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Annals of Neurology|May 31, 2013
TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult miceElisabeth Abs, Susanna M I Goorden, Jadwiga Schreiber, et al.
Journal of the National Comprehensive Cancer Network : JNCCN|April 11, 2018
Biallelic TSC2 Mutations in a Patient With Chromophobe Renal Cell Carcinoma Showing Extraordinary Response to TemsirolimusPablo Maroto, Georgia Anguera, Juan Maria Roldan-Romero, et al.
European Journal of Human Genetics : EJHG|October 16, 2004
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complexMark Nellist, Ozgur Sancak, Miriam A Goedbloed, et al.
Human Mutation|December 5, 2019
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findingsLuiz G Dufner Almeida, Santoesha Nanhoe, Andrea Zonta, et al.
The Journal of Biological Chemistry|August 15, 2002
Identification and characterization of the interaction between tuberin and 14-3-3zetaMark Nellist, Miriam A Goedbloed, Christa de Winter, et al.
Scientific Reports|June 20, 2020
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complexThomas Rosengren, Santoesha Nanhoe, Luis Gustavo Dufner de Almeida, et al.
Brain Pathology (Zurich, Switzerland)|July 19, 2012
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammationAvanita S Prabowo, Jasper J Anink, Martin Lammens, et al.
Plos Genetics|July 1, 2021
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicityAaron D Besterman, Thorsten Althoff, Peter Elfferich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 5, 2020
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1Myrthe J Ottenhoff, André B Rietman, Sabine E Mous, et al.
Scientific Reports|September 29, 2015
PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis ComplexMaria M Alves, Gwenny M Fuhler, Karla C S Queiroz, et al.
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