Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Tanjala T, Gipson"'
Autor:
Petrus J. de Vries, Tosca-Marie Heunis, Stephanie Vanclooster, Nola Chambers, Stacey Bissell, Anna W. Byars, Jennifer Flinn, Tanjala T. Gipson, Agnies M. van Eeghen, Robert Waltereit, Jamie K. Capal, Sebastián Cukier, Peter E. Davis, Catherine Smith, J. Chris Kingswood, Eva Schoeters, Shoba Srivastava, Megumi Takei, Sugnet Gardner-Lubbe, Aubrey J. Kumm, Darcy A. Krueger, Mustafa Sahin, Liesbeth De Waele, Anna C. Jansen
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-20 (2023)
Abstract Background Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with
Externí odkaz:
https://doaj.org/article/0f33b55db38e479d9f389a096963c78f
Publikováno v:
Frontiers in Human Neuroscience, Vol 17 (2023)
Tuberous Sclerosis Complex (TSC), is a neurocutaneous disorder, associated with a high prevalence of autism spectrum disorder (ASD; ∼50% of individuals). As TSC is a leading cause of syndromic ASD, understanding language development in this populat
Externí odkaz:
https://doaj.org/article/da79e28e216d4809b8fedca3b322407b
Autor:
Tanjala T. Gipson, Michael V. Johnston
Publikováno v:
F1000Research, Vol 6 (2017)
Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR) signaling. TSC is commonly associated with autism (61%), intell
Externí odkaz:
https://doaj.org/article/74067c79fcb046ac93cb15682bd46469
Autor:
D. Kimbrough Oller, Ellen E. Ellison, Edina R. Bene, Gordon Ramsay, Tanjala T. Gipson, Helen L. Long
Publikováno v:
Pediatr Neurol
Background Our goal was to assess for the first time early vocalizations as precursors to speech in audio-video recordings of infants with tuberous sclerosis complex (TSC). Methods We randomly selected 40 infants with TSC from the TSC Autism Center o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d65acd3e256f579c7523d0522805f4c9
https://europepmc.org/articles/PMC8557126/
https://europepmc.org/articles/PMC8557126/
Autor:
Kathryn A. Carson, Thierry A.G.M. Huisman, Tanjala T. Gipson, Andrea Poretti, Sarah A. Kelley, Michael V. Johnston
Publikováno v:
Journal of Neuroimaging
BACKGROUND AND PURPOSE Tuberous sclerosis complex (TSC) is a rare, genetic disease that is associated with multiple manifestations including epilepsy and autism. Self‐injurious behaviors (SIBs) also occur in a subset of patients. This study used di
Autor:
Ashley J. Pounders, Gabrielle V. Rushing, Sonal Mahida, Bareng Aletta Sanny Nonyane, Emily A. Thomas, Rabiah Sundus Tameez, Tanjala T. Gipson
Publikováno v:
Therapeutic Advances in Rare Disease. 3:263300402211401
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder of non-malignant tumor growths throughout major organ systems and neurological, neuropsychiatric, renal, and pulmonary co-morbidities. Skin manifestations a
Autor:
Tanjala T. Gipson, Michael V. Johnston
Publikováno v:
Neural Plasticity, Vol 2012 (2012)
Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1
Externí odkaz:
https://doaj.org/article/0f84057816484df9b8a2c3c13ca778d2
Autor:
Tanjala T Gipson
Publikováno v:
Clinical Nephrology
Background: Tuberous sclerosis complex (TSC) is a multisystem disorder that results in tumor growth in various organs. TSC can affect the kidneys in the form of renal angiomyolipomas and cysts that can lead to chronic kidney disease. Case presentatio
Autor:
Tanjala T. Gipson
Publikováno v:
Sleep in Children with Neurodevelopmental Disabilities ISBN: 9783319984124
Tuberous sclerosis complex is a genetic neurocutaneous syndrome affecting 1/6000 live births. Neurobiologically, the manifestations have been linked to excessive activity of the protein kinase mammalian target of rapamycin, and treatments to target t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ffeefa547c38beeeb0520e551b723f2
https://doi.org/10.1007/978-3-319-98414-8_19
https://doi.org/10.1007/978-3-319-98414-8_19
Autor:
Michael P, Johnson, Jonathan C, Johnson, Nicole M, Engel-Nitz, Qayyim, Said, Judith, Prestifilippo, Tanjala T, Gipson, James, Wheless
Publikováno v:
Managed care (Langhorne, Pa.). 26(8)
Tuberous sclerosis complex (TSC) is a rare genetic disorder affecting the brain and other vital organs with varying symptoms and severity among patients. This study developed and validated a risk model to identify patients with TSC using large databa