Works matching Rett syndrome
Results: 2257
Classical Rett Syndrome in a Ghanaian Child: A case report.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Functional Communication Training in Rett Syndrome: A Preliminary Study.
- Published in:
- American Journal on Intellectual & Developmental Disabilities, 2014, v. 119, n. 4, p. 340, doi. 10.1352/1944-7558-119.4.340
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- Publication type:
- Article
Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure.
- Published in:
- American Journal on Intellectual & Developmental Disabilities, 2023, v. 128, n. 3, p. 237, doi. 10.1352/1944-7558-128.3.237
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- Publication type:
- Article
The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study.
- Published in:
- Canadian Journal of Neurological Sciences, 2016, v. 43, n. 4, p. 567, doi. 10.1017/cjn.2016.8
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- Publication type:
- Article
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1157, doi. 10.3390/genes12081157
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- Publication type:
- Article
Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09575-4
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- Publication type:
- Article
Rett Syndrome: Prevalence Among Chinese and a Comparison of MECP2 Mutations of Classic Rett Syndrome With Other Neurodevelopmental Disorders.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 12, p. 1397, doi. 10.1177/0883073807307091
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- Publication type:
- Article
The Rett Syndrome Gross Motor Scale – Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett Syndrome.
- Published in:
- Developmental Neurorehabilitation, 2022, v. 25, n. 2, p. 133, doi. 10.1080/17518423.2021.1960920
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- Publication type:
- Article
FUNKCJONOWANIE RODZINY DZIECKA Z ZESPOŁEM RETTA ZE SZCZEGÓLNYM UWZGLĘDNIENIEM ROLI KOMUNIKACJI ALTERNATYWNEJ (AAC) - STUDIUM INDYWIDUALNEGO PRZYPADKU.
- Published in:
- Szkoła Specjalna, 2023, v. 84, n. 3, p. 219, doi. 10.5604/01.3001.0053.8981
- By:
- Publication type:
- Article
Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study.
- Published in:
- Journal of Developmental & Physical Disabilities, 2018, v. 30, n. 2, p. 281, doi. 10.1007/s10882-017-9585-6
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- Publication type:
- Article
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 10, p. 1437, doi. 10.3390/cells12101437
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- Publication type:
- Article
A Comparative Study of Dual-X-ray Absorptiometry and Quantitative Ultrasonography for the Evaluating Bone Status in Subjects with Rett Syndrome.
- Published in:
- Calcified Tissue International, 2014, v. 95, n. 3, p. 248, doi. 10.1007/s00223-014-9888-x
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- Publication type:
- Article
Rett syndrome in adults with severe intellectual disability: Exploration of behavioral characteristics
- Published in:
- European Psychiatry, 2008, v. 23, n. 6, p. 460, doi. 10.1016/j.eurpsy.2007.11.008
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- Publication type:
- Article
Kronične promjene plućnog parenhima u djevojčice s Rettovim sindromom.
- Published in:
- Paediatria Croatica, 2020, v. 64, n. 3, p. 207, doi. 10.13112/pc.418
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- Publication type:
- 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.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials.
- Published in:
- Brain Sciences (2076-3425), 2024, v. 14, n. 2, p. 120, doi. 10.3390/brainsci14020120
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- Publication type:
- Article
Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 7, p. 410, doi. 10.3390/brainsci10070410
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- Publication type:
- Article
Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00059
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- Publication type:
- Article
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 5, p. 594, doi. 10.3390/genes15050594
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- Publication type:
- Article
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1607, doi. 10.3390/genes14081607
- By:
- 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.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09557-6
- By:
- Publication type:
- Article
MECP2 mutations in Serbian Rett syndrome patients.
- Published in:
- Acta Neurologica Scandinavica, 2007, v. 116, n. 6, p. 413, doi. 10.1111/j.1600-0404.2007.00893.x
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- Publication type:
- Article
Developing a database for Rett syndrome research performed in the European Union: A resource for researchers and stakeholders.
- Published in:
- Child: Care, Health & Development, 2018, v. 44, n. 5, p. 794, doi. 10.1111/cch.12595
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- Publication type:
- Article
A qualitative investigation of recovery after femoral fracture in Rett syndrome.
- Published in:
- Child: Care, Health & Development, 2017, v. 43, n. 2, p. 232, doi. 10.1111/cch.12392
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- Publication type:
- Article
Spinal fusion in girls with Rett syndrome: post-operative recovery and family experiences.
- Published in:
- Child: Care, Health & Development, 2015, v. 41, n. 6, p. 1000, doi. 10.1111/cch.12243
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- Publication type:
- Article
Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes.
- Published in:
- Frontiers in Cellular Neuroscience, 2015, v. 8/9, p. 1, doi. 10.3389/fncel.2015.00055
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- Publication type:
- Article
Rett syndrome: from recognition to diagnosis to intervention.
- Published in:
- Expert Review of Endocrinology & Metabolism, 2008, v. 3, n. 3, p. 327, doi. 10.1586/17446651.3.3.327
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- Publication type:
- Article
Anti-Semaphorin 4D Rescues Motor, Cognitive, and Respiratory Phenotypes in a Rett Syndrome Mouse Model.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9465, doi. 10.3390/ijms22179465
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- Publication type:
- Article
Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4316, doi. 10.3390/ijms22094316
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- Publication type:
- Article
Comprehensive Analysis of GABA<sub>A</sub>-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020518
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- Publication type:
- Article
Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 16, p. 3925, doi. 10.3390/ijms20163925
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- Publication type:
- Article
Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09915-6
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- Publication type:
- Article
Polysomnographic findings in Rett syndrome: a case-control study.
- Published in:
- Sleep & Breathing, 2013, v. 17, n. 1, p. 93, doi. 10.1007/s11325-012-0654-x
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- Publication type:
- Article
Clinical and genetic correlations of scoliosis in Rett syndrome.
- Published in:
- European Spine Journal, 2022, v. 31, n. 11, p. 2987, doi. 10.1007/s00586-022-07217-8
- By:
- Publication type:
- Article
Minimally Invasive Bipolar Technique for Scoliosis in Rett Syndrome—Results and Complications in a Series of 22 Cases.
- Published in:
- Journal of Clinical Medicine, 2025, v. 14, n. 3, p. 849, doi. 10.3390/jcm14030849
- By:
- Publication type:
- Article
Anesthetic management of a Rett syndrome patient with apnea and epilepsy: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 12, p. 2476, doi. 10.1002/ccr3.2511
- By:
- Publication type:
- Article
How reconstructive surgery combined with physiotherapy for a painful nontraumatic patellar dislocation enabled a woman with Rett syndrome to become pain free and remain physically active: A case report.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 3, p. 542, doi. 10.1002/ccr3.2013
- By:
- Publication type:
- Article
De novo mosaic MECP2 mutation in a female with Rett syndrome.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 2, p. 366, doi. 10.1002/ccr3.1985
- By:
- Publication type:
- Article
The Molecular Functions of MeCP2 in Rett Syndrome Pathology.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.624290
- By:
- Publication type:
- Article
Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study.
- Published in:
- Molecular Autism, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13229-023-00566-1
- By:
- Publication type:
- Article
Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS).
- Published in:
- Journal of Autism & Developmental Disorders, 2025, v. 55, n. 3, p. 997, doi. 10.1007/s10803-024-06238-0
- By:
- Publication type:
- Article
Drug Studies on Rett Syndrome: From Bench to Bedside.
- Published in:
- Journal of Autism & Developmental Disorders, 2020, v. 50, n. 8, p. 2740, doi. 10.1007/s10803-020-04381-y
- By:
- Publication type:
- Article
Brief Report: Modest but Clinically Meaningful Effects of Early Behavioral Intervention in Twins with Rett Syndrome—A Case Study.
- Published in:
- Journal of Autism & Developmental Disorders, 2019, v. 49, n. 12, p. 5063, doi. 10.1007/s10803-019-04185-9
- By:
- Publication type:
- Article
Clinical Feature and Genetics in Rett Syndrome: A Report on Iranian Patients.
- Published in:
- Iranian Journal of Child Neurology, 2019, v. 13, n. 4, p. 37
- By:
- Publication type:
- Article
Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.
- Published in:
- Iranian Journal of Child Neurology, 2019, v. 13, n. 3, p. 25
- By:
- Publication type:
- Article
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Twenty years of surveillance in Rett syndrome: what does this tell us?
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/1750-1172-9-87
- By:
- Publication type:
- Article
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0960-2
- By:
- Publication type:
- Article