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Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders.
- Published in:
- Annals of Neurology, 2024, v. 96, n. 1, p. 175, doi. 10.1002/ana.26948
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- Article
Abolished clustering of MeCP2<sup>T158M</sup> can be partially reverted with small molecules.
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- Translational Medicine Communications, 2024, v. 9, n. 1, p. 1, doi. 10.1186/s41231-024-00176-w
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- Article
Probing a neural unreliability account of auditory sensory processing atypicalities in Rett Syndrome.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09544-x
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- Article
Assistive Communication Devices in Rett Syndrome: A Case Report and Narrative Review.
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- BioMed, 2024, v. 4, n. 2, p. 146, doi. 10.3390/biomed4020012
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- Article
Fiberoptic Endoscopic Evaluation of Swallowing Findings in Children With Rett Syndrome.
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- Clinical Pediatrics, 2024, v. 63, n. 4, p. 551, doi. 10.1177/00099228231184673
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- 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
Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations.
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- Journal of Molecular Medicine, 2024, v. 102, n. 5, p. 641, doi. 10.1007/s00109-024-02436-6
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- Article
Dendrimer nanotherapy targeting of glial dysfunction improves inflammation and neurobehavioral phenotype in adult female Mecp2-heterozygous mouse model of Rett syndrome.
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- Journal of Neurochemistry, 2024, v. 168, n. 5, p. 841, doi. 10.1111/jnc.15960
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- Article
Atypical brain responses to 40‐Hz click trains in girls with Rett syndrome: Auditory steady‐state response and sustained wave.
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- Psychiatry & Clinical Neurosciences, 2024, v. 78, n. 5, p. 282, doi. 10.1111/pcn.13638
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- Article
The use of botulinum toxin for grinding in patients with Rett syndrome—Case report.
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- Special Care in Dentistry, 2024, v. 44, n. 3, p. 737, doi. 10.1111/scd.12918
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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
CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies.
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- 2024
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- Correction Notice
Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1278198
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- Article
Primitive way country come look inside.
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- Leonardo, 2024, v. 57, n. 2, p. 179, doi. 10.1162/leon_a_02500
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- Article
Gut microbiota profile in CDKL5 deficiency disorder patients.
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- Scientific Reports, 2024, v. 14, p. 1, doi. 10.1038/s41598-024-56989-0
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- Article
Functional contribution of the intestinal microbiome in autism spectrum disorder, attention deficit hyperactivity disorder, and Rett syndrome: a systematic review of pediatric and adult studies.
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- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1341656
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- Article
Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.
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- Genes, 2024, v. 15, n. 3, p. 287, doi. 10.3390/genes15030287
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- Article
MECP2-related disorders while gene-based therapies are on the horizon.
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- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1332469
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- Article
Gut microbes in central nervous system development and related disorders.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2023.1288256
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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
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
Inconsolability in a Nonverbal Adolescent.
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- 2024
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- Case Study
Use of Augmentative and Alternative Communication by Individuals with Rett Syndrome Part 1: Page-Linking.
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- Journal of Developmental & Physical Disabilities, 2024, v. 36, n. 1, p. 125, doi. 10.1007/s10882-023-09903-x
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- Article
Use of Augmentative and Alternative Communication by Individuals with Rett Syndrome Part 2: High-Tech and Low-Tech Modalities.
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- Journal of Developmental & Physical Disabilities, 2024, v. 36, n. 1, p. 147, doi. 10.1007/s10882-023-09902-y
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- Article
2023 FDA TIDES (Peptides and Oligonucleotides) Harvest.
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- Pharmaceuticals (14248247), 2024, v. 17, n. 2, p. 243, doi. 10.3390/ph17020243
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- Article
Rett syndrome in Ireland: a demographic study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03046-8
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- Article
Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications.
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- Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1301272
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- Article
Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03010-y
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- Article
An ambulatory dental treatment of a child with Rett syndrome and limited mouth opening under muscle relaxant-free general anesthesia: a case report.
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- BMC Anesthesiology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12871-023-02379-4
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- Article
Clinical Research on Rett Syndrome: Central Hypoxemia and Hypokalemic Metabolic Alkalosis.
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- Alternative Therapies in Health & Medicine, 2024, v. 30, n. 1, p. 167
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- Article
Reversal of neurological deficits by painless nerve growth factor in a mouse model of Rett syndrome.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 122, doi. 10.1093/brain/awad282
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- Article
The Efficacy of a Human-Ready mini MECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome.
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- Genes, 2024, v. 15, n. 1, p. 31, doi. 10.3390/genes15010031
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- Article
Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies.
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- Children, 2023, v. 10, n. 12, p. 1861, doi. 10.3390/children10121861
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- Article
Occupational exposure of pregnant women to refined oil and infant wheezing: Japan environment and children's study findings.
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- Clinical & Experimental Allergy, 2023, v. 53, n. 12, p. 1302, doi. 10.1111/cea.14404
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- Article
Teaching Requesting to Individuals with Rett Syndrome Using Alternative Augmentative Communication (AAC) Through Caregiver Coaching via Telehealth.
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- Journal of Developmental & Physical Disabilities, 2023, v. 35, n. 6, p. 1063, doi. 10.1007/s10882-023-09894-9
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- Article
השוואת החומרה של תסמונת רט בין נבדקות מאיטליה לנבדקות מישראל.
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- Journal of the Israeli Physical Therapy Society (JIPTS), 2023, v. 25, n. 3, p. 34, doi. 10.3390/diagnostics13213390
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- Article
Trofinetide--a new chapter in rett syndrome's treatment.
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- Frontiers in Pharmacology, 2023, p. 01, doi. 10.3389/fphar.2023.1284035
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- Article
Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-39398-7
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- Publication type:
- Article
Adenosinergic System and BDNF Signaling Changes as a Cross-Sectional Feature of RTT: Characterization of Mecp2 Heterozygous Mouse Females.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16249, doi. 10.3390/ijms242216249
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- Article
Melatonin in Neurodevelopmental Disorders: A Critical Literature Review.
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- Antioxidants, 2023, v. 12, n. 11, p. 2017, doi. 10.3390/antiox12112017
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- Article
A Severity Comparison between Italian and Israeli Rett Syndrome Cohorts.
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- Diagnostics (2075-4418), 2023, v. 13, n. 21, p. 3390, doi. 10.3390/diagnostics13213390
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- Article
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.
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- Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04622-5
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- Publication type:
- Article
Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study.
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- Molecular Autism, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13229-023-00566-1
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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
Selective Deletion of Methyl CpG Binding Protein 2 from Parvalbumin Interneurons in the Auditory Cortex Delays the Onset of Maternal Retrieval in Mice.
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- Journal of Neuroscience, 2023, v. 43, n. 40, p. 6745, doi. 10.1523/JNEUROSCI.0838-23.2023
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- Article
Language modeling using an augmentative and alternative communication device during virtual schooling: A single case study.
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- Child Language Teaching & Therapy, 2023, v. 39, n. 3, p. 203, doi. 10.1177/02656590231188522
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- Article
Care Issues in Patients with Rett Syndrome: A Parental Perspective.
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- Children, 2023, v. 10, n. 10, p. 1713, doi. 10.3390/children10101713
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- Article
MBL-1 and EEL-1 affect the splicing and protein levels of MEC-3 to control dendrite complexity.
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- PLoS Genetics, 2023, v. 19, n. 9, p. 1, doi. 10.1371/journal.pgen.1010941
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- Article
Natural Course of IQSEC2 -Related Encephalopathy: An Italian National Structured Survey.
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- Children, 2023, v. 10, n. 9, p. 1442, doi. 10.3390/children10091442
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- Article
Gallbladder Stones in Pediatric Age: An Emerging Problem: The Risk of Difficult Cholecystectomy and the Importance of a Preoperative Evaluation.
- Published in:
- Children, 2023, v. 10, n. 9, p. 1544, doi. 10.3390/children10091544
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- Article