Results 131 to 140 of about 13,250 (289)

Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis [PDF]

, 2013
The protein products of the tuberous sclerosis complex (TSC) genes, TSC1 and TSC2, form a complex, which inhibits the small G-protein, Ras homolog enriched in brain (Rheb).
Henske, Elizabeth Petri, Neuman, Nicole A   +1 more
core   +1 more source

Pregnancy in lymphangioleiomyomatosis: clinical and lung function outcomes in two national cohorts

Thorax, 2020
Pregnancy in women with lymphangioleiomyomatosis (LAM) has been associated with increased complications and worsening lung function although objective data to advise patients are not available.
A. Taveira-DaSilva, S. Johnson, P. Julien‐Williams, Janice Johnson, M. Stylianou, J. Moss   +5 more
semanticscholar   +1 more source

Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry. [PDF]

, 2019
Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare ...
Belousoye, Elena, Benedik, Mirjana P, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, D'Amato, Lisa, d'Augeres, Guillaume Beaure, Dahlin, Maria, de Vries, Petrus J, Ferreira, Jose C, Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C, Jozwiak, Sergiusz, Kingswood, John C, Lawson, John A, Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, TOSCA Consortium and TOSCA Investigators, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard   +29 more
core   +3 more sources

Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex

Epilepsia, Volume 66, Issue 1, Page 117-133, January 2025.
Abstract Objective Epilepsy and intellectual disability are common in tuberous sclerosis complex (TSC). Although early life seizures and intellectual disability are known to be correlated in TSC, the differential effects of age at seizure onset and accumulated seizure burden on development remain unclear.
S. Katie Z. Ihnen, Samuel Alperin, Jamie K. Capal, Alexander L. Cohen, Jurriaan M. Peters, E. Martina Bebin, Hope A. Northrup, Mustafa Sahin, Darcy A. Krueger, the TACERN Study Group   +9 more
wiley   +1 more source

Benign metastasizing leiomyoma of the lung [PDF]

, 2013
Benign leiomyomas of the uterus are uncommonly found in association with benign smooth muscle tumors beyond the confines of the uterus. Benign metastasizing leiomyoma (BML) is a rare disease in which the lung is described to be the most afflicted ...
Eun Ki, Jong Park, Keun Lee, Seon Hwang, Soo Hur   +4 more
core   +1 more source

Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID‐19: The experience of a TSC clinic in Italy

American Journal of Medical Genetics. Part A, 2020
Individuals with comorbidities are at higher risk of coronavirus disease 2019 (COVID‐19) and worse outcome, but little information has been available about patients with genetic diseases and COVID‐19.
A. Peron, F. La Briola, F. Bruschi, S. Terraneo, C. Vannicola, Roberto Previtali, Sabrina Perazzoli, E. Morenghi, G. Bulfamante, A. Vignoli, M. Canevini   +10 more
semanticscholar   +1 more source

Lymphangiography to treat postoperative lymphatic leakage: a technical review. [PDF]

, 2014
In addition to imaging the lymphatics and detecting various types of lymphatic leakage, lymphangiography is a therapeutic option for patients with chylothorax, chylous ascites, and lymphatic fistula.
Kim, Soo Hwan, Ko, Heung Kyu, Lee, Edward Wolfgang, Park, Jihong, Shin, Ji Hoon, Sung, Kyu-Bo   +5 more
core   +1 more source

Restricted mean models for transplant benefit and urgency [PDF]

, 2012
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90378/1/sim4450 ...
Andersen, Cox, Crowley, Egan, Graw, Kaplan, Robins, Robins, Satten, Satten, Scharfstein, Yusen   +11 more
core   +1 more source

Analysis of transplant urgency and benefit via multiple imputation [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/109279/1/sim6250 ...
Andersen, Cox, Egan, Faucett, Harrel, Harrell, Heitjan, Hsu, Kaplan, Little, Liu, Mantel, Robins, Robins, Rubin, Satten, Savage, Scharfstein, Schenker, Taylor, Wei, Xiang, Yusen   +22 more
core   +1 more source

Safety and efficacy of combined resveratrol and sirolimus in lymphangioleiomyomatosis.

Chest, 2023
N. Gupta, Bin Zhang, Yuan Zhou, F. McCormack, R. Ingledue, Nathan Robbins, E. Kopras, Susan McMahan, A. Singla, J. Swigris, Adam G Cole, M. Holz   +11 more
semanticscholar   +1 more source