Results 121 to 130 of about 2,296,312 (307)
Synaptic plasticity and cognitive function are disrupted in the absence of Lrp4. [PDF]
, 2014 Lrp4, the muscle receptor for neuronal Agrin, is expressed in the hippocampus and areas involved in cognition. The function of Lrp4 in the brain, however, is unknown, as Lrp4-/- mice fail to form neuromuscular synapses and die at birth.
Burden, Steven J +2 more
core +1 more source
Characterisation of sleep apneas and respiratory circuitry in mice lacking CDKL5
Journal of Sleep Research, Volume 34, Issue 2, April 2025.Summary CDKL5 deficiency disorder is a rare genetic disease caused by mutations in the CDKL5 gene. Central apneas during wakefulness have been reported in patients with CDKL5 deficiency disorder. Studies on CDKL5‐knockout mice, a CDKL5 deficiency disorder model, reported sleep apneas, but it is still unclear whether these events are central (central ...
Gabriele Matteoli +12 more
wiley +1 more source
Rett syndrome: a neurological disorder with metabolic components
Open Biology, 2018 Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by
Stephanie M. Kyle +2 more
semanticscholar +1 more source
Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome
Egyptian Pediatric Association Gazette, 2015 Background: Rett syndrome is a progressive neurodevelopment disorder which mainly affects females and is a common cause of mental retardation. Loss of purposeful hand movements, regression of acquired cognitive and motor skills and autistic features are ...
Hisham Megahed +2 more
doaj +1 more source
Tratamiento quirúrgico de la escoliosis en el síndrome de Rett: sistema de instrumentación TRANSPINE [PDF]
, 2010 El Síndrome de Rett es una afectación neurológica que en los estadios últimos presenta deformidades evolutivas que suelen precisar cirugía. Se han revisado en este estudio 11 pacientes con Síndrome de Rett y deformidad en columna que precisaron cirugía ...
Bas Hermida, P. +4 more
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Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]
, 2018 We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe +12 more
core +2 more sources
How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle
Psychiatry and Clinical Neurosciences, EarlyView.Neurodevelopmental disorders (NDDs), such as schizophrenia (SCZ), Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), learning disabilities, and intellectual disabilities (ID), are highly prevalent. One significant genetic factor associated with NDDs is copy number variations (CNVs), which are structural changes in the ...
Tianqi Wang +3 more
wiley +1 more source
RettBASE: Rett syndrome database update
Human Mutation, 2017 Rett syndrome (RTT) is an X‐linked progressive neurodevelopmental disorder that primarily affects females. Mutations in the MECP2 gene have been attributed as the major genetic cause of RTT.
R. Krishnaraj, G. Ho, J. Christodoulou
semanticscholar +1 more source
Unexpected cellular players in Rett syndrome pathology
Neurobiology of Disease, 2016 Rett syndrome is a devastating neurodevelopmental disorder, primarily caused by mutations of methyl CpG-binding protein 2 (MeCP2). Although the genetic cause of disease was identified over a decade ago, a significant gap still remains in both our ...
James C. Cronk +3 more
doaj +1 more source
2008 Progress Report on Brain Research [PDF]
, 2008 Highlights new research on various disorders, nervous system injuries, neuroethics, neuroimmunology, pain, sense and body function, stem cells and neurogenesis, and thought and memory.
Eve Marder +3 more
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