Associated Papers
Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.
Lim KS et al.
Npj Parkinson's Disease, 2026
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Abundant non-inclusion α-synuclein pathology in Lewy body-negative LRRK2-mutant cases.
Jensen NM et al.
Acta Neuropathologica, 2025
Synaptic deregulation of cholinergic projection neurons causes olfactory dysfunction across five fly Parkinsonism models.
Pech U et al.
Elife, 2025
Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.
Ambroziak M et al.
International Journal of Molecular Sciences, 2025
Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant.
Lim SY et al.
Npj Parkinson's Disease, 2025
The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.
Kars ME et al.
Genome Medicine, 2024
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.
Ogonowski N et al.
Journal of Medical Genetics, 2023
Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing.
Kablan A et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 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
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.
Kalogeropulou AF et al.
The Biochemical Journal, 2022
Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.
Lake J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
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
Community-based genetic study of Parkinson's disease in Estonia.
Muldmaa M et al.
Acta Neurologica Scandinavica, 2021
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.
Torrealba-Acosta G et al.
Frontiers in Neurology, 2021
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
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
Exploring the functional impact of mutational drift in LRRK2 gene and identification of specific inhibitors for the treatment of Parkinson disease.
Nagarajan N et al.
Journal of Cellular Biochemistry, 2018
Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.
Sanchez-Contreras M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.
Cornelius A et al.
Frontiers in Pharmacology, 2017
Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.
Gorostidi A et al.
Molecular Diagnosis & Therapy, 2016
LRRK2 variation and dementia with Lewy bodies.
Heckman MG et al.
Parkinsonism & Related Disorders, 2016
Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?
Oh SH et al.
Gut and Liver, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
LRRK2 exonic variants and risk of multiple system atrophy.
Heckman MG et al.
Neurology, 2014
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 non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.
Foo JN et al.
Human Molecular Genetics, 2014
Patient-control association study of the Leucine-Rich repeat kinase 2 (LRRK2) gene in South African Parkinson's disease patients.
Bardien S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Genome-wide association study signal at the 12q12 locus for Crohn's disease may represent associations with the MUC19 gene.
Kumar V et al.
Inflammatory Bowel Diseases, 2013
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
Rubio JP et al.
Human Mutation, 2012
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Rivas MA et al.
Nature Genetics, 2011
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
Ross OA et al.
The Lancet. Neurology, 2011
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
LRRK2 gene variation and its contribution to Parkinson disease.
Paisán-Ruiz C
Human Mutation, 2009
Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.
Biskup S et al.
Biochimica Et Biophysica Acta, 2009
Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.
Nuytemans K et al.
Human Mutation, 2009
Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease.
Ross OA et al.
Annals of Neurology, 2008