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Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01387-8
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- Publication type:
- Article
Translational Research in Genomics of Alzheimer's Disease: A Review of Current Practice and Future Perspectives.
- Published in:
- Journal of Alzheimer's Disease, 2010, v. 20, n. 4, p. 967, doi. 10.3233/JAD-2010-1410
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- Publication type:
- Article
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
- Published in:
- 2017
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- Publication type:
- journal article
Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia.
- Published in:
- 2017
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- Publication type:
- journal article
Exploring the role of brain DNA methylomic signatures on gene expression dynamics of frontotemporal lobar degeneration.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.072651
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- Publication type:
- Article
Exploring the role of brain DNA methylomic signatures on gene expression dynamics of frontotemporal lobar degeneration.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.072651
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- Publication type:
- Article
P3‐152: NEURONAL MISSPLICING AND IMBALANCE IN TAU ISOFORM RATIO THROUGH ATXN3 MEDIATED DEUBIQUITYLATION: IMPLICATIONS FOR DISEASE.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P990, doi. 10.1016/j.jalz.2019.06.3181
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- Publication type:
- Article
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.
- Published in:
- 2015
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- Publication type:
- Letter
A genome-wide association study of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD)
- Published in:
- 2010
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- Publication type:
- Abstract
P2-106: UBAP1 is a risk factor for frontotemporal lobar degeneration
- Published in:
- 2008
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- Publication type:
- Abstract
P1-127: Distinguishing neurodegenerative disorders with tau pathology using MRNA expression microarrays
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- 2006
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- Publication type:
- Abstract
O2-02-03: Linkage-based full genome scan for late onset Alzheimer’s disease in a genetically isolated population
- Published in:
- 2006
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- Publication type:
- Abstract
P1-127: Distinguishing neurodegenerative disorders with tau pathology using MRNA expression microarrays
- Published in:
- 2006
- By:
- Publication type:
- Abstract
O2-02-03: Linkage-based full genome scan for late onset Alzheimer’s disease in a genetically isolated population
- Published in:
- 2006
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- Publication type:
- Abstract
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
- Published in:
- Nature Genetics, 2011, v. 43, n. 7, p. 699, doi. 10.1038/ng.859
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- Publication type:
- Article
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
- Published in:
- Nature Genetics, 2010, v. 42, n. 3, p. 234, doi. 10.1038/ng.536
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- Publication type:
- Article
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies.
- Published in:
- Nature Genetics, 2006, v. 38, n. 5, p. 556, doi. 10.1038/ng1770
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- Publication type:
- Article
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 213, doi. 10.1038/90038
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- Publication type:
- Article
C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0306-7
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- Publication type:
- Article
Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson’s Disease.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128651
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- Publication type:
- Article
Trehalose Improves Human Fibroblast Deficits in a New CHIP-Mutation Related Ataxia.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106931
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- Publication type:
- Article
Resequencing Three Candidate Genes for Major Depressive Disorder in a Dutch Cohort.
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- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079921
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- Publication type:
- Article
Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated <i>LRRK2</i> Locus.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070724
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- Publication type:
- Article
<i>FADS2</i> Genetic Variance in Combination with Fatty Acid Intake Might Alter Composition of the Fatty Acids in Brain.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0068000
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- Publication type:
- Article
A Fine-Mapping Study of 7 Top Scoring Genes from a GWAS for Major Depressive Disorder.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037384
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- Publication type:
- Article
Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0028787
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- Publication type:
- Article
Variation at GRN 3'-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population.
- Published in:
- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007494
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- Publication type:
- Article
Comprehensive mRNA Expression Profiling Distinguishes Tauopathies and Identifies Shared Molecular Pathways.
- Published in:
- PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006826
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- Publication type:
- Article
Genome-Wide Prediction of Functional Gene-Gene Interactions Inferred from Patterns of Genetic Differentiation in Mice and Men.
- Published in:
- PLoS ONE, 2008, v. 3, n. 2, p. 1, doi. 10.1371/journal.pone.0001593
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- Publication type:
- Article
Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.
- Published in:
- Neurodegenerative Diseases, 2017, v. 17, n. 2/3, p. 83, doi. 10.1159/000448896
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- Publication type:
- Article
Novel regulators of PrP<sup>C</sup> biosynthesis revealed by genome-wide RNA interference.
- Published in:
- PLoS Pathogens, 2021, v. 17, n. 10, p. 1, doi. 10.1371/journal.ppat.1010013
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- Publication type:
- Article
Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson’s disease.
- Published in:
- Journal of Molecular Medicine, 2004, v. 82, n. 3, p. 163, doi. 10.1007/s00109-003-0512-1
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- Publication type:
- Article
Population and genomic lessons from genetic analysis of two Indian populations.
- Published in:
- Human Genetics, 2014, v. 133, n. 10, p. 1273, doi. 10.1007/s00439-014-1462-0
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- Publication type:
- Article
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
- Published in:
- Human Genetics, 2008, v. 122, n. 6, p. 595, doi. 10.1007/s00439-007-0436-x
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- Publication type:
- Article
Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands.
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 51, doi. 10.1007/s00439-005-0108-7
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- Publication type:
- Article
Chasing genes in Alzheimer’s and Parkinson’s disease.
- Published in:
- Human Genetics, 2004, v. 114, n. 5, p. 413, doi. 10.1007/s00439-004-1097-7
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- Publication type:
- Article
Phenotypic Variation in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17.
- Published in:
- Dementia & Geriatric Cognitive Disorders, 2004, v. 17, n. 4, p. 261, doi. 10.1159/000077150
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- Publication type:
- Article
Accurate prediction of a minimal region around a genetic association signal that contains the causal variant.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 238, doi. 10.1038/ejhg.2013.115
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- Publication type:
- Article
Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 956, doi. 10.1038/ejhg.2012.22
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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
Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap–CEU populations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 802, doi. 10.1038/ejhg.2008.248
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- Publication type:
- Article
Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene–gene interaction on working memory functioning.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1075, doi. 10.1038/ejhg.2008.57
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- Publication type:
- Article
Empirical assessment of the validity of the ‘fundamental theorem of the HapMap’ in the light of ‘cryptic’ tagging of multiple susceptibility loci.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 4, p. 525, doi. 10.1038/sj.ejhg.5201984
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- Publication type:
- Article
Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 335, doi. 10.1038/sj.ejhg.5201979
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- Publication type:
- Article
Progranulin mutations in Dutch familial frontotemporal lobar degeneration.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 3, p. 369, doi. 10.1038/sj.ejhg.5201772
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- Publication type:
- Article
Linkage disequilibrium in young genetically isolated Dutch population.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 527, doi. 10.1038/sj.ejhg.5201188
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- Publication type:
- Article
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 5, p. 409, doi. 10.1038/sj.ejhg.5200982
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- Publication type:
- Article
Postaxial polydactyly type A/B (PAP-A/B) in linked to chromosome 19p13.1-13.2 in a chinese kindred.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 162, doi. 10.1038/sj.ejhg.5200790
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- Publication type:
- Article
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 653, doi. 10.1038/sj.ejhg.5200692
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- Publication type:
- Article
Profiling transcription initiation in human aged brain using deep-CAGE.
- Published in:
- 2011
- By:
- Publication type:
- Abstract