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The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
(W.B. Saunders Ltd, 2019)
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although ...
Caracterización clínica y estudio genético de una cohorte colombiana con trastorno del espectro autista idiopático
(Universidad de los AndesDoctorado en Ciencias - BiologíaFacultad de CienciasDepartamento de Ciencias Biológicas, 2020)
The autism spectrum disorder (ASD) is a complex disorder encompassing a broad phenotypic and genotypic variability. The twin concordance rate and a milder autism phenotype in relatives reflect a strong genetic component ...
Microarray analysis of rat hippocampus exposed to excitotoxicity: Reversal Na +/Ca 2+ exchanger NCX3 is overexpressed in glial cells
(2012)
Multiple factors are involved in the glutamate-induced excitotoxicity phenomenon, such as overload of ionotropic and metabotropic receptors, excess Ca 2+ influx, nitric oxide synthase activation, oxidative damage due to ...
Microarray analysis of rat hippocampus exposed to excitotoxicity: Reversal Na +/Ca 2+ exchanger NCX3 is overexpressed in glial cells
(2012)
Multiple factors are involved in the glutamate-induced excitotoxicity phenomenon, such as overload of ionotropic and metabotropic receptors, excess Ca 2+ influx, nitric oxide synthase activation, oxidative damage due to ...