Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy

P Curatolo, N Specchio, E Aronica - The Lancet Neurology, 2022 - thelancet.com
Tuberous sclerosis complex is a rare genetic disease associated with mutations in the TSC1
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …

Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex

CL Salussolia, K Klonowska… - Annual Review of …, 2019 - annualreviews.org
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the …

Recent advances in neurobiology of tuberous sclerosis complex

V Napolioni, R Moavero, P Curatolo - Brain and Development, 2009 - Elsevier
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with variable
phenotypic expression, due to a mutation in one of the two genes, TSC1 and TSC2, and a …

Neurological and neuropsychiatric aspects of tuberous sclerosis complex

P Curatolo, R Moavero, PJ de Vries - The Lancet Neurology, 2015 - thelancet.com
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …

Genetics of tuberous sclerosis complex: implications for clinical practice

C Caban, N Khan, DM Hasbani… - The application of clinical …, 2016 - Taylor & Francis
Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous
mutations in either TSC1 or TSC2. The primary organ systems that are affected include the …

Genotype/phenotype correlations in tuberous sclerosis complex

P Curatolo, R Moavero, D Roberto… - Seminars in pediatric …, 2015 - Elsevier
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
development of widespread hamartomatous lesions in various organs, including brain, skin …

Evolving neurobiology of tuberous sclerosis complex

PB Crino - Acta neuropathologica, 2013 - Springer
Over the past decade, there have been numerous advances in our understanding of the
molecular pathogenesis of tuberous sclerosis complex (TSC). Following the identification of …

An update on the central nervous system manifestations of tuberous sclerosis complex

JA Cotter - Acta Neuropathologica, 2020 - Springer
The autosomal dominant disorder tuberous sclerosis complex (TSC) is characterized by an
array of manifestations both within and outside of the central nervous system (CNS) …

Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse models

L Magri, M Cominelli, M Cambiaghi… - Disease models & …, 2013 - journals.biologists.com
Tuberous sclerosis complex (TSC) is a dominantly inherited disease with high penetrance
and morbidity, and is caused by mutations in either of two genes, TSC1 or TSC2. Most …

Tuberous sclerosis complex

DM Hasbani, PB Crino - Handbook of clinical neurology, 2018 - Elsevier
Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem
disorder that results from mutations in either TSC1 or TSC2. The primary organs affected …