Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
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Pathophysiology of locus ceruleus neurons in a mouse model of Rett syndromePathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndromePartial reversal of Rett Syndrome-like symptoms in MeCP2 mutant miceCharacterizing autism spectrum disorders by key biochemical pathways.MECP2 disorders: from the clinic to mice and backMeCP2 post-translational modifications: a mechanism to control its involvement in synaptic plasticity and homeostasis?Modeling neurodevelopmental disorders using human neuronsCytosine modifications in neurodevelopment and diseasesAbnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunctionDendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutationsA critical and cell-autonomous role for MeCP2 in synaptic scaling upMeCP2 functions largely cell-autonomously, but also non-cell-autonomously, in neuronal maturation and dendritic arborization of cortical pyramidal neurons.Transgenic miR132 alters neuronal spine density and impairs novel object recognition memoryIsolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.Habituation without NMDA Receptor-Dependent Desensitization of Hering-Breuer Apnea Reflex in a Mecp2 Mutant Mouse Model of Rett SyndromeComplexities of Rett syndrome and MeCP2Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespanPerinatal α-linolenic acid availability alters the expression of genes related to memory and to epigenetic machinery, and the Mecp2 DNA methylation in the whole brain of mouse offspring.Rett syndrome: genes, synapses, circuits, and therapeuticsAdult Phenotypes in Angelman- and Rett-Like Syndromes.Neocortical dendritic complexity is controlled during development by NOMA-GAP-dependent inhibition of Cdc42 and activation of cofilin.An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.Progressive Changes in a Distributed Neural Circuit Underlie Breathing Abnormalities in Mice Lacking MeCP2.Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives.GlyT2-Dependent Preservation of MECP2-Expression in Inhibitory Neurons Improves Early Respiratory Symptoms but Does Not Rescue Survival in a Mouse Model of Rett Syndrome.A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations.Developmental and maintenance defects in Rett syndrome neurons identified by a new mouse staging system in vitro.What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?Defects During Mecp2 Null Embryonic Cortex Development Precede the Onset of Overt Neurological Symptoms.The BDNF val-66-met Polymorphism Affects Neuronal Morphology and Synaptic Transmission in Cultured Hippocampal Neurons from Rett Syndrome Mice.Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation.Neuroepigenetic mechanisms in disease.Site-directed RNA repair of endogenous Mecp2 RNA in neurons.Autobiography Series: Some Remembrances About Education and Neuropathology Studies.Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.Persistent Expression of Serotonin Receptor 5b Alters Breathing Behavior in Male MeCP2 Knockout Mice.Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype.
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Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 08 May 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Severe congenital encephalopat ...... neuronal dendritic structure.
@en
Severe congenital encephalopat ...... neuronal dendritic structure.
@nl
type
label
Severe congenital encephalopat ...... neuronal dendritic structure.
@en
Severe congenital encephalopat ...... neuronal dendritic structure.
@nl
prefLabel
Severe congenital encephalopat ...... neuronal dendritic structure.
@en
Severe congenital encephalopat ...... neuronal dendritic structure.
@nl
P2093
P2860
P1433
P1476
Severe congenital encephalopat ...... d neuronal dendritic structure
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P2093
P2860
P304
P356
10.1111/J.1399-0004.2008.01005.X
P577
2008-05-08T00:00:00Z