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Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
Baide-Mairena H, Coget A, Leboucq N, Procaccio V, Blanluet M, Meyer P, Malinge MC, François-Heude MC, Moreno M, Geneviève D, Marelli C, Roubertie A. Baide-Mairena H, et al. Among authors: malinge mc. Ann Clin Transl Neurol. 2023 Oct;10(10):1937-1943. doi: 10.1002/acn3.51858. Epub 2023 Jul 25. Ann Clin Transl Neurol. 2023. PMID: 37491839 Free PMC article.
French recommendations for the diagnosis and management of lymphangioleiomyomatosis.
Cottin V, Blanchard E, Kerjouan M, Lazor R, Reynaud-Gaubert M, Taille C, Uzunhan Y, Wemeau L, Andrejak C, Baud D, Bonniaud P, Brillet PY, Calender A, Chalabreysse L, Court-Fortune I, Desbaillets NP, Ferretti G, Guillemot A, Hardelin L, Kambouchner M, Leclerc V, Lederlin M, Malinge MC, Mancel A, Marchand-Adam S, Maury JM, Naccache JM, Nasser M, Nunes H, Pagnoux G, Prévot G, Rousset-Jablonski C, Rouviere O, Si-Mohamed S, Touraine R, Traclet J, Turquier S, Vagnarelli S, Ahmad K; OrphaLung network. Cottin V, et al. Among authors: malinge mc. Respir Med Res. 2023 Jun;83:101010. doi: 10.1016/j.resmer.2023.101010. Epub 2023 Mar 24. Respir Med Res. 2023. PMID: 37087906
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Bergougnoux A, Billet A, Ka C, Heller M, Degrugillier F, Vuillaume ML, Thoreau V, Sasorith S, Bareil C, Thèze C, Ferec C, Gac GL, Bienvenu T, Bieth E, Gaston V, Lalau G, Pagin A, Malinge MC, Dufernez F, Lemonnier L, Koenig M, Fergelot P, Claustres M, Taulan-Cadars M, Kitzis A, Reboul MP, Becq F, Fanen P, Mekki C, Audrezet MP, Girodon E, Raynal C. Bergougnoux A, et al. Among authors: malinge mc. J Cyst Fibros. 2023 May;22(3):515-524. doi: 10.1016/j.jcf.2022.12.003. Epub 2022 Dec 23. J Cyst Fibros. 2023. PMID: 36567205
37 results