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Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy.
Mosbah H, Vatier C, Andriss B, Belalem I, Delemer B, Janmaat S, Jéru I, Le Collen L, Maiter D, Nobécourt E, Vantyghem MC; Network « Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité » (PRISIS); Vigouroux C, Dumas A. Mosbah H, et al. Eur J Endocrinol. 2024 Jan 3;190(1):23-33. doi: 10.1093/ejendo/lvad169. Eur J Endocrinol. 2024. PMID: 38128113
Hippocampal and neocortical BRAF mutant non-expansive lesions in focal epilepsies.
Lerond J, Mathon B, Scopin M, Nichelli L, Guégan J, Bertholle C, Izac B, Andrieu M, Gareau T, Donneger F, Mohand Oumoussa B, Letourneur F, Tran S, Bertrand M, Le Roux I, Touat M, Dupont S, Poncer JC, Navarro V, Bielle F. Lerond J, et al. Neuropathol Appl Neurobiol. 2023 Oct;49(5):e12937. doi: 10.1111/nan.12937. Neuropathol Appl Neurobiol. 2023. PMID: 37740653
Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.
Gosseaume C, Fournier T, Jéru I, Vignaud ML, Missotte I, Archambeaud F, Debussche X, Droumaguet C, Fève B, Grillot S, Guerci B, Hieronimus S, Horsmans Y, Nobécourt E, Pienkowski C, Poitou C, Thissen JP, Lascols O, Degrelle S, Tsatsaris V, Vigouroux C, Vatier C. Gosseaume C, et al. Eur J Endocrinol. 2023 Mar 2;188(3):lvad023. doi: 10.1093/ejendo/lvad023. Eur J Endocrinol. 2023. PMID: 36806620