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Investigation of the genetic aetiology of Lewy body diseases with and without dementia.
- Published in:
- Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae190
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- Publication type:
- Article
Assessing the lack of diversity in genetics research across neurodegenerative diseases: A systematic review of the GWAS Catalog and literature.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 8, p. 5740, doi. 10.1002/alz.13873
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- Publication type:
- Article
A cross‐sectional study of α‐synuclein seed amplification assay in Alzheimer's disease neuroimaging initiative: Prevalence and associations with Alzheimer's disease biomarkers and cognitive function.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 8, p. 5114, doi. 10.1002/alz.13858
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- Publication type:
- Article
SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease.
- Published in:
- 2019
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- Publication type:
- journal article
Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.
- Published in:
- 2018
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- Publication type:
- letter
Leucine rich repeat kinase knockout (LRRK KO) mouse model: Linking pathological hallmarks of inherited and sporadic Parkinson's disease.
- Published in:
- 2018
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- Publication type:
- journal article
No clear support for a role for vitamin D in Parkinson's disease: A Mendelian randomization study.
- Published in:
- 2017
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- Publication type:
- journal article
Make dopamine neurons great again: An exciting new therapeutic option in parkinson's disease.
- Published in:
- 2017
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- Publication type:
- journal article
Parkinson disease and clathrin coat dynamics at synapses, why not?
- Published in:
- 2017
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- Publication type:
- journal article
Arguing against the proposed definition changes of PD.
- Published in:
- 2016
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- Publication type:
- journal article
Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI).
- Published in:
- 2016
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- Publication type:
- journal article
Genetic risk and age in Parkinson's disease: Continuum not stratum.
- Published in:
- Movement Disorders, 2015, v. 30, n. 6, p. 850, doi. 10.1002/mds.26192
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- Publication type:
- Article
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
- Published in:
- Movement Disorders, 2015, v. 30, n. 2, p. 262, doi. 10.1002/mds.26059
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- Publication type:
- Article
The genetics of Parkinson's disease: Progress and therapeutic implications.
- Published in:
- Movement Disorders, 2013, v. 28, n. 1, p. 14, doi. 10.1002/mds.25249
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- Publication type:
- Article
Rapid genetic diagnosis in single-gene movement disorders.
- Published in:
- Movement Disorders, 2012, v. 27, n. 4, p. 467, doi. 10.1002/mds.24896
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- Publication type:
- Article
: A new player in Parkinson's disease.
- Published in:
- 2011
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- Publication type:
- journal article
One beginning, many ends: Mutations in one gene causing varied clinical entities.
- Published in:
- Movement Disorders, 2011, v. 26, n. 3, p. 379, doi. 10.1002/mds.23666
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- Publication type:
- Article
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
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- Movement Disorders, 2010, v. 25, n. 12, p. 1791, doi. 10.1002/mds.23221
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- Publication type:
- Article
Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.
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- Movement Disorders, 2010, v. 25, n. 6, p. 771, doi. 10.1002/mds.22970
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- Publication type:
- Article
Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome.
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- Movement Disorders, 2009, v. 24, n. 1, p. 138, doi. 10.1002/mds.22181
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- Publication type:
- Article
Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening.
- Published in:
- Movement Disorders, 2008, v. 23, n. 4, p. 518, doi. 10.1002/mds.21771
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- Publication type:
- Article
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
- Published in:
- Movement Disorders, 2007, v. 22, n. 2, p. 162, doi. 10.1002/mds.21182
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- Article
Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.
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- 2006
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- Publication type:
- journal article
SCA2 may present as levodopa-responsive parkinsonism.
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- Movement Disorders, 2003, v. 18, n. 4, p. 425, doi. 10.1002/mds.10375
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- Publication type:
- Article
Case-Control study of dopamine transporter-1, monoamine oxidase-B, and catechol- O-methyl transferase polymorphisms in Parkinson's disease.
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- Movement Disorders, 2002, v. 17, n. 6, p. 1305, doi. 10.1002/mds.10268
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- Publication type:
- Article
Change in Epigenome-Wide DNA Methylation Over 9 Years and Subsequent Mortality: Results From the InCHIANTI Study.
- Published in:
- 2016
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- Publication type:
- journal article
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
- Published in:
- 2017
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- Publication type:
- journal article
Cell population-specific expression analysis of human cerebellum.
- Published in:
- BMC Genomics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2164-13-610
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- Publication type:
- Article
Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 2, p. 572, doi. 10.1093/hmg/ddu454
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- Publication type:
- Article
Genetic comorbidities in Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 3, p. 831
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- Publication type:
- Article
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4094, doi. 10.1093/hmg/dds238
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- Publication type:
- Article
Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 4082, doi. 10.1093/hmg/ddr328
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- Publication type:
- Article
Distinct DNA methylation changes highly correlated with chronological age in the human brain.
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- Human Molecular Genetics, 2011, v. 20, n. 6, p. 1164, doi. 10.1093/hmg/ddq561
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- Publication type:
- Article
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 16, p. 3295, doi. 10.1093/hmg/ddq221
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- Publication type:
- Article
Lack of replication of association between GIGYF2 variants and Parkinson disease.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 2, p. 341
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- Publication type:
- Article
A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3847, doi. 10.1093/hmg/ddn283
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- Publication type:
- Article
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1988, doi. 10.1093/hmg/ddn096
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- Publication type:
- Article
Plasma 24-metabolite Panel Predicts Preclinical Transition to Clinical Stages of Alzheimer's Disease.
- Published in:
- Frontiers in Neurology, 2015, v. 6, p. 1, doi. 10.3389/fneur.2015.00237
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- Article
LRRK2 mediates microglial neurotoxicity via NFATc2 in rodent models of synucleinopathies.
- Published in:
- Science Translational Medicine, 2020, v. 12, n. 565, p. 1, doi. 10.1126/scitranslmed.aay0399
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- Article
Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk.
- Published in:
- 2023
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- Publication type:
- journal article
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.
- Published in:
- 2022
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- Publication type:
- journal article
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
- Published in:
- 2017
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- Publication type:
- journal article
Towards a Global View of Parkinson's Disease Genetics.
- Published in:
- Annals of Neurology, 2024, v. 95, n. 5, p. 831, doi. 10.1002/ana.26905
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- Publication type:
- Article
A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease.
- Published in:
- 2018
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- Publication type:
- journal article
Is the MC1R variant p.R160W associated with Parkinson's?
- Published in:
- 2016
- By:
- Publication type:
- letter
Polygenic risk of Parkinson disease is correlated with disease age at onset.
- Published in:
- Annals of Neurology, 2015, v. 77, n. 4, p. 582, doi. 10.1002/ana.24335
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- Publication type:
- Article
Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations.
- Published in:
- 2016
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- Publication type:
- journal article
Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations.
- Published in:
- Diabetes, 2016, v. 65, n. 12, p. 3974, doi. 10.2337/db16-0470
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- Publication type:
- Article
Genome-wide association study of neocortical Lewy-related pathology.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 9, p. 920, doi. 10.1002/acn3.231
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- Publication type:
- Article
Genome-wide association study confirms extant PD risk loci among the Dutch.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 655, doi. 10.1038/ejhg.2010.254
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- Publication type:
- Article