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A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R. Issler N, et al. Among authors: meindl k. J Am Soc Nephrol. 2022 Apr;33(4):732-745. doi: 10.1681/ASN.2021101312. Epub 2022 Feb 11. J Am Soc Nephrol. 2022. PMID: 35149593 Free PMC article.
Induced neural progenitor cells and iPS-neurons from major depressive disorder patients show altered bioenergetics and electrophysiological properties.
Triebelhorn J, Cardon I, Kuffner K, Bader S, Jahner T, Meindl K, Rothhammer-Hampl T, Riemenschneider MJ, Drexler K, Berneburg M, Nothdurfter C, Manook A, Brochhausen C, Baghai TC, Hilbert S, Rupprecht R, Milenkovic VM, Wetzel CH. Triebelhorn J, et al. Among authors: meindl k. Mol Psychiatry. 2022 Jun 22. doi: 10.1038/s41380-022-01660-1. Online ahead of print. Mol Psychiatry. 2022. PMID: 35732695