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The diagnostic workup of children with the radiologically isolated syndrome differs by age and by sex.
Makhani N, Lebrun-Frenay C, Siva A, Shabanova V, Wassmer E, Santoro JD, Narula S, Brenton JN, Mar S, Durand-Dubief F, Zephir H, Mathey G, Rojas JI, de Seze J, Tenembaum S, Stone RT, Casez O, Carra-Dallière C, Neuteboom RF, Ahsan N, Arroyo HA, Cabre P, Gombolay G, Inglese M, Louapre C, Margoni M, Palavra F, Pohl D, Reich DS, Ruet A, Thouvenot E, Timby N, Tintore M, Uygunoglu U, Vargas W, Venkateswaran S, Verhelst H, Wickstrom R, Azevedo CJ, Kantarci O, Shapiro ED, Okuda DT, Pelletier D; Observatoire Francophone de la Sclérose en Plaques (OFSEP), Société Francophone de la Sclérose en Plaques (SFSEP), Radiologically Isolated Syndrome Consortium (RISC), and the Pediatric Radiologically Isolated Syndrome Consortium (PARIS). Makhani N, et al. Among authors: arroyo ha. J Neurol. 2024 Apr 2. doi: 10.1007/s00415-024-12289-1. Online ahead of print. J Neurol. 2024. PMID: 38564056
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS. Kevelam SH, et al. Among authors: arroyo ha. Neurology. 2013 Apr 23;80(17):1577-83. doi: 10.1212/WNL.0b013e31828f1914. Epub 2013 Apr 3. Neurology. 2013. PMID: 23553477 Free PMC article.
45 results