1. 106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations. (11th October 2021) Authors: Šikić, Katarina; Ramadža, Danijela Petković; Žigman, Tamara; Barišić, Nina; Lehman, Ivan; Mayr, Johannes A; Prokisch, Holger; Wortmann, Saskia B; Sperl, Wolfgang; Mesarić, Nikola; Rahelić, Valentina; Fumić, Ksenija; Ozretić, David; Tomasović, Maja; Barić, Ivo Journal: Archives of disease in childhood Issue: Volume 106(2021)Supplement 2 Page Start: A45 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder. Issue 9 (1st September 2021) Authors: Feichtinger, René G; Hüllen, Andreas; Koller, Andreas; Kotzot, Dieter; Grote, Valerian; Rapp, Erdmann; Hofbauer, Peter; Brugger, Karin; Thiel, Christian; Mayr, Johannes A; Wortmann, Saskia B Journal: EMBO molecular medicine Issue: Volume 13:Issue 9(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Monogenic variants in dystonia: an exome-wide sequencing study. Issue 11 (November 2020) Authors: Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková,... Journal: Lancet neurology Issue: Volume 19:Issue 11(2020) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. Issue 1 (15th September 2017) Authors: Roeben, Benjamin; Schüle, Rebecca; Ruf, Susanne; Bender, Benjamin; Alhaddad, Bader; Benkert, Tanja; Meitinger, Thomas; Reich, Selina; Böhringer, Judith; Langhans, Claus-Dieter; Vaz, Frédéric M; Wortmann, Saskia B; Marquardt, Thorsten; Haack, Tobias B; Krägeloh-Mann, Ingeborg; Schöls, Ludger; Syno... Journal: Journal of medical genetics Issue: Volume 55:Issue 1(2018) Page Start: 39 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗