Results 101 to 110 of about 42,064 (302)

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness [PDF]

, 2018
BACKGROUND: Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications.
Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, D' Amato, L, d'Augères, GB, Dahlin, M, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jansen, AC, Jozwiak, S, Kingswood, JC, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, TOSCA Consortium and TOSCA Investigators, Touraine, R, Youroukos, S, Zonnenberg, B   +29 more
core   +1 more source

Tumour Cell Size Control and Its Impact on Tumour Cell Function

Cell Proliferation, EarlyView.
The regulatory mechanism of the size of tumour cells and its impact on the functions of tumour cells, as well as a summary of potential therapeutic targets for the corresponding mechanisms. ABSTRACT Cell size is an important component of cell morphological characteristics.
Min Zhou, Mei Zhou, Yang Jin
wiley   +1 more source

Deep developmental phenotyping in children with tuberous sclerosis complex, with and without autism

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16312 Abstract Aim To characterize autism and co‐occurring tuberous sclerosis‐associated neuropsychiatric disorders (TAND) in children with tuberous sclerosis complex (TSC), addressing evidence gaps by using deep developmental phenotyping in a single cohort.
Rebecca A. Mitchell, Francesca Lami, Sarah M. Barton, A. Simon Harvey, Katrina Williams   +4 more
wiley   +1 more source

Neuroinflammatory targets and treatments for epilepsy validated in experimental models [PDF]

, 2017
A large body of evidence that has accumulated over the past decade strongly supports the role of inflammation in the pathophysiology of human epilepsy.
Abraham, Abs, Akin, Aronica, Aronica, Ashraf, Auvin, Bar-Klein, Basler, Bhala, Bozzi, Cacheaux, Cerri, Citraro, Dianzani, Diaz-Hernandez, Dityatev, Drion, Engel, Fabene, Friedman, Fu, Fukasawa, Galanopoulou, Ganesh, Gorter, Groettrup, Groettrup, He, Heinemann, Henshall, Holtman, Huang, Iori, Iyer, Jiang, Jimenez-Pacheco, Jimenez-Pacheco, Jung, Kim, Kim, Kwon, Liang, Liepe, Louboutin, Louboutin, Marchi, Maroso, Maroso, Marusich, McRae, Mishto, Mishto, Mishto, Mishto, Mishto, Noe, Nomura, O'Neill, Podojil, Polascheck, Pollock, Prabowo, Quan, Ravizza, Ravizza, Rojas, Rojas, Rojas, Rojas, Roseti, Roseti, Ruden, Sadowski, Scheppingen, Scheppingen, Serrano, Takenouchi, Thalhammer, Varvel, Vezzani, Vezzani, Vezzani, Vezzani, Vezzani, Vliet, Vliet, Volonte, Vries, Wei, Zanker, Zeng, Zhang   +92 more
core   +4 more sources

mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis. [PDF]

, 2016
Several preclinical and some clinical studies have revealed that the mammalian target of rapamycin (mTOR) signaling pathway is involved in both genetic and acquired epilepsy syndromes.
Citraro, R, Constanti, A, Leo, A, Russo, E, Sarro, G   +4 more
core   +1 more source

Cortical hemodynamics of electrographic status epilepticus in the critically ill

Epilepsia, Volume 66, Issue 3, Page 802-816, March 2025.
Abstract Objectives The pathophysiological mechanisms of status epilepticus (SE) underlying potential brain injury remain largely unclear. This study aims to employ functional near‐infrared spectroscopy (fNIRS) combined with video‐electroencephalography (vEEG) to monitor brain hemodynamics continuously and non‐invasively in critically ill adult ...
Ali Kassab, Dènahin H. Toffa, Manon Robert, Michaël Chassé, Frédéric Lesage, Ke Peng, Dang K. Nguyen   +6 more
wiley   +1 more source

End-stage renal failure in adults with the tuberous sclerosis complex [PDF]

, 1999
A Clarke
openalex   +1 more source

Incidence of childhood and youth epilepsy: A population‐based prospective cohort study utilizing current International League Against Epilepsy classifications for seizures, syndromes, and etiologies

Epilepsia, Volume 66, Issue 3, Page 776-789, March 2025.
Abstract Objective This study was undertaken to describe incidence and distribution of seizures, etiologies, and epilepsy syndromes in the general child and youth population, using the current International League Against Epilepsy (ILAE) classifications. Methods The study platform is the Norwegian Mother, Father, and Child Cohort Study (MoBa). Epilepsy
Truls Vikin, Morten I. Lossius, Ragnhild E. Brandlistuen, Richard F. Chin, Kari M. Aaberg   +4 more
wiley   +1 more source

Tuberous sclerosis complex presenting as pulmonary lymphangioleiomyomatosis - a clinicoradiological diagnosis

The Pan African Medical Journal, 2015
Tuberous sclerosis complex (TSC) manifests predominantly as a neurocutaneous disorder. Lymphangioleiomyomatosis (LAM) is a rare pulmonary manifestation of TSC.
Kamini Gupta, Amit Goyal, Kavita Saggar, Avik Banerjee   +3 more
doaj   +1 more source

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. [PDF]

, 1996
Radek Vrtěl, Senno Verhoef, K. Bouman, Magitha M. Maheshwar, Mark Nellist, Anthonie J. van Essen, Petra L. Bakker, Caroline Hermans, Margreet Th.E. Bink‐Boelkens, Ruurd M. van Elburg, M. Hoff, Dick Lindhout, Julian R. Sampson, D. J. J. Halley, A M van den Ouweland   +14 more
openalex   +1 more source