Associated Papers
Naturally occurring hyperactive variants of human parkin.
Huq TS et al.
Communications Biology, 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
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
Menon PJ et al.
Npj Parkinson's Disease, 2024
Nuclear PTEN's Functions in Suppressing Tumorigenesis: Implications for Rare Cancers.
Langdon CG
Biomolecules, 2023
Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.
Vacchiano V et al.
Genes, 2022
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Lesage S et al.
Annals of Neurology, 2020
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 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
The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials.
Illés A et al.
Frontiers in Genetics, 2019
Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.
Diez-Fairen M et al.
Neurobiology of Aging, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients.
Spataro N et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.
Chen YB et al.
Nature Communications, 2016
Site-specific Interaction Mapping of Phosphorylated Ubiquitin to Uncover Parkin Activation.
Yamano K et al.
The Journal of Biological Chemistry, 2015
Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease.
Spataro N et al.
Human Molecular Genetics, 2015
Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's disease.
Pihlstrøm L et al.
Annals of Human Genetics, 2014
Genetic insights into sporadic Parkinson's disease pathogenesis.
Chai C et al.
Current Genomics, 2013
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
Structure of the human Parkin ligase domain in an autoinhibited state.
Wauer T et al.
The Embo Journal, 2013
Structure of parkin reveals mechanisms for ubiquitin ligase activation.
Trempe JF et al.
Science (new York, N.y.), 2013
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
Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.
Brooks J et al.
Journal of Medical Genetics, 2009
Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.
Hertz JM et al.
European Journal of Neurology, 2006