Glycogen synthase kinase-3 inhibitors: preclinical and clinical focus on CNS-A decade onward

SM Arciniegas Ruiz, H Eldar-Finkelman - Frontiers in molecular …, 2022 - frontiersin.org
The protein kinase, GSK-3, participates in diverse biological processes and is now
recognized a promising drug discovery target in treating multiple pathological conditions …

[HTML][HTML] Autism spectrum disorders—a genetics review

JH Miles - Genetics in Medicine, 2011 - Elsevier
Autism is an etiologically and clinically heterogeneous group of disorders, diagnosed solely
by the complex behavioral phenotype. On the basis of the high-heritability index, geneticists …

Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist

PJ De Vries, VH Whittemore, L Leclezio, AW Byars… - Pediatric …, 2015 - Elsevier
Background Tuberous sclerosis complex is a multisystem genetic disorder with a range of
physical manifestations that require evaluation, surveillance, and management. Individuals …

Tuberous sclerosis

P Curatolo, R Bombardieri, S Jozwiak - The Lancet, 2008 - thelancet.com
Tuberous sclerosis is a genetic multisystem disorder characterised by widespread
hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver …

TuberOus SClerosis registry to increase disease Awareness (TOSCA)–baseline data on 2093 patients

JC Kingswood, GB d'Augères, E Belousova… - Orphanet journal of rare …, 2017 - Springer
Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic
disorder. Many gaps remain in the understanding of TSC because of the complexity in …

Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

JD Dougherty, N Marrus, SE Maloney, B Yip, S Sandin… - Neuron, 2022 - cell.com
Male sex is a strong risk factor for autism spectrum disorder (ASD). The leading theory for a"
female protective effect"(FPE) envisions males and females have" differing thresholds" …

Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population

J Moss, P Howlin - Journal of Intellectual Disability Research, 2009 - Wiley Online Library
Background An emerging literature on behavioural phenotypes has highlighted apparent
associations between autism spectrum disorders (ASDs) or ASDrelated phenomenology …

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

PJ De Vries, E Belousova, MP Benedik, T Carter… - Orphanet journal of rare …, 2018 - Springer
Background Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date
have come from small studies and case reports, and very little is known about TAND in …

Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex

A Sato, S Kasai, T Kobayashi, Y Takamatsu… - Nature …, 2012 - nature.com
Impairment of reciprocal social interaction is a core symptom of autism spectrum disorder.
Genetic disorders frequently accompany autism spectrum disorder, such as tuberous …

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex

AL Numis, P Major, MA Montenegro, DA Muzykewicz… - Neurology, 2011 - AAN Enterprises
Objective: The purpose of this study was to assess the prevalence of and to identify
epidemiologic, genetic, electrophysiologic, and neuroanatomic risk factors for autism …