Results 51 to 60 of about 347,356 (359)
A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex
Neurology, 2019 Objective To investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other neuropsychological deficits in children with tuberous sclerosis complex (TSC). Methods In this 12-month, randomized,
I. Overwater +10 more
semanticscholar +1 more source
European Journal of Human Genetics, 2006 Tuberous sclerosis is a serious inherited disease which poses major challenges for affected families and those caring for them. Identification of the genes causing the condition and study of their protein products has shed light on the pathogenesis of the disease and provided valuable new information about signalling pathways regulating protein ...
openaire +2 more sources
Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex [PDF]
, 2012 Background and Objectives: Facial angiofibromas are disfiguring facial lesions, present in up to 80% of patients with tuberous sclerosis complex. Recent elucidation of the complex cell signaling pathways that are disrupted in tuberous sclerosis indicates
Hebert, Adelaide A. +6 more
core +1 more source
Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review
Frontiers in Oncology, 2022 Pancreatic neuroendocrine neoplasms (PNEN) are tumors that originate from neuroendocrine cells. Only about 1% patients are related to mutation of tuberous sclerosis complex gene. Here, we reported a rare case with involvement of multiple organs and space-
Xinhe Zhang +15 more
doaj +1 more source
Bilateral renal angiomyolipomas with invasion of the renal vein: A case report [PDF]
, 2008 An angiomyolipoma (AML) is usually a benign, rare, and, more commonly, a unilateral renal tumour. Bilateral tumours are very rare, particularly in the absence of tuberous sclerosis complex.
Blick, C +3 more
core +3 more sources
Journal of Clinical Medicine, 2019 Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD.
R. Moavero +23 more
semanticscholar +1 more source
Corticostriatal Transmission Is Selectively Enhanced in Striatonigral Neurons with Postnatal Loss of Tsc1. [PDF]
, 2018 mTORC1 is a central signaling hub that integrates intra- and extracellular signals to regulate a variety of cellular metabolic processes. Mutations in regulators of mTORC1 lead to neurodevelopmental disorders associated with autism, which is ...
Bateup, Helen S +2 more
core +2 more sources
Long‐term cognitive outcomes in tuberous sclerosis complex
Developmental Medicine & Child Neurology, 2019 To investigate the interdependence between risk factors associated with long‐term intellectual development in individuals with tuberous sclerosis complex (TSC).
C. Tye +8 more
semanticscholar +1 more source
NeuroImage: Clinical, 2022 Tuberous sclerosis complex is a rare genetic multisystem condition that is associated with a high prevalence of neurodevelopmental disorders such as autism and attention-deficit/hyperactivity disorder. The underlying neural mechanisms of the emergence of
Lucy D. Vanes +8 more
doaj
Fatty images of the heart: spectrum of normal and pathological findings at computed tomography and cardiac magnetic resonance imaging. [PDF]
, 2018 Ectopic cardiac fatty images are not rarely detected incidentally at computed tomography and cardiac magnetic resonance, either in exams focused on the heart as in general thoracic imaging evaluations.
Cannavale, Giuseppe +6 more
core +3 more sources