Magnetic Nanoparticle‐Assisted Non‐Viral CRISPR‐Cas9 for Enhanced Genome Editing to Treat Rett Syndrome
Sign Up to like & getrecommendations! Published in 2024 at "Advanced Science"
DOI: 10.1002/advs.202306432
Abstract: The CRISPR‐Cas9 technology has the potential to revolutionize the treatment of various diseases, including Rett syndrome, by enabling the correction of genes or mutations in human patient cells. However, several challenges need to be addressed… read more here.
Keywords: crispr; rett syndrome; genome editing; magnetic nanoparticle ... See more keywords
Dietary intake and growth deficits in Rett syndrome—A cross‐section study
Sign Up to like & getrecommendations! Published in 2021 at "Autism Research"
DOI: 10.1002/aur.2508
Abstract: Growth deficit is a common comorbidity and one of the supportive criteria in Rett syndrome (RTT). This study aimed to investigate the impact of dystonia, dietary intakes, and clinical severities on growth patterns in a… read more here.
Keywords: rtt; rett syndrome; study; rtt specific ... See more keywords
Is highly purified cannabidiol a treatment opportunity for drug‐resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?
Sign Up to like & getrecommendations! Published in 2025 at "Epilepsia Open"
DOI: 10.1002/epi4.70078
Abstract: This study aimed to evaluate the efficacy and safety of adjunctive, highly purified Cannabidiol (Epidiolex®) in individuals with drug‐resistant epilepsy (DRE) due to genetically determined typical Rett Syndrome (RTT) and CDKL5 Deficiency Disorder (CDD). read more here.
Keywords: purified cannabidiol; highly purified; typical rett; resistant epilepsy ... See more keywords
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1917
Abstract: BACKGROUND Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X-chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue differences in XCI, and skewing… read more here.
Keywords: rett syndrome; inactivation; xci; status ... See more keywords
Management of respiratory issues in patients with Rett syndrome: Italian experts' consensus using a Delphi approach
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DOI: 10.1002/ppul.27030
Abstract: Despite the publication of the 2020 guidelines on how to manage Rett Syndrome (RS), some fundamental topics are still open, in particular respiratory problems. read more here.
Keywords: issues patients; patients rett; respiratory issues; respiratory ... See more keywords
Assessment of Caregiver Inventory for Rett Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Autism and Developmental Disorders"
DOI: 10.1007/s10803-017-3034-3
Abstract: Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face,… read more here.
Keywords: caregiver; rett syndrome; burden; assessment ... See more keywords
Quality of life related to clinical features in patients with Rett syndrome and their parents: a systematic review
Sign Up to like & getrecommendations! Published in 2018 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-018-0316-1
Abstract: Patients with a neurodevelopmental disorder such as Rett syndrome (RS), as well as their families, have complex needs that affect their quality of life (QoL). Therefore, both families and patients with RS must be provided… read more here.
Keywords: quality life; systematic review; rett syndrome; clinical features ... See more keywords
Managing Gastrointestinal Symptoms Resulting from Treatment with Trofinetide for Rett Syndrome: Caregiver and Nurse Perspectives
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DOI: 10.1007/s12325-024-02782-4
Abstract: Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder mainly affecting female individuals. Trofinetide was recently approved as the first treatment for RTT, largely on the basis of results from the phase 3 LAVENDER trial,… read more here.
Keywords: treatment; trofinetide; symptoms resulting; rett syndrome ... See more keywords
Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls
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DOI: 10.1007/s13312-018-1336-y
Abstract: ObjectiveTo assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome.DesignDescriptive study.SettingTertiary-care medical genetics center.PatientsGirls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypical… read more here.
Keywords: testing mecp2; group; rett syndrome; mecp2 gene ... See more keywords
Zoledronic acid improves bone histomorphometry in a murine model of Rett syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Bone"
DOI: 10.1016/j.bone.2017.03.040
Abstract: Rett syndrome (RTT) is a neurodevelopmental disorder predominately affecting young females, caused by deficiency of the global transcriptional protein methyl CpG binding protein 2 (MeCP2). Osteoblasts express MeCP2 and girls with RTT experience early onset… read more here.
Keywords: treatment; rett syndrome; bone; model ... See more keywords
HDAC inhibitor ameliorates behavioral deficits in Mecp2 308/y mouse model of Rett syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Brain Research"
DOI: 10.1016/j.brainres.2021.147670
Abstract: Rett syndrome (RTT) is a rare X-linked neurodevelopmental disorder. More than 95% of classic RETT syndrome cases result from pathogenic variants in the methyl-CpG binding protein 2 (MECP2) gene. Nevertheless, it has been established that… read more here.
Keywords: inhibitor ameliorates; rett syndrome; mecp2 308; mecp2 deficient ... See more keywords