Discover the SciOpen Platform and Achieve Your Research Goals with Ease.
Search articles, authors, keywords, DOl and etc.
Gordo G, Tenorio J, Arias P, et al. mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review. Clin Genet. 2018;93(4):762–775.
Liu AC, Shen Y, Serbinski CR, et al. Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior. HGG Adv. 2024;5(4):100333.
Carli D, Ferrero GB, Fusillo A, et al. A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. Clin Genet. 2021;99(5):719–723.
Nakashima M, Saitsu H, Takei N, et al. Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann Neurol. 2015;78(3):375–386.
Besterman AD, Althoff T, Elfferich P, et al. Functional and structural analyses of novel Smith-Kingsmore Syndrome-associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. PLoS Genet. 2021;17(7):e1009651.
This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).