Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease

O Cooper, H Seo, S Andrabi… - Science translational …, 2012 - science.org
Parkinson's disease (PD) is a common neurodegenerative disorder caused by genetic and
environmental factors that results in degeneration of the nigrostriatal dopaminergic pathway …

[HTML][HTML] TREM2 in neurodegeneration: evidence for association of the p. R47H variant with frontotemporal dementia and Parkinson's disease

S Rayaprolu, B Mullen, M Baker, T Lynch… - Molecular …, 2013 - Springer
Background A rare variant in the Triggering Receptor Expressed on Myeloid cells 2
(TREM2) gene has been reported to be a genetic risk factor for Alzheimer's disease by two …

[PDF][PDF] Translation initiator EIF4G1 mutations in familial Parkinson disease

MC Chartier-Harlin, JC Dachsel… - The American Journal of …, 2011 - cell.com
Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has
implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is …

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

OA Ross, AI Soto-Ortolaza, MG Heckman… - The Lancet …, 2011 - thelancet.com
Summary Background Background The leucine-rich repeat kinase 2 gene (LRRK2)
harbours highly penetrant mutations that are linked to familial parkinsonism. However, the …

Large-scale replication and heterogeneity in Parkinson disease genetic loci

M Sharma, JPA Ioannidis, JO Aasly, G Annesi, A Brice… - Neurology, 2012 - AAN Enterprises
Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-
analysis of genome-wide association studies in Parkinson disease (PD) based on …

Heterozygous PINK1 p. G411S increases risk of Parkinson's disease via a dominant-negative mechanism

A Puschmann, FC Fiesel, TR Caulfield, R Hudec… - Brain, 2017 - academic.oup.com
See Gandhi and Plun-Favreau (doi: 10.1093/aww320) for a scientific commentary on this
article. It has been postulated that heterozygous mutations in recessive Parkinson's genes …

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

M Sharma, JPA Ioannidis, JO Aasly, G Annesi… - Journal of medical …, 2012 - jmg.bmj.com
Background Two recent studies identified a mutation (p. Asp620Asn) in the vacuolar protein
sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although …

The association of functional catechol-O-methyltransferase haplotypes with risk of Parkinson's disease, levodopa treatment response, and complications

M Bialecka, M Kurzawski… - Pharmacogenetics …, 2008 - journals.lww.com
Objectives In this case–control study, we investigated the association of the most common
COMT gene haplotypes (formed by single nucleotide polymorphisms (SNPs): rs6269: A> G; …

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

A Elbaz, OA Ross, JPA Ioannidis… - Annals of …, 2011 - Wiley Online Library
Objective: We studied the independent and joint effects of the genes encoding alpha‐
synuclein (SNCA) and microtubule‐associated protein tau (MAPT) in Parkinson disease …

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease

D Hoffman-Zacharska, D Koziorowski, OA Ross… - Parkinsonism & related …, 2013 - Elsevier
Objective Mutations in the α-synuclein-encoding gene SNCA are considered as a rare
cause of Parkinson's disease (PD). Our objective was to examine the frequency of the SNCA …