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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study; Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J. Broix L, et al. Among authors: moise m. Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3. Nat Genet. 2016. PMID: 27694961 Free PMC article.
Acute necrosis of the corpus callosum.
Lambert N, Moïse M. Lambert N, et al. Among authors: moise m. Eur J Intern Med. 2023 Jan;107:95-96. doi: 10.1016/j.ejim.2022.10.008. Epub 2022 Oct 13. Eur J Intern Med. 2023. PMID: 36243624 No abstract available.
Multimodal imaging of a patient with RAB39B mutation.
Mackels L, Moïse M, Depierreux F. Mackels L, et al. Among authors: moise m. Neuroradiology. 2022 Mar;64(3):621-625. doi: 10.1007/s00234-021-02882-w. Epub 2022 Jan 27. Neuroradiology. 2022. PMID: 35088096
Conventional and advanced imaging throughout the cycle of care of gliomas.
Reuter G, Moïse M, Roll W, Martin D, Lombard A, Scholtes F, Stummer W, Suero Molina E. Reuter G, et al. Among authors: moise m. Neurosurg Rev. 2021 Oct;44(5):2493-2509. doi: 10.1007/s10143-020-01448-3. Epub 2021 Jan 7. Neurosurg Rev. 2021. PMID: 33411093 Review.
69 results