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Lorraine Fievet
Lorraine Fievet
IGBMC - Illkirch, France
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Year
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
982017
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
402020
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
272018
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
232019
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
12024
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
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