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Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich's ataxia.
Indelicato E, Kirchmair A, Amprosi M, Steixner S, Nachbauer W, Eigentler A, Wahl N, Apostolova G, Krogsdam A, Schneider R, Wanschitz J, Trajanoski Z, Boesch S. Indelicato E, et al. Among authors: boesch s. Hum Mol Genet. 2023 Jun 19;32(13):2241-2250. doi: 10.1093/hmg/ddad051. Hum Mol Genet. 2023. PMID: 37027192 Free PMC article.
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: boesch s. 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
Erythropoietin in Friedreich ataxia.
Mariotti C, Nachbauer W, Panzeri M, Poewe W, Taroni F, Boesch S. Mariotti C, et al. Among authors: boesch s. J Neurochem. 2013 Aug;126 Suppl 1:80-7. doi: 10.1111/jnc.12301. J Neurochem. 2013. PMID: 23859343 Free article. Review.
206 results