Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.
Towns C et al.
Npj Parkinson's Disease, 2024
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 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
Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.
Miyashita M et al.
Breast Cancer Research : Bcr, 2023
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
Deep brain stimulation for monogenic Parkinson's disease: a systematic review.
Kuusimäki T et al.
Journal of Neurology, 2020
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis.
Artusi CA et al.
Jama Network Open, 2019
Is PARKIN parkinsonism a cancer predisposition syndrome?
Schüle B et al.
Neurology. Genetics, 2015
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
Angeli A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.
Haylett WL et al.
Parkinsonism & Related Disorders, 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
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.
Paisán-Ruiz C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009