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The electrophysiological footprint of CACNA1A disorders.
Indelicato E, Unterberger I, Nachbauer W, Eigentler A, Amprosi M, Zeiner F, Haberlandt E, Kaml M, Gizewski E, Boesch S. Indelicato E, et al. Among authors: nachbauer w. J Neurol. 2021 Jul;268(7):2493-2505. doi: 10.1007/s00415-021-10415-x. Epub 2021 Feb 5. J Neurol. 2021. PMID: 33544220 Free PMC article. Review.
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.
Ehling R, Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Benke T, Kovacs GG, Ströbel T, Niedermüller U, Wagner M, Nachbauer W, Janecke A, Budka H, Boesch S, Kmoch S. Ehling R, et al. Among authors: nachbauer w. J Neurol Sci. 2013 Mar 15;326(1-2):75-82. doi: 10.1016/j.jns.2013.01.017. Epub 2013 Feb 13. J Neurol Sci. 2013. PMID: 23415546
143 results