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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.
Thompson K, Bianchi L, Rastelli F, Piron-Prunier F, Ayciriex S, Besmond C, Hubert L, Barth M, Barbosa IA, Deshpande C, Chitre M, Mehta SG, Wever EJM, Marcorelles P, Donkervoort S, Saade D, Bönnemann CG, Chao KR, Cai C, Iannaccone ST, Dean AF, McFarland R, Vaz FM, Delahodde A, Taylor RW, Rötig A. Thompson K, et al. Among authors: besmond c. HGG Adv. 2022 Mar 4;3(2):100097. doi: 10.1016/j.xhgg.2022.100097. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35321494 Free PMC article.
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gérard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rötig A, Rozet JM, Besmond C. Metodiev MD, et al. Among authors: besmond c. J Med Genet. 2014 Dec;51(12):834-8. doi: 10.1136/jmedgenet-2014-102532. Epub 2014 Oct 28. J Med Genet. 2014. PMID: 25351951
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Pennisi A, Rötig A, Roux CJ, Lévy R, Henneke M, Gärtner J, Teke Kisa P, Sarioglu FC, Yiş U, Konczal LL, Burkardt DD, Wu S, Gaignard P, Besmond C, Hubert L, Rio M, Barcia G, Munnich A, Boddaert N, Schiff M. Pennisi A, et al. Among authors: besmond c. J Med Genet. 2022 Feb;59(2):204-208. doi: 10.1136/jmedgenet-2020-107367. Epub 2020 Nov 16. J Med Genet. 2022. PMID: 33199448
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Diaz J, Gérard X, Emerit MB, Areias J, Geny D, Dégardin J, Simonutti M, Guerquin MJ, Collin T, Viollet C, Billard JM, Métin C, Hubert L, Larti F, Kahrizi K, Jobling R, Agolini E, Shaheen R, Zigler A, Rouiller-Fabre V, Rozet JM, Picaud S, Novelli A, Alameer S, Najmabadi H, Cohn R, Munnich A, Barth M, Lugli L, Alkuraya FS, Blaser S, Gashlan M, Besmond C, Darmon M, Masson J. Diaz J, et al. Among authors: besmond c. Brain. 2020 Oct 1;143(10):2911-2928. doi: 10.1093/brain/awaa235. Brain. 2020. PMID: 33103737
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
Hully M, Ropars J, Hubert L, Boddaert N, Rio M, Bernardelli M, Desguerre I, Cormier-Daire V, Munnich A, de Lonlay P, Reilly L, Besmond C, Bahi-Buisson N. Hully M, et al. Among authors: besmond c. Neurogenetics. 2017 Jan;18(1):23-28. doi: 10.1007/s10048-016-0498-9. Epub 2016 Oct 10. Neurogenetics. 2017. PMID: 27726050
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.
Cavallin M, Hubert L, Cantagrel V, Munnich A, Boddaert N, Vincent-Delorme C, Cuvellier JC, Masson C, Besmond C, Bahi-Buisson N. Cavallin M, et al. Among authors: besmond c. Neurogenetics. 2016 Jan;17(1):79-82. doi: 10.1007/s10048-015-0459-8. Epub 2015 Sep 19. Neurogenetics. 2016. PMID: 26384676 No abstract available.
81 results