NFB-16. mTOROPATHIES AND SUBEPENDYMAL GIANT CELL ASTROCYTOMAS: PREDICTIVE VALUE OF GERMINAL TSC1/2 MUTATIONS SCREENING IN FAMILIAL CASES

mTOR controls several important aspects of cell function particularly in the nervous system. Its hyperactivation has been involved in tuberous sclerosis complex (TSC) and other mTORopathies as well as drug-resistant epilepsy. Mutations in TSC1 and TSC2 genes cause loss of normal inhibition of mTORC1...

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Podrobná bibliografie
Vydáno v:Neuro Oncol
Hlavní autoři: Abdelmoula, Nouha Bouayed, Smaoui, Walid, Abdelmoula, Balkiss, Aloulou, Samir, Masmoudi, Imen, Bouaziz, Imen, Lamloum, Ines, Chaari, Hadil, Yaich, Asma, Dhouib, Rafik, Sellami, Sonia, Keskes, Mariem, Fellah, Sourour, Khlifi, Khawla, Medhioub, Amir, Mhiri, Nabil
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
Témata:
Neurofibromatosis
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7715975/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/neuonc/noaa222.618
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