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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Ivanova EL, Gilet JG, Sulimenko V, Duchon A, Rudolf G, Runge K, Collins SC, Asselin L, Broix L, Drouot N, Tilly P, Nusbaum P, Vincent A, Magnant W, Skory V, Birling MC, Pavlovic G, Godin JD, Yalcin B, Hérault Y, Dráber P, Chelly J, Hinckelmann MV. Ivanova EL, et al. Among authors: gilet jg. Nat Commun. 2019 May 13;10(1):2129. doi: 10.1038/s41467-019-10081-8. Nat Commun. 2019. PMID: 31086189 Free PMC article.
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
Broix L, Asselin L, Silva CG, Ivanova EL, Tilly P, Gilet JG, Lebrun N, Jagline H, Muraca G, Saillour Y, Drouot N, Reilly ML, Francis F, Benmerah A, Bahi-Buisson N, Belvindrah R, Nguyen L, Godin JD, Chelly J, Hinckelmann MV. Broix L, et al. Among authors: gilet jg. Hum Mol Genet. 2018 Jan 15;27(2):224-238. doi: 10.1093/hmg/ddx384. Hum Mol Genet. 2018. PMID: 29077851
Cortical hyperexcitability in mouse models and patients with amyotrophic lateral sclerosis is linked to noradrenaline deficiency.
Scekic-Zahirovic J, Benetton C, Brunet A, Ye X, Logunov E, Douchamps V, Megat S, Andry V, Kan VWY, Stuart-Lopez G, Gilet J, Guillot SJ, Dirrig-Grosch S, Gorin C, Trombini M, Dieterle S, Sinniger J, Fischer M, René F, Gunes Z, Kessler P, Dupuis L, Pradat PF, Goumon Y, Goutagny R, Marchand-Pauvert V, Liebscher S, Rouaux C. Scekic-Zahirovic J, et al. Sci Transl Med. 2024 Mar 13;16(738):eadg3665. doi: 10.1126/scitranslmed.adg3665. Epub 2024 Mar 13. Sci Transl Med. 2024. PMID: 38478631