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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: hubert l. Brain. 2020 Oct 1;143(10):2911-2928. doi: 10.1093/brain/awaa235. Brain. 2020. PMID: 33103737
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, Peters H, McGill J, Glamuzina E, Farrar M, von der Hagen M, Alexander IE, Kirmse B, Barth M, Laforet P, Benlian P, Munnich A, JeanPierre M, Elpeleg O, Pines O, Delahodde A, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: hubert l. J Inherit Metab Dis. 2012 Nov;35(6):1119-28. doi: 10.1007/s10545-012-9461-6. Epub 2012 Apr 6. J Inherit Metab Dis. 2012. PMID: 22481384
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C. Martinelli D, et al. Among authors: hubert l. Brain. 2013 Mar;136(Pt 3):872-81. doi: 10.1093/brain/awt012. Epub 2013 Feb 18. Brain. 2013. PMID: 23423674
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: hubert l. 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
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: hubert l. 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.
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: hubert l. Neurogenetics. 2017 Jan;18(1):23-28. doi: 10.1007/s10048-016-0498-9. Epub 2016 Oct 10. Neurogenetics. 2017. PMID: 27726050
Mutations in BOREALIN cause thyroid dysgenesis.
Carré A, Stoupa A, Kariyawasam D, Gueriouz M, Ramond C, Monus T, Léger J, Gaujoux S, Sebag F, Glaser N, Zenaty D, Nitschke P, Bole-Feysot C, Hubert L, Lyonnet S, Scharfmann R, Munnich A, Besmond C, Taylor W, Polak M. Carré A, et al. Among authors: hubert l. Hum Mol Genet. 2017 Feb 1;26(3):599-610. doi: 10.1093/hmg/ddw419. Hum Mol Genet. 2017. PMID: 28025328 Free PMC article.
168 results