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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium; Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D. Cossins J, et al. Among authors: zoltowska k. Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11. Brain. 2013. PMID: 23404334 Free PMC article.
The search for new antigenic targets in myasthenia gravis.
Cossins J, Belaya K, Zoltowska K, Koneczny I, Maxwell S, Jacobson L, Leite MI, Waters P, Vincent A, Beeson D. Cossins J, et al. Among authors: zoltowska k. Ann N Y Acad Sci. 2012 Dec;1275:123-8. doi: 10.1111/j.1749-6632.2012.06833.x. Ann N Y Acad Sci. 2012. PMID: 23278587 Review.
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D, Fernández SG, Zoltowska KM, Enzlein T, Ryan NS, O'Connor A, Szaruga M, Hill E, Vandenberghe R, Fox NC, Chávez-Gutiérrez L. Petit D, et al. Among authors: zoltowska km. Mol Psychiatry. 2022 Jun;27(6):2821-2832. doi: 10.1038/s41380-022-01518-6. Epub 2022 Apr 1. Mol Psychiatry. 2022. PMID: 35365805 Free PMC article.
Exploring the origins of nucleation.
Zoltowska KM, Chávez-Gutiérrez L. Zoltowska KM, et al. Elife. 2021 Mar 10;10:e67269. doi: 10.7554/eLife.67269. Elife. 2021. PMID: 33688830 Free PMC article.
73 results