Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Methodological validation of Miro1 retention as a candidate Parkinson's disease biomarker.
Drwesh L et al.
Npj Parkinson's Disease, 2025
Genetic variants of ZNF746 and the level of plasma Parkin, PINK1, and ZNF746 proteins in patients with Parkinson's disease.
Dorszewska J et al.
Ibro Neuroscience Reports, 2025
Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.
Yin EP et al.
Journal of Parkinson's Disease, 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
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 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
Correction: PTEN-induced kinase 1 gene single-nucleotide variants as biomarkers in adjuvant chemotherapy for colorectal cancer: a retrospective study.
Mihara Y et al.
Bmc Gastroenterology, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.
Koros C et al.
Genes, 2023
PTEN-induced kinase 1 gene single-nucleotide variants as biomarkers in adjuvant chemotherapy for colorectal cancer: a retrospective study.
Mihara Y et al.
Bmc Gastroenterology, 2023
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.
Grigor'eva EV et al.
International Journal of Molecular Sciences, 2023
The PINK1 p.Asn521Thr Variant Is Associated with Earlier Disease Onset in GRN/C9orf72 Frontotemporal Lobar Degeneration.
Rossi G et al.
International Journal of Molecular Sciences, 2022
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Systematic Functional Analysis of PINK1 and PRKN Coding Variants.
Broadway BJ et al.
Cells, 2022
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
Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.
Ma KY et al.
Npj Parkinson's Disease, 2021
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.
Khan S et al.
Bmc Research Notes, 2021
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.
Torrealba-Acosta G et al.
Frontiers in Neurology, 2021
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
Genetic characterization of Parkinson's disease patients in Ecuador and Colombia.
Tipton PW et al.
Parkinsonism & Related Disorders, 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
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
Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.
Patel T et al.
Neuropathology and Applied Neurobiology, 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
The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.
Hauser DN et al.
Current Protein & Peptide Science, 2017
Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China.
Wang D et al.
Scientific Reports, 2016
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
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
Novel P-TEN-induced putative kinase 1 (PINK1) variant in Indian Parkinson's disease patient.
Halder T et al.
Neuroscience Letters, 2015
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014