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Page 1
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. 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.
An update on the leukodsytrophies.
Schiffmann R, Boespflüg-Tanguy O. Schiffmann R, et al. Curr Opin Neurol. 2001 Dec;14(6):789-94. doi: 10.1097/00019052-200112000-00018. Curr Opin Neurol. 2001. PMID: 11723390 Review.
Case definition and classification of leukodystrophies and leukoencephalopathies.
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Vanderver A, et al. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria.
Ayrignac X, Carra-Dallière C, Codjia P, Mouzat K, Castelnovo G, Ellie E, Etcharry-Bouyx F, Belliard S, Marelli C, Portet F, Le Ber I, Durand-Dubief F, Mathey G, Stankoff B, Dorboz I, Drunat S, Boespflug-Tanguy O, Menjot de Champfleur N, Lumbroso S, Mochel F, Labauge P. Ayrignac X, et al. Eur J Neurol. 2022 Jan;29(1):329-334. doi: 10.1111/ene.15115. Epub 2021 Sep 28. Eur J Neurol. 2022. PMID: 34541732
Ovarian failure related to eukaryotic initiation factor 2B mutations.
Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O. Fogli A, et al. Am J Hum Genet. 2003 Jun;72(6):1544-50. doi: 10.1086/375404. Epub 2003 Apr 21. Am J Hum Genet. 2003. PMID: 12707859 Free PMC article.
208 results