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
Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.
Walkenhorst M et al.
Frontiers in Medicine, 2025
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
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
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
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
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
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
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Suarez-Kelly LP et al.
Cold Spring Harbor Molecular Case Studies, 2018
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
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
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 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
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
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 clinic-based screening of mutations in exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's disease patients.
Shojaee S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009
Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation.
Johnson J et al.
Neuro-degenerative Diseases, 2007
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