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. 107 Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients. (11th October 2021) Authors: Ramadža, Danijela Petković; Žigman, Tamara; Grizelj, Ruža; Ninković, Dorotea; Omerza, Lana; Aničić, Mirna Natalija; Ćorić, Marijana; Mayr, Johannes A; Feichtinger, René; Wortmann, Saskia; Prokisch, Holger; Fumić, Ksenija; Vuković, Jurica; 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) ↗
3. 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) ↗
4. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. Issue 11 (17th August 2018) Authors: Milev, Miroslav P; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F E; Al-Deri, Noraldin; Cordelli, Duccio Maria; Haack, Tobias B; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovann... Journal: Journal of medical genetics Issue: Volume 55:Issue 11(2018) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress. Issue 4 (14th March 2023) Authors: El‐Gazzar, Ahmed; Voraberger, Barbara; Rauch, Frank; Mairhofer, Mario; Schmidt, Katy; Guillemyn, Brecht; Mitulović, Goran; Reiterer, Veronika; Haun, Margot; Mayr, Michaela M; Mayr, Johannes A; Kimeswenger, Susanne; Drews, Oliver; Saraff, Vrinda; Shaw, Nick; Fratzl‐Zelman, Nadja; Symoens, Sofie; F... Journal: EMBO molecular medicine Issue: Volume 15:Issue 4(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes. Issue 12 (8th November 2021) Authors: Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E; Meisterknecht, Jana; Aguilar‐Pimentel, Juan Antonio; Amarie, Oana V; Becker, Lore; Breen, Catherine; Calzada‐Wack, Julia; Chhabra, Nirav F; Cho, Yi‐Li; da Silva‐Buttkus, Patricia; Feichtinger, René G; Gampe, Kristine; Garrett, L... Journal: EMBO molecular medicine Issue: Volume 13:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. Issue 4 (18th January 2016) Authors: Koch, Johannes; Feichtinger, René G; Freisinger, Peter; Pies, Mechthild; Schrödl, Falk; Iuso, Arcangela; Sperl, Wolfgang; Mayr, Johannes A; Prokisch, Holger; Haack, Tobias B Journal: Journal of medical genetics Issue: Volume 53:Issue 4(2016) Page Start: 270 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Issue 4 (24th March 2010) Authors: Honzík, Tomáš; Tesařová, Markéta; Mayr, Johannes A; Hansíková, Hana; Ješina, Pavel; Bodamer, Olaf; Koch, Johannes; Magner, Martin; Freisinger, Peter; Huemer, Martina; Kostková, Olga; van Coster, Rudy; Kmoch, Stanislav; Houštêk, Josef; Sperl, Wolfgang; Zeman, Jiří Journal: Archives of disease in childhood Issue: Volume 95:Issue 4(2010) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. Issue 4 (12th April 2012) Authors: Haack, Tobias B; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A; Herberg, Ulrike; Hennermann, Julia B; Klopstock, Thomas; Kuhn, Klaus A; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, ... Journal: Journal of medical genetics Issue: Volume 49:Issue 4(2012) Page Start: 277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. Issue 2 (26th December 2011) Authors: Haack, Tobias B; Madignier, Florence; Herzer, Martina; Lamantea, Eleonora; Danhauser, Katharina; Invernizzi, Federica; Koch, Johannes; Freitag, Martin; Drost, Rene; Hillier, Ingo; Haberberger, Birgit; Mayr, Johannes A; Ahting, Uwe; Tiranti, Valeria; Rötig, Agnes; Iuso, Arcangela; Horvath, Rita; T... Journal: Journal of medical genetics Issue: Volume 49:Issue 2(2012) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗