Associated Papers
Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.
Paksoy B et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.
Anis S et al.
Parkinsonism & Related Disorders, 2025
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
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
PRKN-linked familial Parkinson's disease: cellular and molecular mechanisms of disease-linked variants.
Clausen L et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Motor and Non-motor Outcomes of Deep Brain Stimulation across the Genetic Panorama of Parkinson's Disease: A Multi-Scale Meta-Analysis.
Asimakidou E et al.
Movement Disorders Clinical Practice, 2024
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
Menon PJ et al.
Npj Parkinson's Disease, 2024
Outcome of deep brain stimulation in autosomal recessive monogenic mutations in young onset Parkinson's Disease.
Kashyap M et al.
Parkinsonism & Related Disorders, 2023
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.
Pennings M et al.
European Journal of Human Genetics : Ejhg, 2023
Genetic study of early-onset Parkinson's disease in the Malaysian population.
Tay YW et al.
Parkinsonism & Related Disorders, 2023
In Vivo Investigation of Glucose Metabolism in Idiopathic and PRKN-Related Parkinson's Disease.
Borsche M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Precision Medicine in Parkinson's Disease: From Genetic Risk Signals to Personalized Therapy.
Straccia G et al.
Brain Sciences, 2022
Genetic landscape of early-onset dementia in Hungary.
Csaban D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.
Vacchiano V et al.
Genes, 2022
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.
Zhu W et al.
Brain : a Journal of Neurology, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.
Salles PA et al.
Journal of Parkinson's Disease, 2022
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.
Rossi G et al.
Frontiers in Aging Neuroscience, 2022
Genetics of Parkinson's disease in Brazil: a systematic review of monogenic forms.
Santos-Lobato BL et al.
Arquivos De Neuro-psiquiatria, 2021
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
Gialluisi A et al.
Molecular Neurodegeneration, 2021
Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort.
Bryant N et al.
Human Molecular Genetics, 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort.
Castelo Rueda MP et al.
Frontiers in Neurology, 2021
Glutamate-induced excitotoxicity in Parkinson's disease: The role of glial cells.
Iovino L et al.
Journal of Pharmacological Sciences, 2020
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
A Splice Intervention Therapy for Autosomal Recessive Juvenile Parkinson's Disease Arising from Parkin Mutations.
Li D et al.
International Journal of Molecular Sciences, 2020
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.
Robak LA et al.
Neurology. Genetics, 2020
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Lesage S et al.
Annals of Neurology, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Parkin ubiquitinates phosphoglycerate dehydrogenase to suppress serine synthesis and tumor progression.
Liu J et al.
The Journal of Clinical Investigation, 2020
Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.
De Falco V et al.
Esmo Open, 2020
Exploring the Impact of PARK2 Mutations on the Total and Mitochondrial Proteome of Human Skin Fibroblasts.
Zilocchi M et al.
Frontiers in Cell and Developmental Biology, 2020
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort.
Lesage S et al.
Frontiers in Neurology, 2020
A genetic analysis of a Spanish population with early onset Parkinson's disease.
Cristina TP et al.
Plos One, 2020
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 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
Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease.
Fan K et al.
Parkinson's Disease, 2019
Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.
Diez-Fairen M et al.
Neurobiology of Aging, 2018
Parkinson's disease-linked Parkin mutations impair glutamatergic signaling in hippocampal neurons.
Zhu M et al.
Bmc Biology, 2018
Mechanism of parkin activation by phosphorylation.
Sauvé V et al.
Nature Structural & Molecular Biology, 2018