ArticleJAMA neurology2016
Whole-Exome Sequencing in Familial Parkinson Disease.
Article in JAMA neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
45 citing papers in PubMed, 76 citations in OpenAlex.
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- Studying the mechanisms of neurodegeneration:Frontiers in cellular neuroscience · 2025Review
- Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.Nature genetics · 2024Article
- Article
- A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.Biomedicines · 2023Article
- Tenascin-R Autoimmunity: Isolated Tremor Reversed with Immunotherapy.Annals of neurology · 2023Article
- Back to the future through the wormhole: Caenorhabditis elegans as a preclinical model.Disease models & mechanisms · 2023Article
- Integrated regulation of dopaminergic and epigenetic effectors of neuroprotection in Parkinson's disease models.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- It's a TRIM-endous view from the top: the varied roles of TRIpartite Motif proteins in brain development and disease.Frontiers in molecular neuroscience · 2023Review
- Cryo-EM structures of amyloid-β 42 filaments from human brains.Science (New York, N.Y.) · 2022Article
- Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development.Frontiers in neuroscience · 2022Article
- Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease.Frontiers in genetics · 2022Article
- Structure-based classification of tauopathies.Nature · 2021Article
- Proximity-Dependent Biotinylation to Elucidate the Interactome of TNK2 Nonreceptor Tyrosine Kinase.Journal of proteome research · 2021Article
- Structure of Tau filaments in Prion protein amyloidoses.Acta neuropathologica · 2021Article
- A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.Molecular genetics & genomic medicine · 2021Article
- Review
- TNR Gene Mutation in Familial Parkinson's Disease: Possible Implications for Essential Tremor.Journal of movement disorders · 2021Article
- Cryo-EM structures of tau filaments from Alzheimer's disease with PET ligand APN-1607.Acta neuropathologica · 2021Article
- The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings.Movement disorders : official journal of the Movement Disorder Society · 2021Article
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Authors and funding
26 authors at 7 institutions in 1 country.
Funding
Abstract
importanceParkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.
objectiveTo identify genetic variants contributing to disease risk in familial PD. DESIGN, SETTING, AND
participantsA 2-stage study design that included a discovery cohort of families with PD and a replication cohort of familial probands was used. In the discovery cohort, rare exonic variants that segregated in multiple affected individuals in a family and were predicted to be conserved or damaging were retained. Genes with retained variants were prioritized if expressed in the brain and located within PD-relevant pathways. Genes in which prioritized variants were observed in at least 4 families were selected as candidate genes for replication in the replication cohort. The setting was among individuals with familial PD enrolled from academic movement disorder specialty clinics across the United States. All participants had a family history of PD. MAIN OUTCOMES AND MEASURES: Identification of genes containing rare, likely deleterious, genetic variants in individuals with familial PD using a 2-stage exome sequencing study design.
resultsThe 93 individuals from 32 families in the discovery cohort (49.5% [46 of 93] female) had a mean (SD) age at onset of 61.8 (10.0) years. The 49 individuals with familial PD in the replication cohort (32.6% [16 of 49] female) had a mean (SD) age at onset of 50.1 (15.7) years. Discovery cohort recruitment dates were 1999 to 2009, and replication cohort recruitment dates were 2003 to 2014. Data analysis dates were 2011 to 2015. Three genes containing a total of 13 rare and potentially damaging variants were prioritized in the discovery cohort. Two of these genes (TNK2 and TNR) also had rare variants that were predicted to be damaging in the replication cohort. All 9 variants identified in the 2 replicated genes in 12 families across the discovery and replication cohorts were confirmed via Sanger sequencing. CONCLUSIONS AND RELEVANCE: TNK2 and TNR harbored rare, likely deleterious, variants in individuals having familial PD, with similar findings in an independent cohort. To our knowledge, these genes have not been previously associated with PD, although they have been linked to critical neuronal functions. Further studies are required to confirm a potential role for these genes in the pathogenesis of PD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.