Results 31 to 40 of about 5,402,382 (253)
Tuberous Sclerosis Complex in Autism [PDF]
Objective: To study the prevalence rate of tuberous sclerosis complex in autistic disorder. Methods: We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We
Shi, Xiao-Dong, Guo, Xin, Tu, Wen-Jun
core +2 more sources
Pilot validation of the Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) checklist as a screening tool for neuropsychiatric manifestations [PDF]
Includes abstract.
Leclezio, Loren
core +1 more source
Clinical case of manifestation of tuberous sclerosis in a child
We have provided information about prevalence, etiology and pathogenesis of the tuberous sclerosis complex, a rare hereditary disease, caused by genetic mutation in TSC1 and TSC2 genes.
Yu.A. Chornyi +4 more
doaj +1 more source
Hemimegalencephaly and tuberous sclerosis complex [PDF]
A 1-day-old boy was transferred to the neonatal intensive care unit secondary to tachypnea. He had macrocephaly and full fontanelles. Imaging demonstrated hemimegalencephaly and subependymal nodules (figure). Further evaluation revealed cardiac rhabdomyomas and renal angiomyolipomas. Definite tuberous sclerosis complex …
Michael S, Cartwright +2 more
openaire +2 more sources
Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterised by abnormal cell proliferation and differentiation that affects multiple organs and can lead to the growth of hamartomas.
Roberto Previtali +6 more
doaj +1 more source
Early autism symptoms in infants with tuberous sclerosis complex [PDF]
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50-60% of infants with TSC meeting criteria for ASD by 3 years of age.
Shafali S. Jeste +20 more
core +1 more source
Tuberous sclerosis: A novel approach to diagnosis
Tuberous sclerosis or tuberous sclerosis complex is a dominantly inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs.
P B Jahagirdar +3 more
doaj +1 more source
Therapeutics for Tuberous Sclerosis
Tuberous Sclerosis Complex (TSC) is a disease characterized by abnormal hamartomas and benign neoplasms in multiple organs. The diagnosis is made by the presence of 2 major features, or 1 major feature accompanied by 2 minor features.
Daniel Lovasz; Amanda Henderson, MD
core
Atypical Face Processing in Children With Tuberous Sclerosis Complex [PDF]
There is a high incidence of autism in tuberous sclerosis complex. Given the evidence of impaired face processing in autism, the authors sought to investigate electrophysiological markers of face processing in children with tuberous sclerosis complex ...
Jeste, Shafali Spurling +8 more
core +1 more source
Screen for chemical modulators of autophagy reveals novel therapeutic inhibitors of mTORC1 signaling [PDF]
BackgroundMammalian target of rapamycin complex 1 (mTORC1) is a protein kinase that relays nutrient availability signals to control numerous cellular functions including autophagy, a process of cellular self-eating activated by nutrient depletion ...
Trevor C F Tsang +31 more
core +2 more sources

