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Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.
BMC Neurol.
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Peripheral inflammatory cytokines as biomarkers in Alzheimer's disease and mild cognitive impairment.
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Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.
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Genotype, haplotype and copy-number variation in worldwide human populations.
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DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
Lancet Neurol.
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Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases.
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Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.
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Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease.
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Lack of replication of association between GIGYF2 variants and Parkinson disease.
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Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.
PLoS Genet.
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SNCA variants are associated with increased risk for multiple system atrophy.
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Genetic susceptibility in Parkinson's disease.
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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
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Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.
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Genome-wide association study reveals genetic risk underlying Parkinson's disease.
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Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.
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Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Neurobiol Aging.
2010 May;31(5):725-31. doi: 10.1016/j.neurobiolaging.2008.06.012. Epub 2008 Jul 30. PubMed PMID:
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Effect of a collateral ligament sparing surgical approach on mechanical properties of equine proximal interphalangeal joint arthrodesis constructs.
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Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
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A two-stage meta-analysis identifies several new loci for Parkinson's disease.
PLoS Genet.
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Exome sequencing in Parkinson's disease.
Clin Genet.
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Tau acts as an independent genetic risk factor in pathologically proven PD.
Neurobiol Aging.
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Screening for VPS35 mutations in Parkinson's disease.
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Hyposmia and cognitive impairment in Gaucher disease patients and carriers.
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Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease.
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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
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Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease.
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Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.
Hum Mol Genet.
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Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family.
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Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
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2012 Dec 7;91(6):1041-50. doi: 10.1016/j.ajhg.2012.10.024. Epub 2012 Nov 29. PubMed PMID:
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Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.
JAMA Neurol.
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Lysosomal storage disorders and iron.
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TREM2 variants in Alzheimer's disease.
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A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.
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A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
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The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
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Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study.
PLoS Med.
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Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.
JAMA Neurol.
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Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk.
JAMA Neurol.
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SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
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CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.
Eur J Paediatr Neurol.
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SnapShot: genetics of Alzheimer's disease.
Cell.
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Insights into TREM2 biology by network analysis of human brain gene expression data.
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Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family.
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A paired RNAi and RabGAP overexpression screen identifies Rab11 as a regulator of β-amyloid production.
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Influence of single nucleotide polymorphisms in COMT, MAO-A and BDNF genes on dyskinesias and levodopa use in Parkinson's disease.
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Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
Nature.
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Assessment of Parkinson's disease risk loci in Greece.
Neurobiol Aging.
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