Published in PLoS One on October 17, 2008
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat (2010) 2.29
Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. Arch Neurol (2010) 1.38
Clinical profile of parkinsonism and Parkinson's disease in Lagos, Southwestern Nigeria. BMC Neurol (2010) 1.02
Clinical profile of parkinsonian disorders in the tropics: Experience at Kano, northwestern Nigeria. J Neurosci Rural Pract (2012) 0.88
Screening LRRK2 gene mutations in patients with Parkinson's disease in Ghana. J Neurol (2011) 0.82
LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients. J Neural Transm (Vienna) (2010) 0.81
Neurogenomics in Africa: Perspectives, progress, possibilities and priorities. J Neurol Sci (2016) 0.78
LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease. Parkinsons Dis (2017) 0.75
Epidemiology of Parkinsonism and Parkinson's disease in Sub-Saharan Africa: Nigerian profile. J Neurosci Rural Pract (2012) 0.75
Neuroscience-related research in Ghana: a systematic evaluation of direction and capacity. Metab Brain Dis (2015) 0.75
LRRK2 variation and Parkinson's disease in African Americans. Mov Disord (2010) 0.75
"Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res (1975) 301.74
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science (1997) 28.30
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature (1998) 21.49
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron (2004) 14.35
Accounting for human polymorphisms predicted to affect protein function. Genome Res (2002) 14.10
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron (2004) 13.99
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science (2002) 9.90
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet (2000) 7.83
The Unified Parkinson's Disease Rating Scale (UPDRS): status and recommendations. Mov Disord (2003) 6.94
Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med (2000) 4.98
S-nitrosylation of parkin regulates ubiquitination and compromises parkin's protective function. Science (2004) 4.97
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet (2005) 3.29
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med (2006) 2.93
Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol (2007) 2.40
Parkinsonism: onset, progression, and mortality. 1967. Neurology (2001) 1.89
Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat (2008) 1.49
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Mov Disord (2005) 1.34
Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. Hum Mutat (2008) 1.31
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology (2000) 1.31
Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov Disord (2002) 1.12
Parkin variants in North American Parkinson's disease: cases and controls. Mov Disord (2003) 1.11
Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. Arch Neurol (2003) 1.03
Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. Arch Neurol (2001) 1.01
LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century. Am J Hum Genet (2005) 1.01
An analysis of genetic studies of Parkinson's disease in Africa. Parkinsonism Relat Disord (2007) 0.83
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genotype, haplotype and copy-number variation in worldwide human populations. Nature (2008) 12.40
A survey of genetic human cortical gene expression. Nat Genet (2007) 12.04
TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10
Genomewide association studies and human disease. N Engl J Med (2009) 9.05
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol (2006) 7.32
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J Clin Psychiatry (2007) 7.23
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron (2007) 6.88
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet (2010) 6.66
Parkinson's disease. Lancet (2009) 6.60
Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia. Proc Natl Acad Sci U S A (2003) 6.46
Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis (2006) 5.96
Toxic proteins in neurodegenerative disease. Science (2002) 5.82
A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet (2005) 5.81
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet (2006) 5.50
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet (2012) 4.87
A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet (2008) 4.75
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet (2008) 4.69
Biomarkers for Alzheimer's disease: academic, industry and regulatory perspectives. Nat Rev Drug Discov (2010) 4.55
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain (2009) 4.01
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol (2007) 3.93
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol (2013) 3.70
Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet (2005) 3.63
Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol (2009) 3.62
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61
Genetics of Parkinson's disease and parkinsonism. Ann Neurol (2006) 3.60
SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol (2009) 3.55
Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet (2008) 3.42
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genet (2009) 3.38
Genetic control of human brain transcript expression in Alzheimer disease. Am J Hum Genet (2009) 3.35
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet (2010) 3.34
Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27
Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus. Nat Commun (2011) 3.23
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation. Hum Mol Genet (2004) 3.12
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol (2008) 3.03
Correlations between apolipoprotein E epsilon4 gene dose and brain-imaging measurements of regional hypometabolism. Proc Natl Acad Sci U S A (2005) 3.02
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol (2007) 2.99
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
Biological markers for therapeutic trials in Alzheimer's disease. Proceedings of the biological markers working group; NIA initiative on neuroimaging in Alzheimer's disease. Neurobiol Aging (2003) 2.96
Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies. J Neurochem (2011) 2.82
Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons. Neuron (2002) 2.65
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain (2012) 2.65
Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. FASEB J (2003) 2.64
Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. Lancet Neurol (2009) 2.60
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat Genet (2009) 2.58
Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med (2012) 2.58
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One (2010) 2.57
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Hum Mol Genet (2010) 2.51
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord (2010) 2.47
The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol Dis (2006) 2.42
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32
Antiamyloid therapy for Alzheimer's disease--are we on the right road? N Engl J Med (2014) 2.29
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain (2012) 2.28
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol (2003) 2.23
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol (2012) 2.20
Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21. Stroke (2008) 2.19
Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration. Brain (2011) 2.13
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet (2007) 2.09
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet (2013) 2.09
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Am J Hum Genet (2005) 2.04