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14 results

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Page 1
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: thepault ra. 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.
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Halewa J, Marouillat S, Dixneuf M, Thépault RA, Ung DC, Chatron N, Gérard B, Ghoumid J, Lesca G, Till M, Smol T, Couque N, Ruaud L, Chune V, Grotto S, Verloes A, Vuillaume ML, Toutain A, Raynaud M, Laumonnier F. Halewa J, et al. Among authors: thepault ra. Hum Mutat. 2021 Jul;42(7):848-861. doi: 10.1002/humu.24208. Epub 2021 May 3. Hum Mutat. 2021. PMID: 33856728 Free PMC article.
LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability.
Tastet J, Cuberos H, Vallée B, Toutain A, Raynaud M, Marouillat S, Thépault RA, Laumonnier F, Bonnet-Brilhault F, Vourc'h P, Andres CR, Bénédetti H. Tastet J, et al. Among authors: thepault ra. Neuroscience. 2019 Feb 10;399:199-210. doi: 10.1016/j.neuroscience.2018.12.017. Epub 2018 Dec 27. Neuroscience. 2019. PMID: 30594563
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: thepault ra. Mol Psychiatry. 2024 Feb 28. doi: 10.1038/s41380-024-02469-w. Online ahead of print. Mol Psychiatry. 2024. PMID: 38418578
Sonic Hedgehog Signature in Pediatric Primary Bone Tumors: Effects of the GLI Antagonist GANT61 on Ewing's Sarcoma Tumor Growth.
Mullard M, Cadé M, Morice S, Dupuy M, Danieau G, Amiaud J, Renault S, Lézot F, Brion R, Thepault RA, Ory B, Lamoureux F, Corre I, Brounais-LeRoyer B, Rédini F, Verrecchia F. Mullard M, et al. Among authors: thepault ra. Cancers (Basel). 2020 Nov 19;12(11):3438. doi: 10.3390/cancers12113438. Cancers (Basel). 2020. PMID: 33228057 Free PMC article.
Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism.
Tastet J, Decalonne L, Marouillat S, Malvy J, Thépault RA, Toutain A, Paubel A, Tabagh R, Bénédetti H, Laumonnier F, Barthélémy C, Bonnet-Brilhault F, Andres CR, Vourc'h P. Tastet J, et al. Among authors: thepault ra. Psychiatr Genet. 2015 Dec;25(6):263-7. doi: 10.1097/YPG.0000000000000100. Psychiatr Genet. 2015. PMID: 26368817
14 results