1. A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. Issue 11 (November 1998) Authors: Jaksch, M; Hofmann, S; Kleinle, S; Liechti-Gallati, S; Pongratz, D E; Müller-Höcker, J; Jedele, K B; Meitinger, T; Gerbitz, K D Journal: Journal of medical genetics Issue: Volume 35:Issue 11(1998) Page Start: 895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. Issue 10 (20th October 2003) Authors: Horváth, R; Lochmüller, H; Scharfe, C; Do, B H; Oefner, P J; Müller-Höcker, J; Schoser, B G; Pongratz, D; Auer, D P; Jaksch, M Journal: Journal of medical genetics Issue: Volume 40:Issue 10(2003) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. Issue 11 (1st November 2002) Authors: Horváth, R; Scharfe, C; Hoeltzenbein, M; Do, B H; Schröder, C; Warzok, R; Vogelgesang, S; Lochmüller, H; Müller-Höcker, J; Gerbitz, K D; Oefner, P J; Jaksch, M Journal: Journal of medical genetics Issue: Volume 39:Issue 11(2002) Page Start: 812 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Identification of expandable human hepatic progenitors which differentiate into mature hepatic cells in vivo. Issue 7 (10th June 2005) Authors: Nowak, G; Ericzon, B-G; Nava, S; Jaksch, M; Westgren, M; Sumitran-Holgersson, S Journal: Gut Issue: Volume 54:Issue 7(2005) Page Start: 972 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). Issue 1 (16th December 2005) Authors: Horváth, R; Abicht, A; Holinski-Feder, E; Laner, A; Gempel, K; Prokisch, H; Lochmüller, H; Klopstock, T; Jaksch, M Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 77:Issue 1(2006) Page Start: 74 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. Issue 6 (1st June 2004) Authors: Horváth, R; Lochmüller, H; Hoeltzenbein, M; Müller-Höcker, J; Schoser, B G; Pongratz, D; Jaksch, M Journal: Journal of medical genetics Issue: Volume 41:Issue 6(2004) Page Start: e75 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Two families with autosomal dominant progressive external ophthalmoplegia. Issue 8 (16th July 2004) Authors: Kiechl, S; Horváth, R; Luoma, P; Kiechl-Kohlendorfer, U; Wallacher-Scholz, B; Stucka, R; Thaler, C; Wanschitz, J; Suomalainen, A; Jaksch, M; Willeit, J Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 75:Issue 8(2004) Page Start: 1125 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗