| P2093 | author name string | Mark R Cookson | |
| | Cornelis Blauwendraat | |
| | Xylena Reed | |
| | Sara Bandrés-Ciga | |
| P2860 | cites work | Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) | Q21203040 |
| | Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity | Q22254785 |
| | The R1441C mutation of LRRK2 disrupts GTP hydrolysis | Q24303406 |
| | Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism | Q24321359 |
| | The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation | Q24324345 |
| | Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease | Q24336432 |
| | Hereditary early-onset Parkinson's disease caused by mutations in PINK1 | Q24337084 |
| | Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity | Q24338647 |
| | Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 | Q24536382 |
| | Genome-wide association studies for complex traits: consensus, uncertainty and challenges | Q24550632 |
| | Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies | Q24606055 |
| | Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. | Q24634577 |
| | Genome-wide association study reveals genetic risk underlying Parkinson's disease | Q24646654 |
| | Genetics of Parkinson's disease | Q26827825 |
| | Mutation in the alpha-synuclein gene identified in families with Parkinson's disease | Q27860459 |
| | alpha-Synuclein locus triplication causes Parkinson's disease | Q27860533 |
| | Alpha-synuclein in Lewy bodies | Q27860680 |
| | Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance | Q28077356 |
| | Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases | Q28119192 |
| | Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology | Q28131833 |
| | Lewy bodies and parkinsonism in families with parkin mutations | Q28216308 |
| | Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease | Q28244731 |
| | Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17 | Q28274687 |
| | Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease | Q28292932 |
| | The Parkinson's complex: parkinsonism is just the tip of the iceberg | Q28303954 |
| | A common LRRK2 mutation in idiopathic Parkinson's disease | Q28304886 |
| | A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease | Q28371129 |
| | Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression | Q28598223 |
| | Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy | Q29147504 |
| | G2385R and I2020T Mutations Increase LRRK2 GTPase Activity | Q29347540 |
| | Protective LRRK2 R1398H Variant Enhances GTPase and Wnt Signaling Activity. | Q29347547 |
| | Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy | Q29417026 |
| | The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia | Q29547174 |
| | Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease | Q29547175 |
| | Alpha-synuclein locus duplication as a cause of familial Parkinson's disease | Q29614762 |
| | Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease | Q29614900 |
| | Epidemiology of Parkinson's disease | Q29614901 |
| | Association between early-onset Parkinson's disease and mutations in the parkin gene | Q29615733 |
| | PINK1 phosphorylates ubiquitin to activate Parkin E3 ubiquitin ligase activity | Q29617292 |
| | Kinase activity is required for the toxic effects of mutant LRRK2/dardarin | Q29620478 |
| | GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology | Q30527838 |
| | The LRRK2 G2385R variant is a partial loss-of-function mutation that affects synaptic vesicle trafficking through altered protein interactions. | Q33905778 |
| | Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations | Q33942173 |
| | Parkinson's disease in GTP cyclohydrolase 1 mutation carriers | Q34044060 |
| | LRRK2 G2385R and R1628P mutations are associated with an increased risk of Parkinson's disease in the Malaysian population. | Q34177234 |
| | G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome | Q34335126 |
| | PINK1 mutations are associated with sporadic early-onset parkinsonism | Q34345883 |
| | Novel PINK1 mutations in early-onset parkinsonism | Q34345898 |
| | Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews | Q34365028 |
| | Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease | Q34376115 |
| | Genetic variability in the regulation of gene expression in ten regions of the human brain | Q34398489 |
| | Common fragile sites, extremely large genes, neural development and cancer | Q34459085 |
| | Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease | Q35442728 |
| | Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study | Q35525896 |
| | High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2 | Q35731309 |
| | Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. | Q35938554 |
| | Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus | Q35963497 |
| | Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations | Q36041420 |
| | A novel Alzheimer disease locus located near the gene encoding tau protein. | Q36070145 |
| | Ageing as a primary risk factor for Parkinson's disease: evidence from studies of non-human primates | Q36070618 |
| | Structural diversity and African origin of the 17q21.31 inversion polymorphism | Q36129488 |
| | Clinical Spectrum of Homozygous and Heterozygous PINK1 Mutations in a Large German Family With Parkinson Disease | Q60332322 |
| | An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene. | Q64768245 |
| | Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease | Q64866906 |
| | Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations | Q77996029 |
| | Parkin-positive autosomal recessive juvenile Parkinsonism with alpha-synuclein-positive inclusions | Q80485457 |
| | Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease | Q80794093 |
| | Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls | Q80980652 |
| | PET neuroimaging and mutations in the DJ-1 gene | Q81061199 |
| | Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease? | Q83932029 |
| | Novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology | Q87710261 |
| | MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17) | Q88885590 |
| | Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation | Q46848071 |
| | A human microglia-like cellular model for assessing the effects of neurodegenerative disease gene variants. | Q47269263 |
| | Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study | Q47274054 |
| | A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. | Q47823702 |
| | A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations. | Q47871666 |
| | PINK1-linked parkinsonism is associated with Lewy body pathology | Q48252842 |
| | Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population | Q48266604 |
| | Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication | Q48298527 |
| | Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. | Q48390133 |
| | An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype | Q48480564 |
| | Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes | Q48545239 |
| | Case-control study of the parkin gene in early-onset Parkinson disease | Q48587876 |
| | PARK6-linked parkinsonism occurs in several European families | Q48673610 |
| | Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype | Q48717906 |
| | Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene | Q48944767 |
| | Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations | Q48974297 |
| | Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease | Q50424585 |
| | DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. | Q51051455 |
| | The G2385R risk factor for Parkinson's disease enhances CHIP-dependent intracellular degradation of LRRK2. | Q51093225 |
| | Association between the extended tau haplotype and frontotemporal dementia. | Q53248787 |
| | LRRK2 R1398H polymorphism is associated with decreased risk of Parkinson's disease in a Han Chinese population. | Q54397232 |
| | A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. | Q54683068 |
| | Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study. | Q54690286 |
| | Parkin variants in North American Parkinson's disease: cases and controls. | Q54740524 |
| | The role of pathogenic DJ-1 mutations in Parkinson's disease. | Q54757155 |
| | LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. | Q55041570 |
| | A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease | Q55670967 |
| | A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease | Q57177625 |
| | PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism | Q57243918 |
| | Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus | Q57291461 |
| | Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease | Q57309405 |
| | Heterozygousparkinpoint mutations are as common in control subjects as in Parkinson's patients | Q57623807 |
| | Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease | Q57629146 |
| | Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease | Q57629165 |
| | Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease | Q57977634 |
| | Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred | Q57983261 |
| | A heterozygous effect for PINK1 mutations in Parkinson's disease? | Q58617948 |
| | Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family | Q60332321 |
| | ??? | Q64862721 |
| | The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease | Q36325701 |
| | Mutation in the tau gene in familial multiple system tauopathy with presenile dementia | Q36507684 |
| | Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17 | Q36637691 |
| | Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease | Q36761674 |
| | GBA deficiency promotes SNCA/α-synuclein accumulation through autophagic inhibition by inactivated PPP2A. | Q36777244 |
| | Deciphering the role of heterozygous mutations in genes associated with parkinsonism | Q36854642 |
| | Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe | Q36994687 |
| | The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease | Q37082285 |
| | Incidence and remaining lifetime risk of Parkinson disease in advanced age. | Q37178352 |
| | Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain. | Q37295073 |
| | Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants | Q37312762 |
| | Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease. | Q37313530 |
| | The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. | Q37325058 |
| | A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies | Q37346468 |
| | Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling | Q37595673 |
| | Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism | Q37736984 |
| | The neuropathology of genetic Parkinson's disease | Q37997386 |
| | Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease | Q38041529 |
| | The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal | Q38613451 |
| | A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease | Q38697117 |
| | The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity | Q38769351 |
| | A53T in a parkinsonian family: a clinical update of the SNCA phenotypes | Q38850614 |
| | G2019S LRRK2 mutation in French and North African families with Parkinson's disease | Q39171895 |
| | Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. | Q39562553 |
| | The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts | Q40194429 |
| | Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia | Q40251831 |
| | Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). | Q40515980 |
| | Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. | Q40555443 |
| | Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease | Q41217598 |
| | Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study | Q42688205 |
| | Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain). | Q42933007 |
| | Haplotype-specific MAPT exon 3 expression regulated by common intronic polymorphisms associated with Parkinsonian disorders. | Q43287320 |
| | Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study | Q44147105 |
| | Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation | Q45218994 |
| | High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening | Q45309180 |
| | PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum | Q45373112 |
| | Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry. | Q46001147 |
| P921 | main subject | Parkinson's disease | Q11085 |
| P304 | page(s) | 230-239 | |
| P577 | publication date | 2018-11-15 | |
| P1433 | published in | Neurobiology of Disease | Q15716606 |
| P1476 | title | The role of monogenic genes in idiopathic Parkinson's disease | |
| P478 | volume | 124 | |