Associated Papers
No evidence for the LRRK2 p.L1795F variant in a Southern Italian cohort with Parkinson's disease.
Gagliardi M et al.
Gene, 2026
Methodological validation of Miro1 retention as a candidate Parkinson's disease biomarker.
Drwesh L et al.
Npj Parkinson's Disease, 2025
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Allele-dependent interaction of LRRK2 and NOD2 in leprosy.
Dallmann-Sauer M et al.
Plos Pathogens, 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
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 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
The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity.
Stormo AED et al.
The Journal of Cell Biology, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
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
Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort.
Bryant N et al.
Human Molecular Genetics, 2021
Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease.
Heckman MG et al.
Parkinsonism & Related Disorders, 2021
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.
Torrealba-Acosta G et al.
Frontiers in Neurology, 2021
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.
Bagyinszky E et al.
Diagnostics (basel, Switzerland), 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
Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
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
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K et al.
Nature Communications, 2016
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.
Benitez BA et al.
Molecular Neurodegeneration, 2016
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease.
Yonova-Doing E et al.
Parkinsonism & Related Disorders, 2012
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
Ross OA et al.
The Lancet. Neurology, 2011
Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.
Seki N et al.
Journal of Human Genetics, 2011
Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.
Jasinska-Myga B et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
A novel LRRK2 mutation in a mainland Chinese patient with familial Parkinson's disease.
Wang L et al.
Neuroscience Letters, 2010
LRRK2 gene variation and its contribution to Parkinson disease.
Paisán-Ruiz C
Human Mutation, 2009
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.
Di Fonzo A et al.
Neurogenetics, 2006
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.
Di Fonzo A et al.
European Journal of Human Genetics : Ejhg, 2006
Lrrk2 pathogenic substitutions in Parkinson's disease.
Mata IF et al.
Neurogenetics, 2005