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C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia.
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- Movement Disorders, 2012, v. 27, n. 14, p. 1835, doi. 10.1002/mds.25245
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- Article
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
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- Movement Disorders, 2012, v. 27, n. 3, p. 442, doi. 10.1002/mds.24064
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- Article
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders.
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- Nature Reviews Genetics, 2015, v. 16, n. 8, p. 441, doi. 10.1038/nrg3934
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- Article
Prevalent Iron Metabolism Gene Variants Associated with Increased Brain Ferritin Iron in Healthy Older Men.
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- Journal of Alzheimer's Disease, 2010, v. 20, n. 1, p. 333, doi. 10.3233/JAD-2010-1368
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- Article
VoICE: A semi-automated pipeline for standardizing vocal analysis across models.
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- Scientific Reports, 2015, p. 10237, doi. 10.1038/srep10237
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- Article
Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome.
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- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00460-8
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- Article
Human in vitro models for understanding mechanisms of autism spectrum disorder.
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- Molecular Autism, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13229-020-00332-7
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- Article
CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes.
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- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0278-0
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- Article
Autism genetics: searching for specificity and convergence.
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- Genome Biology, 2012, v. 13, n. 7, p. 247, doi. 10.1186/gb-2012-13-7-247
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- Article
Characterization of Gene Regulatory Elements in Human Fetal Cortical Development: Enhancing Our Understanding of Neurodevelopmental Disorders and Evolution.
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- Developmental Neuroscience, 2024, v. 46, n. 2, p. 69, doi. 10.1159/000530929
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- Article
Sumoylated MEF2A Coordinately Eliminates Orphan Presynaptic Sites and Promotes Maturation of Presynaptic Boutons.
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- Journal of Neuroscience, 2013, v. 33, n. 11, p. 4726, doi. 10.1523/JNEUROSCI.4191-12.2013
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- Article
The Disruption of Celf6y a Gene Identified by Translational Profiling of Serotonergic Neurons, Results in Autism-Related Behaviors.
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- Journal of Neuroscience, 2013, v. 33, n. 7, p. 2732, doi. 10.1523/JNEUROSCI.4762-12.2013
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- Article
Inflammatory Mediators Alter the Astrocyte Transcriptome and Calcium Signaling Elicited by Multiple G-Protein-Coupled Receptors.
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- Journal of Neuroscience, 2012, v. 32, n. 42, p. 14489, doi. 10.1523/JNEUROSCI.1256-12.2012
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- Article
Regulation of MET by FOXP2, Genes Implicated in Higher Cognitive Dysfunction and Autism Risk.
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- Journal of Neuroscience, 2011, v. 31, n. 32, p. 11437, doi. 10.1523/JNEUROSCI.0181-11.2011
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- Article
Mithramycin Is a Gene-Selective Sp1 Inhibitor That Identifies a Biological Intersection between Cancer and Neurodegeneration.
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- Journal of Neuroscience, 2011, v. 31, n. 18, p. 6858, doi. 10.1523/JNEUROSCI.0710-11.2011
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- Article
A Systems Level Analysis of Transcriptional Changes in Alzheimer's Disease and Normal Aging.
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- Journal of Neuroscience, 2008, v. 28, n. 6, p. 1410, doi. 10.1523/JNEUROSCI.4098-07.2008
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- Article
Small Molecule Activation of Adaptive Gene Expression.
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- Annals of the New York Academy of Sciences, 2008, v. 1147, p. 383, doi. 10.1196/annals.1427.033
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Explaining human uniqueness: genome interactions with environment, behaviour and culture.
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- 2008
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- journal article
Single-strand break repair and genetic disease.
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- 2008
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- journal article
Advances in autism genetics: on the threshold of a new neurobiology.
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- 2008
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- journal article
Human brain evolution: insights from microarrays.
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- Nature Reviews Genetics, 2004, v. 5, n. 11, p. 850, doi. 10.1038/nrg1469
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- Article
Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation.
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- Journal of Cell Biology, 2005, v. 170, n. 3, p. 413, doi. 10.1083/jcb.200412115
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- Article
Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders.
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- 2022
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- journal article
Subtraction-coupled Custom Microarray Analysis for Gene Discovery and Gene Expression Studies in the CNS.
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- Chemical Senses, 2002, v. 27, n. 3, p. 293, doi. 10.1093/chemse/27.3.293
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- Article
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
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- Human Molecular Genetics, 2014, v. 23, n. 18, p. 4758, doi. 10.1093/hmg/ddu190
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- Article
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.
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- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4171, doi. 10.1093/hmg/dds240
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- Article
In vivo cell-autonomous transcriptional abnormalities revealed in mice expressing mutant huntingtin in striatal but not cortical neurons.
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- Human Molecular Genetics, 2011, v. 20, n. 6, p. 1049, doi. 10.1093/hmg/ddq548
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- Article
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia.
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- Human Molecular Genetics, 2009, v. 18, n. 13, p. 2452, doi. 10.1093/hmg/ddp183
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- Article
Association of common variants in the Joubert syndrome gene (AHI1) with autism.
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- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3887, doi. 10.1093/hmg/ddn291
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- Article
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways†.
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- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1682, doi. 10.1093/hmg/ddm116
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- Article
High density SNP association study of a major autism linkage region on chromosome 17.
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- Human Molecular Genetics, 2007, v. 16, n. 6, p. 704, doi. 10.1093/hmg/ddm015
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- Article
Genetic Analysis of Anterior–Posterior Expression Gradients in the Developing Mammalian Forebrain.
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- Cerebral Cortex, 2007, v. 17, n. 9, p. 2108, doi. 10.1093/cercor/bhl118
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- Article
Genetic architecture of epigenetic and neuronal ageing rates in human brain regions.
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- Nature Communications, 2017, v. 8, n. 5, p. 15353, doi. 10.1038/ncomms15353
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- Article
Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders.
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- Nature Communications, 2016, v. 7, n. 2, p. 10717, doi. 10.1038/ncomms10717
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- Article
Evolutionary conservation and divergence of the human brain transcriptome.
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- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-020-02257-z
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- Article
Evolutionary conservation and divergence of the human brain transcriptome.
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- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-020-02257-z
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- Article
Brief Report: Under-Representation of African Americans in Autism Genetic Research: A Rationale for Inclusion of Subjects Representing Diverse Family Structures.
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- Journal of Autism & Developmental Disorders, 2010, v. 40, n. 5, p. 633, doi. 10.1007/s10803-009-0905-2
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- Article
Working memory and relational reasoning in Klinefelter syndrome.
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- Journal of the International Neuropsychological Society, 2003, v. 9, n. 6, p. 839, doi. 10.1017/s1355617703960036
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- Article
Identification of a Hoxd10-regulated transcriptional network and combinatorial interactions with Hoxa10 during spinal cord development.
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- Journal of Neuroscience Research, 2004, v. 75, n. 3, p. 307, doi. 10.1002/jnr.10844
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- Article
Impact of autism genetic risk on brain connectivity: a mechanism for the female protective effect.
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- 2022
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- journal article
A neurogenetic analysis of female autism.
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- 2021
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- journal article
A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction.
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- 2017
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- journal article
Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia.
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- 2016
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- Publication type:
- journal article
Network Connectivity Alterations across the MAPT Mutation Clinical Spectrum.
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- Annals of Neurology, 2023, v. 94, n. 4, p. 632, doi. 10.1002/ana.26738
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- Article
Tuberous sclerosis complex is associated with a novel human tauopathy.
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- Acta Neuropathologica, 2023, v. 145, n. 1, p. 1, doi. 10.1007/s00401-022-02521-5
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- Article
Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology.
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- Acta Neuropathologica, 2019, v. 137, n. 1, p. 27, doi. 10.1007/s00401-018-1942-8
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- Article
Neuroscience: Genes and human brain evolution.
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- Nature, 2012, v. 486, n. 7404, p. 481, doi. 10.1038/nature11380
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- Article
Transcriptomic analysis of autistic brain reveals convergent molecular pathology.
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- Nature, 2011, v. 474, n. 7351, p. 380, doi. 10.1038/nature10110
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- Article
Human-specific transcriptional regulation of CNS development genes by FOXP2.
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- Nature, 2009, v. 462, n. 7270, p. 213, doi. 10.1038/nature08549
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Neuroscience in the era of functional genomics and systems biology.
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- Nature, 2009, v. 461, n. 7266, p. 908, doi. 10.1038/nature08537
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- Article