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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B. Besnard T, et al. Among authors: wiedemann a. Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6. Genet Med. 2019. PMID: 30723320 Free article.
[Cyclic vomiting syndrome in children].
Brezin F, Wiedemann A, Feillet F. Brezin F, et al. Among authors: wiedemann a. Arch Pediatr. 2017 Nov;24(11):1129-1136. doi: 10.1016/j.arcped.2017.08.010. Epub 2017 Sep 22. Arch Pediatr. 2017. PMID: 28947248 French.
Efficacy of low dose nitisinone in the management of alkaptonuria.
Sloboda N, Wiedemann A, Merten M, Alqahtani A, Jeannesson E, Blum A, Henn-Ménétré S, Guéant JL, Renard E, Feillet F. Sloboda N, et al. Among authors: wiedemann a. Mol Genet Metab. 2019 Jul;127(3):184-190. doi: 10.1016/j.ymgme.2019.06.006. Epub 2019 Jun 19. Mol Genet Metab. 2019. PMID: 31235217
SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders.
Ghemrawi R, Arnold C, Battaglia-Hsu SF, Pourié G, Trinh I, Bassila C, Rashka C, Wiedemann A, Flayac J, Robert A, Dreumont N, Feillet F, Guéant JL, Coelho D. Ghemrawi R, et al. Among authors: wiedemann a. Metabolism. 2019 Dec;101:153992. doi: 10.1016/j.metabol.2019.153992. Epub 2019 Oct 28. Metabolism. 2019. PMID: 31672445
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D. Staufner C, et al. Among authors: wiedemann a. Genet Med. 2020 Mar;22(3):610-621. doi: 10.1038/s41436-019-0698-4. Epub 2019 Nov 25. Genet Med. 2020. PMID: 31761904 Free article.
[Phenylketonuria, from diet to gene therapy].
Wiedemann A, Oussalah A, Jeannesson É, Guéant JL, Feillet F. Wiedemann A, et al. Med Sci (Paris). 2020 Aug-Sep;36(8-9):725-734. doi: 10.1051/medsci/2020127. Epub 2020 Aug 21. Med Sci (Paris). 2020. PMID: 32821049 Free article. Review. French.
395 results