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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
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
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Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.
Gilet JG, Ivanova EL, Trofimova D, Rudolf G, Meziane H, Broix L, Drouot N, Courraud J, Skory V, Voulleminot P, Osipenko M, Bahi-Buisson N, Yalcin B, Birling MC, Hinckelmann MV, Kwok BH, Allingham JS, Chelly J.
Gilet JG, et al.
Hum Mol Genet. 2020 Mar 27;29(5):766-784. doi: 10.1093/hmg/ddz316.
Hum Mol Genet. 2020.
PMID: 31919497
Free PMC article.
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Evidence that corticofugal propagation of ALS pathology is not mediated by prion-like mechanism.
Scekic-Zahirovic J, Fischer M, Stuart-Lopez G, Burg T, Gilet J, Dirrig-Grosch S, Marques C, Birling MC, Kessler P, Rouaux C.
Scekic-Zahirovic J, et al.
Prog Neurobiol. 2021 May;200:101972. doi: 10.1016/j.pneurobio.2020.101972. Epub 2020 Dec 9.
Prog Neurobiol. 2021.
PMID: 33309802
Free article.
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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
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