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The role of LANP and ataxin 1 in E4F-mediated transcriptional repression.
- Published in:
- EMBO Reports, 2007, v. 8, n. 7, p. 671, doi. 10.1038/sj.embor.7400983
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- Publication type:
- Article
The Atoh1-Cre Knock-In Allele Ectopically Labels a Subpopulation of Amacrine Cells and Bipolar Cells in Mouse Retina.
- Published in:
- eNeuro, 2023, v. 10, n. 11, p. 1, doi. 10.1523/ENEURO.0307-23.2023
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- Article
MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.83806
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- Article
Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 583, p. 1, doi. 10.1126/scitranslmed.aaz7785
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- Article
An RNA interference screen identifies druggable regulators of MeCP2 stability.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 404, p. 1, doi. 10.1126/scitranslmed.aaf7588
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- Article
The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0166703
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- Publication type:
- Article
Learning and Memory and Synaptic Plasticity Are Impaired in a Mouse Model of Rett Syndrome.
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- Journal of Neuroscience, 2006, v. 26, n. 1, p. 319, doi. 10.1523/JNEUROSCI.2623-05.2006
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- Article
Recovery from Polyglutamine-Induced Neurodegeneration in Conditional SCA1 Transgenic Mice.
- Published in:
- Journal of Neuroscience, 2004, v. 24, n. 40, p. 8853, doi. 10.1523/JNEUROSCI.2978-04.2004
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- Publication type:
- Article
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
- Published in:
- Annals of Neurology, 2009, v. 66, n. 6, p. 771, doi. 10.1002/ana.21715
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- Article
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.
- Published in:
- Annals of Neurology, 2000, v. 47, n. 5, p. 670, doi. 10.1002/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F
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- Article
Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy.
- Published in:
- 1999
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- Publication type:
- journal article
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.
- Published in:
- Annals of Neurology, 1995, v. 38, n. 1, p. 68, doi. 10.1002/ana.410380113
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- Publication type:
- Article
Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone.
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- Annals of Neurology, 1994, v. 35, n. 4, p. 464, doi. 10.1002/ana.410350415
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- Publication type:
- Article
Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice.
- Published in:
- Nature, 2015, v. 526, n. 7573, p. 430, doi. 10.1038/nature15694
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- Publication type:
- Article
Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality.
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- Journal of Cell Biology, 2003, v. 163, n. 5, p. 1033, doi. 10.1083/jcb.200308164
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- Publication type:
- Article
Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity.
- Published in:
- eLife, 2018, p. 1, doi. 10.7554/eLife.34031.001
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- Publication type:
- Article
Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.31181.001
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- Article
TRIM28 regulates the nuclear accumulation and toxicity of both alpha- synuclein and tau.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.19809
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- Article
Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.14199
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- Publication type:
- Article
Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.14198
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- Publication type:
- Article
Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.10891
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- Publication type:
- Article
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.10782
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- Publication type:
- Article
A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.07558
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- Publication type:
- Article
Deep Brain Stimulation for Parkinson Disease.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 3, p. 259, doi. 10.1001/jamaneurol.2014.4109
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- Publication type:
- Article
PolyA-miner: accurate assessment of differential alternative poly-adenylation from 3′Seq data using vector projections and non-negative matrix factorization.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 12, p. e69, doi. 10.1093/nar/gkaa398
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- Publication type:
- Article
Loss of MeCP2 Function Across Several Neuronal Populations Impairs Breathing Response to Acute Hypoxia.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.593554
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- Article
Glutamine-Expanded Ataxin-7 Alters TFTC/STAGA Recruitment and Chromatin Structure Leading to Photoreceptor Dysfunction.
- Published in:
- PLoS Biology, 2006, v. 4, n. 3, p. 432, doi. 10.1371/journal.pbio.0040067
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- Article
MeCP2: only 100% will do.
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- Nature Neuroscience, 2012, v. 15, n. 2, p. 176, doi. 10.1038/nn.3027
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- Article
Rett syndrome: what do we know for sure?
- Published in:
- Nature Neuroscience, 2009, v. 12, n. 3, p. 239, doi. 10.1038/nn0309-239
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- Publication type:
- Article
miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis.
- Published in:
- Nature Neuroscience, 2008, v. 11, n. 10, p. 1137, doi. 10.1038/nn.2183
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- Article
Huntingtin's critical cleavage.
- Published in:
- Nature Neuroscience, 2006, v. 9, n. 9, p. 1088, doi. 10.1038/nn0906-1088
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- Publication type:
- Article
Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.
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- Nature Neuroscience, 2000, v. 3, n. 2, p. 157, doi. 10.1038/72101
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- Article
Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.
- Published in:
- 2019
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- Publication type:
- journal article
CRISPRcloud: a secure cloud-based pipeline for CRISPR pooled screen deconvolution.
- Published in:
- Bioinformatics, 2017, v. 33, n. 18, p. 2963, doi. 10.1093/bioinformatics/btx335
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- Article
The CAG/Polyglutamine Tract Diseases: Gene Products and Molecular Pathogenesis.
- Published in:
- Brain Pathology, 1997, v. 7, n. 3, p. 927, doi. 10.1111/j.1750-3639.1997.tb00894.x
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- Publication type:
- Article
Ataxin1L Is a Regulator of HSC Function Highlighting the Utility of Cross-Tissue Comparisons for Gene Discovery.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 3, p. 1, doi. 10.1371/journal.pgen.1003359
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- Article
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
- Published in:
- Nature, 2013, v. 503, n. 7474, p. 72, doi. 10.1038/nature12630
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- Article
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.
- Published in:
- Nature, 2010, v. 468, n. 7321, p. 263, doi. 10.1038/nature09582
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- Publication type:
- Article
Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice.
- Published in:
- Mammalian Genome, 2001, v. 12, n. 10, p. 796, doi. 10.1007/s00335-001-1006-5
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- Article
Maturation of Purkinje cell firing properties relies on neurogenesis of excitatory neurons.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.68045
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- Article
Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.64833
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- Publication type:
- Article
Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5083, doi. 10.1093/hmg/ddw337
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- Article
Rett syndrome: disruption of epigenetic control of postnatal neurological functions.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 20, p. R10, doi. 10.1093/hmg/ddv217
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- Article
Fragile X-like behaviors and abnormal cortical dendritic spines Cytoplasmic FMR1-interacting protein 2-mutant mice.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 7, p. 1813, doi. 10.1093/hmg/ddu595
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- Publication type:
- Article
Female Mecp2+/− mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 96, doi. 10.1093/hmg/dds406
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- Publication type:
- Article
Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 394, doi. 10.1093/hmg/ddr474
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- Publication type:
- Article
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
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- Human Molecular Genetics, 2011, v. 20, n. 17, p. 3366, doi. 10.1093/hmg/ddr243
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- Publication type:
- Article
Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 11, p. 2204, doi. 10.1093/hmg/ddr108
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- Publication type:
- Article
Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 3, p. 510, doi. 10.1093/hmg/ddq496
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- Publication type:
- Article
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 13, p. 2431, doi. 10.1093/hmg/ddp181
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- Publication type:
- Article