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Neuropathological spectrum of anti-IgLON5 disease and stages of brainstem tau pathology: updated neuropathological research criteria of the disease-related tauopathy.
Gelpi E, Reinecke R, Gaig C, Iranzo A, Sabater L, Molina-Porcel L, Aldecoa I, Endmayr V, Högl B, Schmutzhard E, Poewe W, Pfausler B, Popovic M, Pretnar-Oblak J, Leypoldt F, Matschke J, Glatzel M, Erro EM, Jerico I, Caballero MC, Zelaya MV, Mariotto S, Heidbreder A, Kalev O, Weis S, Macher S, Berger-Sieczkowski E, Ferrari J, Reisinger C, Klupp N, Tienari P, Rautila O, Niemelä M, Yilmazer-Hanke D, Guasp M, Bloem B, Van Gaalen J, Kusters B, Titulaer M, Fransen NL, Santamaria J, Dawson T, Holton JL, Ling H, Revesz T, Myllykangas L, Budka H, Kovacs GG, Lewerenz J, Dalmau J, Graus F, Koneczny I, Höftberger R. Gelpi E, et al. Acta Neuropathol. 2024 Oct 14;148(1):53. doi: 10.1007/s00401-024-02805-y. Acta Neuropathol. 2024. PMID: 39400557 Free PMC article.
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
van Karnebeek CDM, O'Donnell-Luria A, Baynam G, Baudot A, Groza T, Jans JJM, Lassmann T, Letinturier MCV, Montgomery SB, Robinson PN, Sansen S, Mehrian-Shai R, Steward C, Kosaki K, Durao P, Sadikovic B. van Karnebeek CDM, et al. Orphanet J Rare Dis. 2024 Sep 27;19(1):357. doi: 10.1186/s13023-024-03361-0. Orphanet J Rare Dis. 2024. PMID: 39334316 Free PMC article. Review.
FAIR Data Cube, a FAIR data infrastructure for integrated multi-omics data analysis.
Liao X, Ederveen THA, Niehues A, de Visser C, Huang J, Badmus F, Doornbos C, Orlova Y, Kulkarni P, van der Velde KJ, Swertz MA, Brandt M, van Gool AJ, 't Hoen PAC. Liao X, et al. J Biomed Semantics. 2024 Dec 28;15(1):20. doi: 10.1186/s13326-024-00321-2. J Biomed Semantics. 2024. PMID: 39732721 Free PMC article.