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52 results

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Page 1
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Ung DC, Pietrancosta N, Badillo EB, Raux B, Tapken D, Zlatanovic A, Doridant A, Pode-Shakked B, Raas-Rothschild A, Elpeleg O, Abu-Libdeh B, Hamed N, Papon MA, Marouillat S, Thépault RA, Stevanin G, Elegheert J, Letellier M, Hollmann M, Lambolez B, Tricoire L, Toutain A, Hepp R, Laumonnier F. Ung DC, et al. Among authors: marouillat s. Mol Psychiatry. 2024 Apr;29(4):1205-1215. doi: 10.1038/s41380-024-02469-w. Epub 2024 Feb 28. Mol Psychiatry. 2024. PMID: 38418578 Free PMC article.
Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of a SOD1 Variant of Uncertain Significance.
Bedja-Iacona L, Forget A, Boisseau C, Marouillat S, Chudinova A, Veyrat-Durebex C, Guissart C, Lumbroso S, Raoul C, Andres CR, Blasco H, Couratier P, Corcia P, Verschueren A, Mouzat K, Vourc'h P. Bedja-Iacona L, et al. Among authors: marouillat s. Int J Mol Sci. 2025 Aug 1;26(15):7414. doi: 10.3390/ijms26157414. Int J Mol Sci. 2025. PMID: 40806541 Free PMC article.
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.
Ung DC, Iacono G, Méziane H, Blanchard E, Papon MA, Selten M, van Rhijn JR, Montjean R, Rucci J, Martin S, Fleet A, Birling MC, Marouillat S, Roepman R, Selloum M, Lux A, Thépault RA, Hamel P, Mittal K, Vincent JB, Dorseuil O, Stunnenberg HG, Billuart P, Nadif Kasri N, Hérault Y, Laumonnier F. Ung DC, et al. Among authors: marouillat s. Mol Psychiatry. 2018 May;23(5):1356-1367. doi: 10.1038/mp.2017.39. Epub 2017 Apr 18. Mol Psychiatry. 2018. PMID: 28416808 Free PMC article.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Audebert-Bellanger S, Bonneau D, Colin E, Denommé-Pichon AS, Gilbert-Dussardier B, Isidor B, Küry S, Odent S, Redon R, Khanna R, Dobyns WB, Bézieau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier F. Jeanne M, et al. Among authors: marouillat s. Am J Hum Genet. 2021 May 6;108(5):951-961. doi: 10.1016/j.ajhg.2021.04.004. Epub 2021 Apr 23. Am J Hum Genet. 2021. PMID: 33894126 Free PMC article.
52 results