Results 31 to 40 of about 5,402,382 (253)

Tuberous Sclerosis Complex in Autism [PDF]

open access: yes, 2013
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

Clinical case of manifestation of tuberous sclerosis in a child

open access: yesZdorovʹe Rebenka, 2021
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]

open access: yesNeurology, 2005
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

open access: yesPharmacological Research, 2023
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]

open access: yes, 2017
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

open access: yesJournal of Indian Society of Pedodontics and Preventive Dentistry, 2011
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

open access: yes, 2023
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]

open access: yes, 2013
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]

open access: yes, 2009
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

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