Results 131 to 140 of about 5,403,298 (185)

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project. [PDF]

J Neurodev Disord, 2020
de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, D'Amato L, Beure d'Augères G, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC, Jansen AC, TOSCA Consortium and TOSCA Investigators.   +28 more
europepmc   +1 more source

Exploring the use of smartphone monitoring for young adults with Tuberous Sclerosis Complex (TSC): a qualitative analysis. [PDF]

Orphanet J Rare Dis
Fifield K, Blackford K, Snaith B, Singhania A, Tye C, Simblett S.   +5 more
europepmc   +1 more source

Kidney Cyst Epithelia in Tuberous Sclerosis Complex (TSC) Exhibit Propagation and Expansion of A-Intercalated, but Loss of B-Intercalated and Principal Cells: The Role of FOXI1, FOXP1, and DMRT2 Transcription Factors. [PDF]

Int J Mol Sci
Soleimani M, Zahedi K, Brooks M, In JG, Barone S.   +4 more
europepmc   +1 more source

Diagnostic accuracy of T2-hypointensity in determining the epileptogenic lesion on unmyelinated brain MRI in infants with tuberous sclerosis complex (TSC). [PDF]

Brain Commun
Ebel M, Stevering CH, Holubova Z, Lequin MH, Kyncl M, Straka B, Hulshof HM, Jahodova A, Kudr M, Braun KPJ, Jansen FE, Krsek P.   +11 more
europepmc   +1 more source

Evaluation of Cortical Gyrification in Tuberous Sclerosis Complex: A Monocentric Retrospective Case-Control Study.

reservedIntroduzione: Il Complesso Sclerosi Tuberosa (TSC) è caratterizzato, a livello corticale, dalla presenza dei tuberi che determinano una profonda alterazione citoarchitetturale della corteccia e possono causare epilessia farmaco-resistente ...
BRUNELLO, FRANCESCO
core  

Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland. [PDF]

J Rare Dis (Berlin)
Vasseghi M, Behan C, Connolly A, Cunningham D, Dempsey E, Flynn C, Galvin M, Griffin G, Moloney P, Murphy M, Owen Y, O'Malley S, O'Rourke G, O'Sullivan O, Doherty CP.   +14 more
europepmc   +1 more source

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. [PDF]

Front Neurol, 2019
Annear NMP, Appleton RE, Bassi Z, Bhatt R, Bolton PF, Crawford P, Crowe A, Tossi M, Elmslie F, Finlay E, Gale DP, Henderson A, Jones EA, Johnson SR, Joss S, Kerecuk L, Lipkin G, Morrison PJ, O'Callaghan FJ, Cadwgan J, Ong ACM, Sampson JR, Shepherd C, Kingswood JC.   +23 more
europepmc   +1 more source

Expression of the anti-apoptotic protein survivin amd altered function of IGF-1 pathway in TSC2 brain tubers

, 2007
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome characterized by multiorgan development of benign and occasional malignant tumors. The neurological manifestations include epilepsy, developmental delay, mental retardation, and autism ...
V. Grande, M.P. Canevini, L. Madaschi, E. Isaia, E. Lesma, L. Tassi, A.M. Di Giulio, A. Gorio   +7 more
core  

Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives. [PDF]

Ther Clin Risk Manag, 2019
Overwater IE, Rietman AB, van Eeghen AM, de Wit MCY.   +3 more
europepmc   +1 more source

Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol. [PDF]

Orphanet J Rare Dis
Driedger JH, Schröter J, PROTECT-Study Group, Syrbe S, Saffari A.   +4 more
europepmc   +1 more source