Investigating the use of mTOR inhibitors in Tuberous Sclerosis Complex

S Amin - 2020 - discovery.ucl.ac.uk
Tuberous Sclerosis Complex (TSC) is a genetic disease caused by variants in the tumour
suppressor genes TSC1 and TSC2, located on chromosomes 9 and 16.(1, 2) Approximately …

Advances in tuberous sclerosis complex (TSC) research

L Underwood - Advances in Autism, 2016 - emerald.com
Purpose–The purpose of this paper is to provide a brief, descriptive overview of Tuberous
Sclerosis Complex (TSC) research with particular reference to studies on Autism Spectrum …

Behavioral and heart-defined attention in infants at high genetic risk for autism

BL Tonnsen - 2015 - scholarcommons.sc.edu
Characterizing early predictors of autism facilitates earlier identification, diagnosis and
treatment. Although aberrant visual attention is one of the earliest identified predictors of …

Genetic disorders as models of high neurocognitive risk: Evidence from fragile X syndrome

B Doherty, A Shimi, G Scerif - Neurodevelopmental Disorders, 2014 - taylorfrancis.com
This chapter provides an overview of how eye-tracking techniques have been used to inform
our understanding of neurodevelopmental disorders. Williams syndrome (WS) is a genetic …

Autism Spectrum Disorder: a challenge for the neurosciences

C Machado, R Rodríguez, M Estévez… - Revista Mexicana de …, 2017 - medigraphic.com
Introduction: Autistic spectrum disorder (ASD) can be better understood by examining its
nature by analyzing brain connectivity. Objective: To better understand the nature of brain …

Trastorno del Espectro Autista: un reto para las neurociencias.

M Calixto, R Rafael, E Mario, L Gerry… - Revista Mexicana …, 2017 - search.ebscohost.com
Introduction: Autistic spectrum disorder (ASD) can be better understood by examining its
nature by analyzing brain connectivity. Objective: To better understand the nature of brain …

CONECTIVIDAD ANATÓMICA Y FUNCIONAL EN EL TRASTORNO DEL ESPECTRO AUTISTA

CM Curbelo - Anales de la Academia de Ciencias de Cuba, 2017 - revistaccuba.sld.cu
Antecedentes: El trastorno del espectro autista (TEA) es complejo trastorno del
neurodesarrollo que se caracteriza clínicamente por dificultades de la interacción social …

[引用][C] Disorders of speech and cognition in children suffernig tuberous sclerosis

A Kovač, DM Pavlović - Engrami, 2017

[PDF][PDF] Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice

松下悠紀 - 2016 - catalog.lib.kyushu-u.ac.jp
Results Increased PI3K-Akt signaling in the Pten-cKO hippocampal dentate gyrus. We first
investigated the regional expression of Pten in the Pten-cKO mice and their littermate …

[PDF][PDF] Anatomic and Functional Connectivity Relationship in Autistic Children During Three Different Experimental Conditions

M Chinchilla, L Portela - academia.edu
A group of 21 autistic children were studied for determining the relationship between the
anatomic (AC) versus functional (FC) connectivity, considering short-range and long-range …