Results 101 to 110 of about 18,028 (242)
Disruption of the Cellular Regulation of CDKL5 Might be Relevant for Rett Syndrome
, 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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Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population
Clinical Genetics, Volume 110, Issue 1, Page 90-95, July 2026.Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong +20 more
wiley +1 more source
Antioxidant and Inflammatory Cross-talk in Rett Syndrome
, 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
core +1 more source
Frontiers in Drug DiscoveryIntroductionRett Syndrome is a genetic neurodevelopmental disorder caused by decreased levels of MeCP2. Due to mutations in the MECP2 gene, insufficient MeCP2 protein levels lead to clinical phenotypes including the loss of normal movement, decreased ...
Joseph S. Anderson +4 more
doaj +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru +16 more
wiley +1 more source
Pubertal development and hypothalamic–pituitary–gonadal axis are altered in male mice lacking Mecp2
Journal of Neuroendocrinology, Volume 38, Issue 7, July 2026.Abstract Mutations in the MECP2 gene, encoding the epigenetic reader Methyl‐CpG binding protein 2, are the main cause of Rett syndrome, a rare neurodevelopmental disorder. Besides severe symptoms such as profound intellectual disability, loss of speech and motor skills, and epilepsy, loss of function of MECP2 has been associated with pubertal ...
Ana Martín‐Sánchez +6 more
wiley +1 more source
Targeting Neuronal Activity with Ampakine: A Therapeutic Approach for Rett Syndrome [PDF]
openRett syndrome (RTT) is a rare and severe neurodevelopmental disorder, primarily affecting females. Patients are characterized by an apparently normal early development followed by a regression phase between 6 and 18 months of age, which marks the ...
VAROTTO, VIRGINIA
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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
PLoS ONE, 2013 Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is a weak correlation between the mutation type in the Xq28 disease-gene MECP2/X-inactivation ...
Elisa Grillo +17 more
doaj +1 more source
Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.Abstract Alzheimer's disease (AD) is a multifactorial neurodegenerative disorder driven by intersecting pathological processes. Persistent attrition in AD drug‐development pipelines highlights the limited clinical impact of single‐target therapies and has increased interest in multi‐target approaches acting on shared biological hubs.
Humberto Martínez‐Orozco +4 more
wiley +1 more source