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Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome-Wide Imputation.
Rothwell S, Amos CI, Miller FW, Rider LG, Lundberg IE, Gregersen PK, Vencovsky J, McHugh N, Limaye V, Selva-O'Callaghan A, Hanna MG, Machado PM, Pachman LM, Reed AM, Molberg Ø, Benveniste O, Mathiesen P, Radstake T, Doria A, De Bleecker JL, De Paepe B, Maurer B, Ollier WE, Padyukov L, O'Hanlon TP, Lee A, Wedderburn LR, Chinoy H, Lamb JA; Myositis Genetics Consortium. Rothwell S, et al. Among authors: de paepe b. Arthritis Rheumatol. 2023 Jun;75(6):1021-1027. doi: 10.1002/art.42434. Epub 2023 Mar 20. Arthritis Rheumatol. 2023. PMID: 36580032 Free PMC article.
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B. Ervilha Pereira P, et al. Among authors: de paepe b. Acta Neuropathol. 2023 Jun;145(6):793-814. doi: 10.1007/s00401-023-02565-1. Epub 2023 Mar 31. Acta Neuropathol. 2023. PMID: 37000196 Free PMC article.
Infantile presentation of the mitochondrial A8344G mutation.
Scalais E, Nuttin C, Seneca S, Smet J, De Paepe B, Martin JJ, Stevens R, Pierart F, Battisti O, Lissens W, De Meirleir L, Van Coster R. Scalais E, et al. Among authors: de meirleir l, de paepe b. Eur J Neurol. 2007 Nov;14(11):e3-5. doi: 10.1111/j.1468-1331.2007.01926.x. Eur J Neurol. 2007. PMID: 17956438 Free article. No abstract available.
121 results