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Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Kušíková K, Feichtinger RG, Csillag B, Kalev OK, Weis S, Duba HC, Mayr JA, Weis D. Kušíková K, et al. Among authors: kalev ok. Front Pediatr. 2021 Apr 16;9:660076. doi: 10.3389/fped.2021.660076. eCollection 2021. Front Pediatr. 2021. PMID: 33937156 Free PMC article.
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
Kušíková K, Šoltýsová A, Ficek A, Feichtinger RG, Mayr JA, Škopková M, Gašperíková D, Kolníková M, Ornig K, Kalev O, Weis S, Weis D. Kušíková K, et al. Among authors: kalev o. Genes (Basel). 2023 Dec 3;14(12):2174. doi: 10.3390/genes14122174. Genes (Basel). 2023. PMID: 38136996 Free PMC article.
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.
Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Ströbel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Génin E, Guyant-Maréchal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A. Le Guennec K, et al. Among authors: kalev o. Mol Psychiatry. 2017 Aug;22(8):1119-1125. doi: 10.1038/mp.2016.226. Epub 2016 Dec 13. Mol Psychiatry. 2017. PMID: 27956742
Enhanced expression of autophagy-related p62 without increased deposits of neurodegeneration-associated proteins in glioblastoma and surrounding tissue - An autopsy-based study.
Klotz S, Ricken G, Preusser M, Dieckmann K, Widhalm G, Rössler K, Fischer P, Kalev O, Wöhrer A, Kovacs GG, Gelpi E. Klotz S, et al. Among authors: kalev o. Brain Pathol. 2022 Sep;32(5):e13058. doi: 10.1111/bpa.13058. Epub 2022 Mar 1. Brain Pathol. 2022. PMID: 35229396 Free PMC article.
32 results