Author/Creator: Jaksch, M - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Jaksch, M

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) ↗