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Page 1
A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis.
Pahlevan Kakhki M, Giordano A, Starvaggi Cucuzza C, Venkata S Badam T, Samudyata S, Lemée MV, Stridh P, Gkogka A, Shchetynsky K, Harroud A, Gyllenberg A, Liu Y, Boddul S, James T, Sorosina M, Filippi M, Esposito F, Wermeling F, Gustafsson M, Casaccia P, Hillert J, Olsson T, Kockum I, Sellgren CM, Golzio C, Kular L, Jagodic M. Pahlevan Kakhki M, et al. Among authors: golzio c. Nat Commun. 2024 Jul 30;15(1):6419. doi: 10.1038/s41467-024-50794-z. Nat Commun. 2024. PMID: 39079955 Free PMC article.
SINEUP RNA rescues molecular phenotypes associated with CHD8 suppression in Autism Spectrum Disorder model systems.
Di Leva F, Arnoldi M, Santarelli S, Massonot M, Lemée MV, Bon C, Pellegrini M, Castellini ME, Zarantonello G, Messina A, Bozzi Y, Bernier R, Zucchelli S, Casarosa S, Dassi E, Ronzitti G, Golzio C, Morandell J, Gustincich S, Espinoza S, Biagioli M. Di Leva F, et al. Among authors: golzio c. Mol Ther. 2024 Dec 30:S1525-0016(24)00843-8. doi: 10.1016/j.ymthe.2024.12.043. Online ahead of print. Mol Ther. 2024. PMID: 39741407 Free article.
The cohesin ATPase cycle is mediated by specific conformational dynamics and interface plasticity of SMC1A and SMC3 ATPase domains.
Vitoria Gomes M, Landwerlin P, Diebold-Durand ML, Shaik TB, Durand A, Troesch E, Weber C, Brillet K, Lemée MV, Decroos C, Dulac L, Antony P, Watrin E, Ennifar E, Golzio C, Romier C. Vitoria Gomes M, et al. Among authors: golzio c. Cell Rep. 2024 Sep 24;43(9):114656. doi: 10.1016/j.celrep.2024.114656. Epub 2024 Sep 5. Cell Rep. 2024. PMID: 39240714 Free article.
Improving laboratory animal genetic reporting: LAG-R guidelines.
Teboul L, Amos-Landgraf J, Benavides FJ, Birling MC, Brown SDM, Bryda E, Bunton-Stasyshyn R, Chin HJ, Crispo M, Delerue F, Dobbie M, Franklin CL, Fuchtbauer EM, Gao X, Golzio C, Haffner R, Hérault Y, Hrabe de Angelis M, Lloyd KCK, Magnuson TR, Montoliu L, Murray SA, Nam KH, Nutter LMJ, Pailhoux E, Pardo Manuel de Villena F, Peterson K, Reinholdt L, Sedlacek R, Seong JK, Shiroishi T, Smith C, Takeo T, Tinsley L, Vilotte JL, Warming S, Wells S, Whitelaw CB, Yoshiki A; Asian Mouse Mutagenesis Resource Association; CELPHEDIA infrastructure; INFRAFRONTIER consortium; International Mammalian Genome Society; International Mouse Phenotyping Consortium; International Society for Transgenic Technologies; Mutant Mouse Resource and Research Centers; Phenomics Australia; RRRC- Rat Resource and Research Center; Pavlovic G. Teboul L, et al. Among authors: golzio c. Nat Commun. 2024 Jul 2;15(1):5574. doi: 10.1038/s41467-024-49439-y. Nat Commun. 2024. PMID: 38956430 Free PMC article. Review.
Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits.
Kelly E, Meng F, Fujita H, Morgado F, Kazemi Y, Rice LC, Ren C, Escamilla CO, Gibson JM, Sajadi S, Pendry RJ, Tan T, Ellegood J, Basson MA, Blakely RD, Dindot SV, Golzio C, Hahn MK, Katsanis N, Robins DM, Silverman JL, Singh KK, Wevrick R, Taylor MJ, Hammill C, Anagnostou E, Pfeiffer BE, Stoodley CJ, Lerch JP, du Lac S, Tsai PT. Kelly E, et al. Among authors: golzio c. Nat Neurosci. 2020 Sep;23(9):1102-1110. doi: 10.1038/s41593-020-0665-z. Epub 2020 Jul 13. Nat Neurosci. 2020. PMID: 32661395 Free PMC article.
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
Asselin L, Rivera Alvarez J, Heide S, Bonnet CS, Tilly P, Vitet H, Weber C, Bacino CA, Baranaño K, Chassevent A, Dameron A, Faivre L, Hanchard NA, Mahida S, McWalter K, Mignot C, Nava C, Rastetter A, Streff H, Thauvin-Robinet C, Weiss MM, Zapata G, Zwijnenburg PJG, Saudou F, Depienne C, Golzio C, Héron D, Godin JD. Asselin L, et al. Among authors: golzio c. Nat Commun. 2020 May 15;11(1):2441. doi: 10.1038/s41467-020-16294-6. Nat Commun. 2020. PMID: 32415109 Free PMC article.
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A. Mattioli F, et al. Among authors: golzio c. Am J Hum Genet. 2020 Apr 2;106(4):438-452. doi: 10.1016/j.ajhg.2020.02.013. Epub 2020 Mar 19. Am J Hum Genet. 2020. PMID: 32197073 Free PMC article.
A dominant vimentin variant causes a rare syndrome with premature aging.
Cogné B, Bouameur JE, Hayot G, Latypova X, Pattabiraman S, Caillaud A, Si-Tayeb K, Besnard T, Küry S, Chariau C, Gaignerie A, David L, Bordure P, Kaganovich D, Bézieau S, Golzio C, Magin TM, Isidor B. Cogné B, et al. Among authors: golzio c. Eur J Hum Genet. 2020 Sep;28(9):1218-1230. doi: 10.1038/s41431-020-0583-2. Epub 2020 Feb 17. Eur J Hum Genet. 2020. PMID: 32066935 Free PMC article.
48 results