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Bone health in children with Angelman syndrome at the ENCORE Expertise Center.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 1, p. 103, doi. 10.1007/s00431-023-05231-6
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- Publication type:
- Article
Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 18, p. 5981, doi. 10.3390/jcm12185981
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- Publication type:
- Article
The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 303, doi. 10.3390/ijms24010303
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- Publication type:
- Article
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.
- Published in:
- 2022
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- Publication type:
- Editorial
Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome.
- Published in:
- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02206-3
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- Publication type:
- Article
Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.852208
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- Publication type:
- Article
A Novel Automated Approach for Improving Standardization of the Marble Burying Test Enables Quantification of Burying Bouts and Activity Characteristics.
- Published in:
- eNeuro, 2022, v. 9, n. 2, p. 1, doi. 10.1523/ENEURO.0446-21.2022
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- Publication type:
- Article
Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1.
- Published in:
- Journal of Attention Disorders, 2022, v. 26, n. 4, p. 563, doi. 10.1177/10870547211012035
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- Publication type:
- Article
MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders.
- Published in:
- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00458-2
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- Publication type:
- Article
UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.
- Published in:
- PLoS Biology, 2021, v. 19, n. 5, p. 1, doi. 10.1371/journal.pbio.3001279
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- Publication type:
- Article
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 430, doi. 10.1093/hmg/ddab050
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- Publication type:
- Article
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82319-9
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- Publication type:
- Article
Unlike dietary restriction, rapamycin fails to extend lifespan and reduce transcription stress in progeroid DNA repair‐deficient mice.
- Published in:
- Aging Cell, 2021, v. 20, n. 2, p. 1, doi. 10.1111/acel.13302
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- Publication type:
- Article
Clinical aspects of a large group of adults with Angelman syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 168, doi. 10.1002/ajmg.a.61940
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- Publication type:
- Article
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1481
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- Publication type:
- Article
Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3032, doi. 10.1093/hmg/ddaa194
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- Publication type:
- Article
Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome.
- Published in:
- Molecular Autism, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13229-020-00376-9
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- Publication type:
- Article
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
- Published in:
- Frontiers in Molecular Neuroscience, 2020, v. 13, p. 1, doi. 10.3389/fnmol.2020.00012
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- Publication type:
- Article
Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 476, doi. 10.1002/humu.23945
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- Publication type:
- Article
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 53, doi. 10.1002/ajmg.a.61382
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- Publication type:
- Article
The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons.
- Published in:
- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0293-1
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- Publication type:
- Article
CAMK2-Dependent Signaling in Neurons Is Essential for Survival.
- Published in:
- Journal of Neuroscience, 2019, v. 39, n. 28, p. 5424, doi. 10.1523/JNEUROSCI.1341-18.2019
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- Publication type:
- Article
Effects of antiepileptic drugs in a new TSC/mTOR‐dependent epilepsy mouse model.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1273, doi. 10.1002/acn3.50829
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- Publication type:
- Article
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1091, doi. 10.1002/ajmg.a.61125
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- Publication type:
- Article
From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1098, doi. 10.1002/ajmg.a.61112
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- Publication type:
- Article
Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes.
- Published in:
- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0277-1
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- Publication type:
- Article
Cover Image, Volume 39, Issue 12.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. i, doi. 10.1002/humu.23687
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- Publication type:
- Article
The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 2008, doi. 10.1002/humu.23647
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- Publication type:
- Article
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants.
- Published in:
- Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0231-7
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- Publication type:
- Article
Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome.
- Published in:
- Journal of Neuroscience, 2018, v. 38, n. 37, p. 8011, doi. 10.1523/JNEUROSCI.0083-18.2018
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- Publication type:
- Article
Enhanced Transmission at the Calyx of Held Synapse in a Mouse Model for Angelman Syndrome.
- Published in:
- Frontiers in Cellular Neuroscience, 2018, p. 1, doi. 10.3389/fncel.2017.00418
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- Publication type:
- Article
Modulation of Murine Olivary Connexin 36 Gap Junctions by PKA and CaMKII.
- Published in:
- Frontiers in Cellular Neuroscience, 2017, p. 1, doi. 10.3389/fncel.2017.00397
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- Publication type:
- Article
A brain proteomic investigation of rapamycin effects in the Tsc1<sup>+/-</sup> mouse model.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0151-y
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- Publication type:
- Article
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1959, doi. 10.1002/ajmg.a.37723
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- Publication type:
- Article
The molecular, temporal and region-specific requirements of the beta isoform of Calcium/Calmodulin-dependent protein kinase type 2 (CAMK2B) in mouse locomotion.
- Published in:
- Scientific Reports, 2016, p. 26989, doi. 10.1038/srep26989
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- Publication type:
- Article
An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 1, p. 1, doi. 10.1093/hmg/ddv436
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- Publication type:
- Article
Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model.
- Published in:
- 2015
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- Publication type:
- journal article
PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex.
- Published in:
- Scientific Reports, 2015, p. 14534, doi. 10.1038/srep14534
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- Publication type:
- Article
Neurodevelopmental disease: A molecular tightrope.
- Published in:
- Nature, 2015, v. 526, n. 7571, p. 50, doi. 10.1038/526050b
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- Publication type:
- Article
Treatment of Cognitive Deficits in Genetic Disorders.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 9, p. 1052, doi. 10.1001/jamaneurol.2015.0443
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- Publication type:
- Article
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1741, doi. 10.1002/ajmg.a.37089
- By:
- Publication type:
- Article
In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome.
- Published in:
- Frontiers in Cellular Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fncel.2015.00234
- By:
- Publication type:
- Article
Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3390, doi. 10.1093/hmg/ddv087
- By:
- Publication type:
- Article
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 5, p. 2069, doi. 10.1172/JCI80554
- By:
- Publication type:
- Article
Conditional Deletion of α-CaMKII Impairs Integration of Adult-Generated Granule Cells into Dentate Gyrus Circuits and Hippocampus-Dependent Learning.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 36, p. 11919, doi. 10.1523/JNEUROSCI.0652-14.2014
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- Publication type:
- Article
Temporal and Region-Specific Requirements of aCaMKII in Spatial and Contextual Learning.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 34, p. 11180, doi. 10.1523/JNEUROSCI.0640-14.2014
- By:
- Publication type:
- Article
Interaction of SH-SY5Y Cells with Nanogratings During Neuronal Differentiation: Comparison with Primary Neurons.
- Published in:
- Advanced Healthcare Materials, 2014, v. 3, n. 4, p. 581, doi. 10.1002/adhm.201300216
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- Publication type:
- Article
Treatment of intractable epilepsy in tuberous sclerosis complex with everolimus is not yet evidence-based.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 1, p. 163, doi. 10.1002/ana.24047
- By:
- Publication type:
- Article
Mammalian Target of Rapamycin Complex I (mTORC1) Activity in Ras Homologue Enriched in Brain (Rheb)-Deficient Mouse Embryonic Fibroblasts.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0081649
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- Publication type:
- Article