Associated Papers
Expanding the utility of variant effect predictions with phenotype-specific models.
Stein D et al.
Nature Communications, 2025
Therapeutic potential of Parkin and its regulation in Parkinson's disease.
Safreena N et al.
Biochemical Pharmacology, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
Single nucleotide variants in lung cancer.
Tian X et al.
Chinese Medical Journal Pulmonary and Critical Care Medicine, 2024
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
Menon PJ et al.
Npj Parkinson's Disease, 2024
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing.
Kablan A et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2023
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Whole-Exome Sequencing on Circulating Tumor Cells Explores Platinum-Drug Resistance Mutations in Advanced Non-small Cell Lung Cancer.
Chang Y et al.
Frontiers in Genetics, 2021
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Lesage S et al.
Annals of Neurology, 2020
Structural analysis of the effects of mutations in Ubl domain of Parkin leading to Parkinson's disease.
Biswas S et al.
Gene, 2020
Somatic and germline mutations in the tumor suppressor gene PARK2 impair PINK1/Parkin-mediated mitophagy in lung cancer cells.
Zhang ZL et al.
Acta Pharmacologica Sinica, 2020
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.
González-Casacuberta I et al.
Frontiers in Neuroscience, 2019
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
Ghani M et al.
Neurobiology of Aging, 2015
Contribution of germline mutations to PARK2 gene inactivation in lung adenocarcinoma.
Iwakawa R et al.
Genes, Chromosomes & Cancer, 2012
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Nuytemans K et al.
Human Mutation, 2010
Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.
Veeriah S et al.
Nature Genetics, 2010
Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.
Okubadejo N et al.
Plos One, 2008
How do Parkin mutations result in neurodegeneration?
Imai Y et al.
Current Opinion in Neurobiology, 2004