Associated Papers
Ubiquitination in the Nervous System: From Molecular Mechanisms to Disease Implications.
Xue Y et al.
Molecular Neurobiology, 2025
The genetic landscape of spinocerebellar ataxias in Taiwan: Insights from 876 genetically confirmed cases.
Lan SC et al.
Parkinsonism & Related Disorders, 2025
Methodological validation of Miro1 retention as a candidate Parkinson's disease biomarker.
Drwesh L et al.
Npj Parkinson's Disease, 2025
Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.
Miolo G et al.
International Journal of Molecular Sciences, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
Buchert R et al.
American Journal of Human Genetics, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
Screening for PRKN and PINK1 mutations in Ecuadorian patients with early-onset Parkinson's Disease.
Franz TM et al.
Neurologia I Neurochirurgia Polska, 2025
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Weber JJ et al.
Acta Neuropathologica, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson's Disease in Sporadic Moroccan Patients.
Smaili I et al.
Journal of Molecular Neuroscience : Mn, 2023
Effect Modification between Genes and Environment and Parkinson's Disease Risk.
Periñán MT et al.
Annals of Neurology, 2022
Systematic Functional Analysis of PINK1 and PRKN Coding Variants.
Broadway BJ et al.
Cells, 2022
MIEAP and ATG5 are tumor suppressors in a mouse model of BRAFV600E-positive thyroid cancer.
Hamada K et al.
Frontiers in Endocrinology, 2022
Deep resequencing identifies candidate functional genes in leprosy GWAS loci.
Fava VM et al.
Plos Neglected Tropical Diseases, 2021
Parkin, an E3 Ubiquitin Ligase, Plays an Essential Role in Mitochondrial Quality Control in Parkinson's Disease.
Wang XL et al.
Cellular and Molecular Neurobiology, 2021
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Molecular analysis of cyclin D1 modulators PRKN and FBX4 as candidate tumor suppressors in sporadic parathyroid adenomas.
Brewer K et al.
Endocrine Connections, 2021
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.
Torrealba-Acosta G et al.
Frontiers in Neurology, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease.
Halder T et al.
The Indian Journal of Medical Research, 2020
Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease.
Ton ND et al.
Molecular Genetics & Genomic Medicine, 2020
Causative role for defective expression of mitochondria-eating protein in accumulation of mitochondria in thyroid oncocytic cell tumors.
Mussazhanova Z et al.
Cancer Science, 2020
PARK2 and PARK7 Gene Polymorphisms as Risk Factors Associated with Serum Element Concentrations and Clinical Symptoms of Parkinson's Disease.
Sanyal J et al.
Cellular and Molecular Neurobiology, 2020
Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.
Oluwole OG et al.
Bmc Medical Genetics, 2020
A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia.
Smaili I et al.
Case Reports in Genetics, 2020
Early-Onset Parkinson Disease Screening in Patients From Nigeria.
Milanowski LM et al.
Frontiers in Neurology, 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 analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.
Fava VM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease.
Jankovic MZ et al.
Journal of the Neurological Sciences, 2018
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.
Gambardella S et al.
Parkinson's Disease, 2018
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.
Van Giau V et al.
Neuropsychiatric Disease and Treatment, 2018
Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.
Ben-Shachar S et al.
Journal of Molecular Neuroscience : Mn, 2017
Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene.
Shulskaya MV et al.
The International Journal of Neuroscience, 2017
Mutation analysis of the PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations.
Erer S et al.
Clinical Neurology and Neurosurgery, 2016
Dysregulation of Parkin-mediated mitophagy in thyroid Hürthle cell tumors.
Lee J et al.
Carcinogenesis, 2015
Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
Huttenlocher J et al.
Human Molecular Genetics, 2015
Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patients.
Sanyal J et al.
Journal of Human Genetics, 2015
Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease.
Fiala O et al.
Plos One, 2014
Genetic insights into sporadic Parkinson's disease pathogenesis.
Chai C et al.
Current Genomics, 2013