Exome-wide association study identifies GREB1L mutations in congenital kidney malformations S Sanna-Cherchi, K Khan, R Westland, P Krithivasan, L Fievet, ... The American Journal of Human Genetics 101 (5), 789-802, 2017 | 98 | 2017 |
Mutations in the kinesin-2 motor KIF3B cause an autosomal-dominant ciliopathy B Cogné, X Latypova, LDS Senaratne, L Martin, DC Koboldt, G Kellaris, ... The American Journal of Human Genetics 106 (6), 893-904, 2020 | 40 | 2020 |
The complexity of the cilium: spatiotemporal diversity of an ancient organelle W Heydeck, L Fievet, EE Davis, N Katsanis Current opinion in cell biology 55, 139-149, 2018 | 27 | 2018 |
Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors S Carrillo-Rosas, C Weber, L Fievet, N Messaddeq, A Karam, Y Trottier Human molecular genetics 28 (6), 912-927, 2019 | 23 | 2019 |
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities M Scala, K Khan, C Beneteau, RG Fox, S von Hardenberg, A Khan, ... Genetics in Medicine 26 (4), 101057, 2024 | 1 | 2024 |
AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model A Niewiadomska-Cimicka, L Fievet, M Surdyka, E Jesion, C Keime, ... International Journal of Molecular Sciences 25 (8), 4354, 2024 | | 2024 |
I03 CAG-targeted brain-permeable protein lowering strategy tested in polyQ mouse models M Surdyka, A Niewiadomska-Cimicka, Z Kalinowska-Poska, E Jesion, ... Journal of Neurology, Neurosurgery & Psychiatry 93 (Suppl 1), A85-A86, 2022 | | 2022 |
ARN non-codants et protéines effecteurs de la biologie du cil L FIEVET université de Duke RAPPORTEURS: Dr BACHMANN-GAGESCU Ruxandra Professeures …, 2019 | | 2019 |
Non-coding RNA and protein effectors of ciliary biology: identification of let-7b as a modulator of ciliogenesis and putative ciliary roles for Ataxin-7 in spinocerebellar ataxia 7 L Fievet Université de Strasbourg, 2019 | | 2019 |
ARN non-codants et protéines effecteurs de la biologie du cil: identification du microARN let-7b comme modulateur de la ciliogenèse et rôle ciliaire putatif de l'Ataxine-7 dans … L Fievet Strasbourg, 2019 | | 2019 |