Results 71 to 80 of about 18,037 (234)
Disruption of the Cellular Regulation of CDKL5 Might be Relevant for Rett Syndrome [PDF]
, 2008 Mutations in the human X-linked cyclin dependent kinase like 5 (CDKL5) gene have recently been identified in some Rett patients with the Hanefeld variant as well as in girls with mental retardation associated with early seizures. We have previously shown
LANDSBERGER, NICOLETTA +6 more
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Rett Syndrome without MECP2 Mutation in a Pakistani Girl
Life and Science, 2020 Rett syndrome is a rare inherited neurodegenerative disease which mostly affects females but has a lethal impact on males. Rett syndrome is mostly caused by mutations of Methyl CpG binding protein-2 (MECP2) gene located on chromosome Xq28. A 7-year girl
Rubina Dad +4 more
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider +3 more
wiley +1 more source
Antioxidant and Inflammatory Cross-talk in Rett Syndrome [PDF]
, 2018 Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly caused by mutation in the methyl-CpG binding protein 2 gene (MECP2). However, to date, the molecular and pathogenic mechanisms by which MECP2 deficiency drives pathology in RTT remains not ...
Hayek J. +5 more
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, 1988 The clinical peculiarities and differential diagnosis of Rett syndrome are reviewed from the Department of Pediatrics Children's Clinics, East Hospital, Goteborg ...
J Gordon Millichap
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OxInflammation in Rett syndrome
The International Journal of Biochemistry & Cell Biology, 2016 Rett syndrome (RTT) is an orphan progressive neurodevelopmental disease affecting almost exclusively females (frequency 1:10,000). RTT clinical expression is typically characterized by loss of purposeful hand movements, severe mental retardation and motor impairment, breathing disorders, ataxia and increased risk of sudden death.
PECORELLI, Alessandra +3 more
openaire +3 more sources
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
, 2009 Rett syndrome is a thief! It robs little girls of their projected life. It lulls their families into a false sense of security while their little girls develop normally for 6 to 18 months.
Cox, Deborah Ann
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Pediatric Neurology Briefs, 1987 The electroencephalographic (EEG) characteristics of Retts syndrome were studied in 17 girls between the ages of 1 and 16 yrs at the Sections of Neurophysiology and Pediatric Neurology, Baylor College of Medicine and The Methodist Hospital, Houston, TX.
openaire +4 more sources
NeuroMolecular Medicine, 2014 Rett syndrome (RTT) is a severe and progressive neurological disorder, which mainly affects young females. Mutations of the methyl-CpG binding protein 2 (MECP2) gene are the most prevalent cause of classical RTT cases. MECP2 mutations or altered expression are also associated with a spectrum of neurodevelopmental disorders such as autism spectrum ...
Vichithra R B, Liyanage +1 more
openaire +2 more sources