Associated Papers
Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.
Liu AC et al.
Hgg Advances, 2024
39030910 (PubMed )
Supplement: mmc5.pdf
Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children.
Simonelli V et al.
Clinical Neurophysiology Practice, 2024
Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.
Frank MS et al.
Cancers, 2021
35008297 (PubMed )
Supplement: cancers-14-00132-s001.zip › Supplementary_Table_S1.xlsx › Overview_ver2
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Besterman AD et al.
Plos Genetics, 2021
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G et al.
Clinical Genetics, 2018
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Møller RS et al.
Neurology. Genetics, 2016
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