Results 101 to 110 of about 46,855 (284)

Epitheloid Variant of Angiomyolipoma in a Patient with Tuberous Sclerosis. [PDF]

, 2013
Epitheloid angiomyolipoma of kidney is a type of Perivascular endothelial cell derived tumor with an aggressive behaviour with specific pathological, immunohistochemistrical and genetic characteristics.
Amirtham, U, Challa, VR, Goud, BYG, Rangappa, P, Swamyvelu, K   +4 more
core   +1 more source

Transition into adulthood: Tuberous sclerosis complex, S turge‐ W eber syndrome, and R asmussen encephalitis [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108590/1/epi12722 ...
Chugani, Harry T., Granata, Tiziana, Matricardi, Sara, Thiele, Elizabeth A.   +3 more
core   +1 more source

From mechanism to phenotype: What fits in a basket trial

Epilepsia, EarlyView.
Kette D. Valente
wiley   +1 more source

Clock gene dysregulation in epilepsy: A systematic review

Epilepsia Open, EarlyView.
Abstract Objective Epileptic seizures show a rhythmic pattern, being more frequent at particular times of the day (e.g., only occurring during sleep), suggesting a role of the circadian rhythm. Clock genes regulate the circadian rhythm and might be involved in the pathophysiology of epilepsy.
Guilherme Fernandes‐Campos, Arjune Sen, Francesca Panin, Krithika Sundararaman   +3 more
wiley   +1 more source

Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. [PDF]

, 2015
BACKGROUND: Tuberous sclerosis complex is a multisystem genetic disease, caused by mutation in the TSC1 or TSC2 genes, associated with many features, including intellectual disability (ID).
de Vries, Petrus J, Howe, Christopher J, Lewis, Julia C, McCartney, Deborah L, Sampson, Julian R, Wong, Ho Tin   +5 more
core   +2 more sources

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, EarlyView.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source

Mutation of the co-chaperone Tsc1 in bladder cancer diminishes Hsp90 acetylation and reduces drug sensitivity and selectivity [PDF]

, 2019
The molecular chaperone Heat shock protein 90 (Hsp90) is essential for the folding, stability, and activity of several drivers of oncogenesis. Hsp90 inhibitors are currently under clinical evaluation for cancer treatment, however their efficacy is ...
Backe, Sarah J, Baker-Williams, Alexander J, Bourboulia, Dimitra, Bratslavsky, Gennady, Bratslavsky, Michael S, Hughes, Michael, Jacob, Joseph M, Mollapour, Mehdi, Sager, Rebecca A, Shapiro, Oleg, Wong, Michael, Woodford, Mark R   +11 more
core   +1 more source

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex [PDF]

, 2009
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues.
AC Jones, Ans van den Ouweland, David Kwiatkowski, DH Lee, Dicky Halley, DT Jones, ES Roach, IF Fokkema, J Huang, Johan T den Dunnen, Julian Sampson, K-S Au, LS Pymar, M Nellist, M Nellist, M Nellist, M Nellist, M Rosner, M van Slegtenhorst, M van Slegtenhorst, Marianne Hoogeveen-Westerveld, Mark Nellist, Melika Mozaffari, O Sancak, PC Ng, PC Ng, R Adamczak, R Coevoets, R Grantham, RG Cotton, Rosemary Ekong, S Henikoff, SL Cai, SL Dabora, Sue Povey, The European Chromosome 16 Tuberous Sclerosis Consortium, Y Li, Y Niida   +37 more
core   +7 more sources

Clinical outcomes and learning curve of MRgLITT system for drug‐resistant epilepsy in China: A single‐center retrospective study

Epilepsia Open, EarlyView.
Abstract Objective Magnetic resonance‐guided laser interstitial thermal therapy (MRgLITT) is a minimally invasive technique that allows for real‐time magnetic resonance imaging (MRI) monitoring and precise ablation of epileptogenic lesions. This study reports our initial clinical experience with a domestically developed MRgLITT system in patients with ...
Sichang Chen, Yang Dai, Xiaotong Fan, Yihe Wang, Penghu Wei, Yongzhi Shan, Guoguang Zhao   +6 more
wiley   +1 more source

VATS therapy of chylothorax caused by leiomyomatosis complicated with tuberous sclerosis complex

Journal of Minimal Access Surgery, 2013
Lymphangioleiomyomatosis with tuberous sclerosis complex is a rare disease. One of the most frequent complications of lymphangioleiomyomatosis is pleural effusion (chylothorax) wich can be treated with the use of VATS.
Adrienn Csiszkó, György Herr, Sándor Sz. Kiss, Judit Hallay, Zoltán Gyöngyösi, Zsolt Szentkereszty   +5 more
doaj   +1 more source