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Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.
- Published in:
- NPJ Parkinson's Disease, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41531-019-0080-x
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- Publication type:
- Article
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability.
- Published in:
- NPJ Parkinson's Disease, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41531-019-0076-6
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- Publication type:
- Article
Characterization of calcium-independent purinergic receptor-mediated apoptosis in hormone-refractory prostate cancer.
- Published in:
- BJU International, 2008, v. 101, n. 3, p. 352, doi. 10.1111/j.1464-410X.2007.07293.x
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- Publication type:
- Article
Purinergic receptor-mediated effects of ATP in high-grade bladder cancer.
- Published in:
- BJU International, 2008, v. 101, n. 1, p. 106, doi. 10.1111/j.1464-410X.2007.07286.x
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- Publication type:
- Article
CoExp: A Web Tool for the Exploitation of Co-expression Networks.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.630187
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- Publication type:
- Article
The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 4974, doi. 10.1093/brain/awad246
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- Publication type:
- Article
Large-scale rare variant burden testing in Parkinson's disease.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4622, doi. 10.1093/brain/awad214
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- Publication type:
- Article
Association between the LRP1B and APOE loci in the development of Parkinson's disease dementia.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1873, doi. 10.1093/brain/awac414
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- Publication type:
- Article
A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene.
- Published in:
- 2021
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- Publication type:
- Journal Article
Regional brain iron and gene expression provide insights into neurodegeneration in Parkinson's disease.
- Published in:
- 2021
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- Publication type:
- journal article
Differences in network controllability and regional gene expression underlie hallucinations in Parkinson's disease.
- Published in:
- 2020
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- Publication type:
- journal article
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.
- Published in:
- 2020
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- Publication type:
- journal article
Informing disease modelling with brain-relevant functional genomic annotations.
- Published in:
- 2019
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- Publication type:
- journal article
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
- Published in:
- 2019
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- Publication type:
- journal article
Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
- Published in:
- 2017
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- Publication type:
- Letter
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02792-w
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- Publication type:
- Article
ASL expression in ALDH1A1<sup>+</sup> neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
- Published in:
- Human Genetics, 2021, v. 140, n. 10, p. 1471, doi. 10.1007/s00439-021-02345-5
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- Publication type:
- Article
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 7, p. e88, doi. 10.1093/nar/gkt069
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- Publication type:
- Article
Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30017-z
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- Publication type:
- Article
The ENIGMA‐Epilepsy working group: Mapping disease from large data sets.
- Published in:
- Human Brain Mapping, 2022, v. 43, n. 1, p. 113, doi. 10.1002/hbm.25037
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- Publication type:
- Article
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 1, p. 70, doi. 10.1038/ng.2829
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- Publication type:
- Article
Sequential expression of three receptor subtypes for extracellular ATP in developing rat skeletal muscle.
- Published in:
- Developmental Dynamics, 2001, v. 221, n. 3, p. 331, doi. 10.1002/dvdy.1147
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- Publication type:
- Article
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2.
- Published in:
- Bioinformatics, 2022, v. 38, n. 15, p. 3844, doi. 10.1093/bioinformatics/btac409
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- Publication type:
- Article
Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights.
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- Bioinformatics, 2021, v. 37, n. 18, p. 2905, doi. 10.1093/bioinformatics/btab175
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- Publication type:
- Article
ATP regulates the differentiation for mammalian skeletal muscle by activation of a P2X[sub 5] receptor on satellite cells.
- Published in:
- Journal of Cell Biology, 2002, v. 158, n. 2, p. 345, doi. 10.1083/jcb.200202025
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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
Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022489
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- Publication type:
- Article
Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00317-w
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- Publication type:
- Article
An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.
- Published in:
- BMC Systems Biology, 2017, v. 11, p. 1, doi. 10.1186/s12918-017-0420-6
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- Publication type:
- Article
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
- Published in:
- JAMA Neurology, 2021, v. 78, n. 4, p. 464, doi. 10.1001/jamaneurol.2020.5257
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- Publication type:
- Article
Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 7, p. 831, doi. 10.1001/jamaneurol.2014.756
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- Publication type:
- Article
A systems‐level analysis highlights microglial activation as a modifying factor in common epilepsies.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 1, p. 1, doi. 10.1111/nan.12758
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- Publication type:
- Article
Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci.
- Published in:
- Annals of Human Genetics, 2013, v. 77, n. 2, p. 85, doi. 10.1111/ahg.12000
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- Publication type:
- Article
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3140, doi. 10.1093/brain/awt233
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- Publication type:
- Article
eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.
- Published in:
- PLoS Genetics, 2023, v. 19, n. 9, p. 1, doi. 10.1371/journal.pgen.1010932
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- Publication type:
- Article
Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases.
- Published in:
- Briefings in Functional Genomics & Proteomics, 2009, v. 8, n. 3, p. 194, doi. 10.1093/bfgp/elp028
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- Publication type:
- Article
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00749-4
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- Publication type:
- Article
Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00573-2
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- Publication type:
- Article
Author Correction: Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases.
- Published in:
- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00504-1
- By:
- Publication type:
- Article
Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2544, doi. 10.1002/acn3.51222
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- Publication type:
- Article
Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 12, p. 924, doi. 10.1002/acn3.369
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- Publication type:
- Article
Widespread sex differences in gene expression and splicing in the adult human brain.
- Published in:
- Nature Communications, 2013, v. 4, n. 11, p. 2771, doi. 10.1038/ncomms3771
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- Publication type:
- Article
Loss of GPR3 reduces the amyloid plaque burden and improves memory in Alzheimer’s disease mouse models.
- Published in:
- Science Translational Medicine, 2015, v. 7, n. 309, p. 1, doi. 10.1126/scitranslmed.aab3492
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- Publication type:
- Article
Gene expression changes with age in skin, adipose tissue, blood and brain.
- Published in:
- Genome Biology, 2013, v. 14, n. 7, p. R75, doi. 10.1186/gb-2013-14-7-r75
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- Publication type:
- Article
CLN3 transcript complexity revealed by long-read RNA sequencing analysis.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02017-z
- By:
- Publication type:
- Article
Genome‐Wide Analysis of Structural Variants in Parkinson Disease.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 5, p. 1012, doi. 10.1002/ana.26608
- By:
- Publication type:
- Article
Heritability Enrichment Implicates Microglia in Parkinson's Disease Pathogenesis.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 5, p. 942, doi. 10.1002/ana.26032
- By:
- Publication type:
- Article
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
- Published in:
- 2019
- By:
- Publication type:
- journal article