Works matching DE "RETT syndrome"
Results: 1286
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 (Communicated by Jurgen Horst) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html).
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- Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243
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- Article
Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome (Communicated by Haig H. Kazazian).
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- Human Mutation, 2003, v. 22, n. 2, p. 116, doi. 10.1002/humu.10242
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- Article
Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndromeCommunicated by Haig H. Kazazian.
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- Human Mutation, 2003, v. 22, n. 2, p. 116, doi. 10.1002/humu.10242
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- Publication type:
- Article
Mutations and polymorphisms in the human methyl CpG?binding protein MECP2Communicated by Jurgen HorstThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html.
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- Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243
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- Article
RettBASE: The IRSA MECP2 variation databasea new mutation database in evolution (Communicated by Jaime Cuticchia).
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- Human Mutation, 2003, v. 21, n. 5, p. 466, doi. 10.1002/humu.10194
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- Article
RettBASE: The IRSA MECP2 variation database—a new mutation database in evolutionCommunicated by Jaime Cuticchia.
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- Human Mutation, 2003, v. 21, n. 5, p. 466, doi. 10.1002/humu.10194
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- Article
Annual Injection of Zoledronic Acid Improves Bone Status in Children with Cerebral Palsy and Rett Syndrome.
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- 2019
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- Publication type:
- journal article
A Comparative Study of Dual-X-ray Absorptiometry and Quantitative Ultrasonography for the Evaluating Bone Status in Subjects with Rett Syndrome.
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- Calcified Tissue International, 2014, v. 95, n. 3, p. 248, doi. 10.1007/s00223-014-9888-x
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- Article
Pathology of perinatal brain damage: background and oxidative stress markers.
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- Archives of Gynecology & Obstetrics, 2014, v. 290, n. 1, p. 13, doi. 10.1007/s00404-014-3208-6
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- Article
Microglia as a critical player in both developmental and late-life CNS pathologies.
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- Acta Neuropathologica, 2014, v. 128, n. 3, p. 333, doi. 10.1007/s00401-014-1321-z
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- Article
Neurotrophic effects of Cerebrolysin in the Mecp2<sup>308/Y</sup> transgenic model of Rett syndrome.
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- Acta Neuropathologica, 2008, v. 116, n. 4, p. 425, doi. 10.1007/s00401-008-0407-x
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- Article
Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice.
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- Nature, 2015, v. 526, n. 7573, p. 430, doi. 10.1038/nature15694
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- Article
Cognitive disorders: Deep brain stimulation for Rett syndrome.
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- Nature, 2015, v. 526, n. 7573, p. 331, doi. 10.1038/526331a
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- Article
Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.
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- 2015
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- Correction Notice
Disruption of DNA-methylation-dependent long gene repression in Rett syndrome.
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- Nature, 2015, v. 522, n. 7554, p. 89, doi. 10.1038/nature14319
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- Article
Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.
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- Nature, 2015, v. 521, n. 7552, p. E1, doi. 10.1038/nature14444
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- Article
Wild-type microglia arrest pathology in a mouse model of Rett syndrome.
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- Nature, 2012, v. 484, n. 7392, p. 105, doi. 10.1038/nature10907
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- Article
A role for glia in the progression of Rett's syndrome.
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- Nature, 2011, v. 475, n. 7357, p. 497, doi. 10.1038/nature10214
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- Article
A Meta-analysis of Syndromic Autism Genes.
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- International Journal of High School Research, 2023, v. 5, n. 4, p. 134, doi. 10.36838/v5i4.23
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- Article
Defining Autism Spectrum Disorders.
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- 2009
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- Publication type:
- Journal Article
Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor.
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- Neuropsychopharmacology, 2014, v. 39, n. 12, p. 2846, doi. 10.1038/npp.2014.136
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- Article
Pharmacological Stimulation of the Brain Serotonin Receptor 7 as a Novel Therapeutic Approach for Rett Syndrome.
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- Neuropsychopharmacology, 2014, v. 39, n. 11, p. 2506, doi. 10.1038/npp.2014.105
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- Article
The Impact of MeCP2 Loss- or Gain-of-Function on Synaptic Plasticity.
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- Neuropsychopharmacology, 2013, v. 38, n. 1, p. 212, doi. 10.1038/npp.2012.116
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- Article
Modulation of RhoGTPases Improves the Behavioral Phenotype and Reverses Astrocytic Deficits in a Mouse Model of Rett Syndrome.
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- Neuropsychopharmacology, 2012, v. 37, n. 5, p. 1152, doi. 10.1038/npp.2011.301
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- Article
CRISPR/Cas9 genome editing clinical trials for neurodevelopmental disorders.
- Published in:
- 2024
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- Abstract
P-711 - Genetic syndromes and the autism spectrum
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- 2012
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- Abstract
Rett syndrome in adults with severe intellectual disability: Exploration of behavioral characteristics
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- European Psychiatry, 2008, v. 23, n. 6, p. 460, doi. 10.1016/j.eurpsy.2007.11.008
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- Article
Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study.
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- Sultan Qaboos University Medical Journal, 2018, v. 18, n. 4, p. e489, doi. 10.18295/squmj.2018.18.04.010
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- Article
Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism.
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- 2015
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- Publication type:
- journal article
Kronične promjene plućnog parenhima u djevojčice s Rettovim sindromom.
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- Paediatria Croatica, 2020, v. 64, n. 3, p. 207, doi. 10.13112/pc.418
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- Article
Distinctive phenotype in a girl with Rett syndrome and a novel 25 bp deletion mutation in exon 4 (c.881_905del25, nm_004992.3) of the MECP2 gene.
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- 2014
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- Publication type:
- Case Study
Co-Occurring Methylenetetrahydrofolate Reductase (MTHFR) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome.
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- Brain Sciences (2076-3425), 2024, v. 14, n. 7, p. 624, doi. 10.3390/brainsci14070624
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- Article
Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials.
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- Brain Sciences (2076-3425), 2024, v. 14, n. 2, p. 120, doi. 10.3390/brainsci14020120
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- Article
Functional Network Mapping Reveals State-Dependent Response to IGF1 Treatment in Rett Syndrome.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 8, p. 515, doi. 10.3390/brainsci10080515
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- Article
Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 7, p. 410, doi. 10.3390/brainsci10070410
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- Article
Effects of Combined Transcranial Direct Current Stimulation with Cognitive Training in Girls with Rett Syndrome.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 5, p. 276, doi. 10.3390/brainsci10050276
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- Article
Boosting Serotonin Synthesis Is Not Sufficient to Improve Motor Coordination of Mecp2 Heterozygous Mouse Model of Rett Syndrome.
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- Biomolecules (2218-273X), 2024, v. 14, n. 10, p. 1230, doi. 10.3390/biom14101230
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- Article
Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact.
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- Biomolecules (2218-273X), 2024, v. 14, n. 4, p. 505, doi. 10.3390/biom14040505
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- Article
Blood–Brain Barrier Integrity Is Perturbed in a Mecp2 -Null Mouse Model of Rett Syndrome.
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- Biomolecules (2218-273X), 2023, v. 13, n. 4, p. 606, doi. 10.3390/biom13040606
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- Article
Parent Reading Behaviors and Communication Outcomes in Girls With Rett Syndrome.
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- Exceptional Children, 2004, v. 70, n. 2, p. 145, doi. 10.1177/001440290407000202
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- Article
Aberrantly High Levels of Somatic LINE-1 Expression and Retrotransposition in Human Neurological Disorders.
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- Frontiers in Genetics, 2020, v. 10, p. 1, doi. 10.3389/fgene.2019.01244
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- Publication type:
- Article
Efficient and Precise CRISPR/Cas9-Mediated MECP2 Modifications in Human-Induced Pluripotent Stem Cells.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00625
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- Article
Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00059
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- Publication type:
- Article
Child and adolescent psychiatric genetics.
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- European Child & Adolescent Psychiatry, 2010, v. 19, n. 3, p. 259, doi. 10.1007/s00787-010-0091-y
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- Publication type:
- Article
MECP2 mutation screening in Swedish classical Rett syndrome females.
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- European Child & Adolescent Psychiatry, 2001, v. 10, n. 2, p. 117, doi. 10.1007/s007870170034
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- Article
Assessing the developmental level in Rett syndrome: an alternative approach?
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- European Child & Adolescent Psychiatry, 2000, v. 9, n. 3, p. 227, doi. 10.1007/s007870070047
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- Publication type:
- Article
Rett syndrome, EEG and the motor cortex as a model for better understanding of attention deficit hyperactivity disorder (ADHD).
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- European Child & Adolescent Psychiatry, 1998, v. 7, n. 2, p. 69, doi. 10.1007/s007870050049
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- Article
Lamotrigine in Rett syndrome: Treatment experience from a pilot study.
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- European Child & Adolescent Psychiatry, 1998, v. 7, n. 1, p. 49, doi. 10.1007/s007870050045
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- Article
Hyperkalemic distal renal tubular acidosis associated with Rett syndrome.
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- Pediatric Nephrology, 2006, v. 21, n. 4, p. 588, doi. 10.1007/s00467-006-0029-2
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- Publication type:
- Article
Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study.
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- Oral Diseases, 2023, v. 29, n. 1, p. 220, doi. 10.1111/odi.13924
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- Publication type:
- Article