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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. Legati A, et al. Among authors: giovannini d. Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938945 Free PMC article.
XPR1 mutations are a rare cause of primary familial brain calcification.
Anheim M, López-Sánchez U, Giovannini D, Richard AC, Touhami J, N'Guyen L, Rudolf G, Thibault-Stoll A, Frebourg T, Hannequin D, Campion D, Battini JL, Sitbon M, Nicolas G. Anheim M, et al. Among authors: giovannini d. J Neurol. 2016 Aug;263(8):1559-64. doi: 10.1007/s00415-016-8166-4. Epub 2016 May 26. J Neurol. 2016. PMID: 27230854
Bidirectional genome-wide CRISPR screens reveal host factors regulating SARS-CoV-2, MERS-CoV and seasonal HCoVs.
Rebendenne A, Roy P, Bonaventure B, Chaves Valadão AL, Desmarets L, Arnaud-Arnould M, Rouillé Y, Tauziet M, Giovannini D, Touhami J, Lee Y, DeWeirdt P, Hegde M, Urbach S, Koulali KE, de Gracia FG, McKellar J, Dubuisson J, Wencker M, Belouzard S, Moncorgé O, Doench JG, Goujon C. Rebendenne A, et al. Among authors: giovannini d. Nat Genet. 2022 Aug;54(8):1090-1102. doi: 10.1038/s41588-022-01110-2. Epub 2022 Jul 25. Nat Genet. 2022. PMID: 35879413
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Among authors: giovannini d. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.
Clonal conditional mutagenesis in malaria parasites.
Combe A, Giovannini D, Carvalho TG, Spath S, Boisson B, Loussert C, Thiberge S, Lacroix C, Gueirard P, Ménard R. Combe A, et al. Among authors: giovannini d. Cell Host Microbe. 2009 Apr 23;5(4):386-96. doi: 10.1016/j.chom.2009.03.008. Cell Host Microbe. 2009. PMID: 19380117 Free article.
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