Found: 18
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Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1107, doi. 10.3390/genes15081107
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- Publication type:
- Article
Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial.
- Published in:
- Diabetes, Obesity & Metabolism, 2017, v. 19, n. 12, p. 1751, doi. 10.1111/dom.13021
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- Publication type:
- Article
Loss of mTORC2 signaling in oligodendrocyte precursor cells delays myelination.
- Published in:
- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0188417
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- Publication type:
- Article
Conditional and domain-specific inactivation of the Tsc2 gene in neural progenitor cells.
- Published in:
- Genesis: The Journal of Genetics & Development, 2013, v. 51, n. 4, p. 284, doi. 10.1002/dvg.22377
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- Publication type:
- Article
Deletion of Rictor in neural progenitor cells reveals contributions of mTORC2 signaling to tuberous sclerosis complex.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 140, doi. 10.1093/hmg/dds414
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- Publication type:
- Article
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
- Published in:
- 2020
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- Publication type:
- journal article
Hypomyelination following deletion of Tsc2 in oligodendrocyte precursors.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 12, p. 1041, doi. 10.1002/acn3.254
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- Publication type:
- Article
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 5, p. 575, doi. 10.1111/cge.13521
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- Publication type:
- Article
GABAergic Interneuron Development and Function Is Modulated by the Tsc1 Gene.
- Published in:
- Cerebral Cortex, 2012, v. 22, n. 9, p. 2111, doi. 10.1093/cercor/bhr300
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- Publication type:
- Article
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study.
- Published in:
- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09502-z
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- Publication type:
- Article
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
- Published in:
- Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09384-z
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- Publication type:
- Article
Cortisol profiles and clinical severity in MECP2 duplication syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s11689-020-09322-5
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- Publication type:
- Article
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials.
- Published in:
- 2020
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- Publication type:
- journal article
Feasibility of wearable devices and machine learning for sleep classification in children with Rett syndrome: A pilot study.
- Published in:
- Digital Health, 2023, p. 1, doi. 10.1177/20552076231191622
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- Publication type:
- Article
Feasibility of wearable devices and machine learning for sleep classification in children with Rett syndrome: A pilot study.
- Published in:
- Digital Health, 2023, v. 9, p. 1, doi. 10.1177/20552076231191622
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- Publication type:
- Article
Loss of KCC2 in GABAergic Neurons Causes Seizures and an Imbalance of Cortical Interneurons.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.826427
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- Publication type:
- Article
Phenotypic features in MECP2 duplication syndrome: Effects of age.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 362, doi. 10.1002/ajmg.a.61956
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- Publication type:
- Article
A randomized controlled trial of levodopa in patients with Angelman syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1099, doi. 10.1002/ajmg.a.38457
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- Publication type:
- Article