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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases.
Codjia P, Ayrignac X, Mochel F, Mouzat K, Carra-Dalliere C, Castelnovo G, Ellie E, Etcharry-Bouyx F, Verny C, Belliard S, Hannequin D, Marelli C, Nadjar Y, Le Ber I, Dorboz I, Samaan S, Boespflug-Tanguy O, Lumbroso S, Labauge P. Codjia P, et al. Among authors: nadjar y. AJNR Am J Neuroradiol. 2018 Sep;39(9):1657-1661. doi: 10.3174/ajnr.A5744. Epub 2018 Aug 16. AJNR Am J Neuroradiol. 2018. PMID: 30115677 Free PMC article.
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Mansour-Hendili L, Gitiaux C, Harion M, Latouche C, Heron B, Stojkovic T, Rama M, Smol T, Sophie Jourdain A, Mention K, Nadjar Y, Schiff M, Lemale J, Ghoumid J, Gottrand F, Talbotec C, Rötig A, Funalot B, Desguerre I. Mansour-Hendili L, et al. Among authors: nadjar y. Front Genet. 2024 Jan 29;15:1352006. doi: 10.3389/fgene.2024.1352006. eCollection 2024. Front Genet. 2024. PMID: 38348452 Free PMC article.
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations.
Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Da Costa B, Le Guédard M, Stojkovic T, Loundon N, Rouillon I, Nadjar Y, Letellier T, Jonard L, Marlin S, Rocher C. Gutiérrez Cortés N, et al. Among authors: nadjar y. Hum Mol Genet. 2020 Apr 15;29(6):980-989. doi: 10.1093/hmg/ddaa020. Hum Mol Genet. 2020. PMID: 32011699
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Jurkute N, Shanmugarajah PD, Hadjivassiliou M, Higgs J, Vojcic M, Horrocks I, Nadjar Y, Touitou V, Lenaers G, Poh R, Acheson J, Robson AG, Raymond FL, Reilly MM, Yu-Wai-Man P, Moore AT, Webster AR, Arno G; Genomics England Research Consortium. Jurkute N, et al. Among authors: nadjar y. Invest Ophthalmol Vis Sci. 2021 May 3;62(6):2. doi: 10.1167/iovs.62.6.2. Invest Ophthalmol Vis Sci. 2021. PMID: 33938912 Free PMC article.
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders.
Mandia D, Plaze M, Le Ber I, Ewenczyk C, Morin A, Carle G, Consoli A, Degardin A, Amad A, Moreau C, Anheim M, Tranchant C, Mélé N, Roue-Jagot C, Lagarde J, Sarazin M, Hamelin L, Ellul P, Pagan C, Pettazzoni M, Bekri S, Belliard S, Goizet C, Wallon D, Lamari F, Nadjar Y. Mandia D, et al. Among authors: nadjar y. J Neurol. 2020 Nov;267(11):3371-3377. doi: 10.1007/s00415-020-10020-4. Epub 2020 Jun 26. J Neurol. 2020. PMID: 32592146
51 results