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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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- Article
Development of trofinetide for the treatment of Rett syndrome: from bench to bedside.
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- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2023.1341746
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- Article
In Memoriam: Folker Hanefeld, MD, PhD, June 28, 1937–May 9, 2022.
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- Journal of Child Neurology, 2022, v. 37, n. 10/11, p. 889, doi. 10.1177/08830738221116242
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- Article
MeCP2 Is Critical within HoxB1-Derived Tissues of Mice for Normal Lifespan.
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- Journal of Neuroscience, 2011, v. 31, n. 28, p. 10359, doi. 10.1523/JNEUROSCI.0057-11.2011
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- Article
Complexities of Rett Syndrome and MeCP2.
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- Journal of Neuroscience, 2011, v. 31, n. 22, p. 7951, doi. 10.1523/JNEUROSCI.0169-11.2011
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- Article
Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2662, doi. 10.1093/hmg/ddv030
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- Article
Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function.
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- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2626, doi. 10.1093/hmg/ddt111
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- Article
Female Mecp2+/− mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.
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- Human Molecular Genetics, 2013, v. 22, n. 1, p. 96, doi. 10.1093/hmg/dds406
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- Article
A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1718, doi. 10.1093/hmg/ddn062
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- Article
Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms.
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- Autism Research: Official Journal of the International Society for Autism Research, 2018, v. 11, n. 2, p. 212, doi. 10.1002/aur.1903
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- Article
Longitudinal course of epilepsy in Rett syndrome and related disorders.
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- 2017
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- journal article
Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders.
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- Annals of Neurology, 2024, v. 96, n. 1, p. 175, doi. 10.1002/ana.26948
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- Article
Multisite Study of Evoked Potentials in Rett Syndrome.
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- 2021
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- journal article
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
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- 2020
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- journal 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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- Article
Loss of MeCP2 Function Across Several Neuronal Populations Impairs Breathing Response to Acute Hypoxia.
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- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.593554
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- Publication type:
- Article
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome.
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- Genes, 2024, v. 15, n. 5, p. 594, doi. 10.3390/genes15050594
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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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- Article
The array of clinical phenotypes of males with mutations in Methyl‐CpG binding protein 2.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 1, p. 55, doi. 10.1002/ajmg.b.32707
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- Article
Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage.
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- Neuropsychiatric Disease & Treatment, 2022, v. 18, p. 2813, doi. 10.2147/NDT.S371483
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- Article
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
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- Clinical Genetics, 2019, v. 95, n. 5, p. 575, doi. 10.1111/cge.13521
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- Article
Progressive Changes in a Distributed Neural Circuit Underlie Breathing Abnormalities in Mice Lacking MeCP2.
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- Journal of Neuroscience, 2016, v. 36, n. 20, p. 5572, doi. 10.1523/JNEUROSCI.2330-15.2016
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- Article
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study.
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- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09502-z
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- Article
Comparison of evoked potentials across four related developmental encephalopathies.
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- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09479-9
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- Article
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study.
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- Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09432-2
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- Article
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
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- Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09384-z
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- Article
Development of an adapted Clinical Global Impression scale for use in Angelman syndrome.
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- Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-020-09349-8
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- Article
Cortisol profiles and clinical severity in MECP2 duplication syndrome.
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- Journal of Neurodevelopmental Disorders, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s11689-020-09322-5
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- Article
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03313-8
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- Publication type:
- Article
Overexpression of Methyl-CpG Binding Protein 2 Impairs T<sub>H</sub>1 Responses.
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- Science Translational Medicine, 2012, v. 4, n. 163, p. 1, doi. 10.1126/scitranslmed.3004430
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- Article
Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome.
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- Science Translational Medicine, 2011, v. 3, n. 113, p. 1, doi. 10.1126/scitranslmed.3002982
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- Article
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials.
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- 2020
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- Publication type:
- journal article
Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder.
- Published in:
- Brain Communications, 2022, v. 4, n. 4, p. 1, doi. 10.1093/braincomms/fcac197
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- Article
Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.
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- PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0165550
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- Article
Unfolding neurodevelopmental disorders: The mystery of developing connections.
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- Nature Medicine, 2011, v. 17, n. 11, p. 1353, doi. 10.1038/nm.2552
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- Article
Mutual antagonism between Sox10 and NFIA regulates diversification of glial lineages and glioma subtypes.
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- Nature Neuroscience, 2014, v. 17, n. 10, p. 1322, doi. 10.1038/nn.3790
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- Article
Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome.
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- Human Molecular Genetics, 2020, v. 29, n. 15, p. 2461, doi. 10.1093/hmg/ddaa102
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- Article
Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis.
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- Human Molecular Genetics, 2016, v. 25, n. 22, p. 4983, doi. 10.1093/hmg/ddw326
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- Article
Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3284, doi. 10.1093/hmg/ddw178
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- Publication type:
- Article
Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09557-6
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- Publication type:
- Article
A clinical-translational review of sleep problems in neurodevelopmental disabilities.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09559-4
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- Article
Parental age effects and Rett syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 160, doi. 10.1002/ajmg.a.63396
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- Article
Phenotypic features in MECP2 duplication syndrome: Effects of age.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 362, doi. 10.1002/ajmg.a.61956
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- Article
Erratum to 'Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome', Am J Med Genet Part A 161A:1638-1646.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1346, doi. 10.1002/ajmg.a.36493
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- Article
Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.
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- Frontiers in Integrative Neuroscience, 2020, p. 1, doi. 10.3389/fnint.2020.00007
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- Article
Rett syndrome diagnostic criteria: Lessons from the Natural History Study.
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- Annals of Neurology, 2010, v. 68, n. 6, p. 951, doi. 10.1002/ana.22154
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- Article
Rett syndrome: Revised diagnostic criteria and nomenclature.
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- Annals of Neurology, 2010, v. 68, n. 6, p. 944, doi. 10.1002/ana.22124
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- Publication type:
- Article
Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome.
- Published in:
- Genes, Brain & Behavior, 2022, v. 21, n. 1, p. 1, doi. 10.1111/gbb.12739
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- Publication type:
- Article
Analysis of X‐inactivation status in a Rett syndrome natural history study cohort.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1917
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- Publication type:
- Article
Rett Syndrome: A Prototypical Neurodevelopmental Disorder.
- Published in:
- Neuroscientist, 2004, v. 10, n. 2, p. 118, doi. 10.1177/1073858403260995
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- Publication type:
- Article