of the 27 references couldn’t be matched to a known paper.
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Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
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Metadata
- Authors
- Polymeropoulos, M. H., Higgins, J. J., Golbe, L. I., Johnson, W. G., Ide, S. E., Di Iorio, G., Sanges, G., Stenroos, E. S., Pho, L. T., Schaffer, A. A., Lazzarini, A. M., Nussbaum, R. L., & Duvoisin, R. C.
- Affiliations
- National Institutes of Health (US)
- University of Medicine and Dentistry of New Jersey (US)
- G. Di Iorio and G. Sanges, Istituto di Scienze Neurologiche, Facoltá di Medicina, Seconda Universitá degli Studi di Napoli, Naples, Italy.
- University of Campania "Luigi Vanvitelli" (IT)
- M. H. Polymeropoulos, S. E. Ide, A. A. Schaffer, R. L. Nussbaum, Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892-1430, USA.
- Venue
- Science
- Published
- 1996-11-15
- Volume
- 274
- Issue
- 5290
- Pages
- 1197-1199
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1999893655
- Cited by
- 788
- References
- 27
- Citations by year
- 2026: 9 · 2025: 29 · 2024: 21 · 2023: 27 · 2022: 26 · 2021: 18 · 2020: 41 · 2019: 20 · 2018: 21 · 2017: 26 · 2016: 18 · 2015: 23 · 2014: 27 · 2013: 23 · 2012: 17
- FWCI
- 38.08
- Type
- journal article
- Language
- en
- Open access
- green
- zenodo.org
- Licence
- public-domain
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Zenodo (CERN European Organization for Nuclear Research) (submittedVersion, public-domain)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Clinical Neurology › Deep Brain Stimulation and Movement Disorders
- Keywords
- Parkinson's disease, genetic linkage, autosomal dominant inheritance, familial aggregation, gene mapping, neurodegenerative diseases
- MeSH terms
- Chromosome Mapping, Chromosomes, Human, Pair 4, Female, Genetic Markers, Humans, Genetic Linkage, Lod Score, Male, Parkinson Disease, Pedigree, Phenotype
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