Growth arrest specific protein (GAS) 6: a role in the regulation of proliferation and functional capacity of the perinatal rat beta cell von Haase, T. N., Rasmussen, M., Jaksch, C. A. M., Gaarn, L. W., Petersen, C. K., Billestrup, N., Nielsen, J. H.

Volltext

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA) von Horváth, R, Abicht, A, Holinski-Feder, E, Laner, A, Gempel, K, Prokisch, H, Lochmüller, H, Klopstock, T, Jaksch, M

Volltext

Identification of expandable human hepatic progenitors which differentiate into mature hepatic cells in vivo von Nowak, G, Ericzon, B-G, Nava, S, Jaksch, M, Westgren, M, Sumitran-Holgersson, S

Volltext

The Pathophysiology of Acute Graft‐Versus‐Host Disease von Jaksch, M., Mattsson, J.

Volltext

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency von JAKSCH, M, OGILVIE, I, JIANBO YAO, KORTENHAUS, G, BRESSER, H.-G, GERBITZ, K.-D, SHOUBRIDGE, E. A

Volltext

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy von Horváth, R., Schoser, B.G.H., Müller-Höcker, J., Völpel, M., Jaksch, M., Lochmüller, H.

Volltext

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper? von Freisinger, P., Horvath, R., Macmillan, C., Peters, J., Jaksch, M.

Volltext

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts von Jaksch, M, Paret, C, Stucka, R, Horn, N, Müller-Höcker, J, Horvath, R, Trepesch, N, Stecker, G, Freisinger, P, Thirion, C, Müller, J, Lunkwitz, R, Rödel, G, Shoubridge, E A, Lochmüller, H

Volltext

Population Genetics and Disease Susceptibility: Characterization of Central European Haplogroups By mtDNA Gene Mutations, Correlation with D Loop Variants and Association With Dise... von Hofmann, Sabine, Jaksch, Michaela, Bezold, Reimar, Mertens, Sabine, Aholt, Simone, Paprotta, Armin, Gerbitz, Klaus-Dieter

Volltext

Phenotype variability in 130 adult patients with respiratory chain disorders von Finsterer, J., Jarius, C., Eichberger, H., Jaksch, M.

Volltext

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I von Scharfe, Curt, Hauschild, Michael, Klopstock, Thomas, Janssen, Antoon J M, Heidemann, Peter H, Meitinger, Thomas, Jaksch, Michaela

Volltext

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency von Tiranti, V., Jaksch, M., Hofmann, S., Galimberti, C., Hoertnagel, K., Lulli, L., Freisinger, P., Bindoff, L., Gerbitz, K. D., Comi, G.-P., Uziel, G., Zeviani, M., Meitinger, T.

Volltext

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy von Jaksch, M, Horvath, R, Horn, N, Auer, D P, Macmillan, C, Peters, J, Gerbitz, K D, Kraegeloh-Mann, I, Muntau, A, Karcagi, V, Kalmanchey, R, Lochmuller, H, Shoubridge, E A, Freisinger, P

Volltext

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I von Scharfe, C, Hauschild, M, Klopstock, T, Janssen, A J, Heidemann, P H, Meitinger, T, Jaksch, M

Volltext

MITOP, the mitochondrial proteome database: 2000 update von Scharfe, C, Zaccaria, P, Hoertnagel, K, Jaksch, M, Klopstock, T, Dembowski, M, Lill, R, Prokisch, H, Gerbitz, K D, Neupert, W, Mewes, H W, Meitinger, T

Volltext

Two families with autosomal dominant progressive external ophthalmoplegia von Kiechl, S, Horváth, R, Luoma, P, Kiechl-Kohlendorfer, U, Wallacher-Scholz, B, Stucka, R, Thaler, C, Wanschitz, J, Suomalainen, A, Jaksch, M, Willeit, J

Volltext

Biliary Epithelial Cell Antibodies Link Adaptive and Innate Immune Responses in Primary Sclerosing Cholangitis von Karrar, Azza, Broomé, Ulrika, Södergren, Towe, Jaksch, Marie, Bergquist, Annika, Björnstedt, Mikael, Sumitran–Holgersson, Suchitra

Volltext

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism von Horváth, R., Freisinger, P., Rubio, R., Merl, T., Bax, R., Mayr, J. A., Shawan, Müller‐Höcker, J., Pongratz, D., Moller, L. B., Horn, N., Jaksch, M.

Volltext

A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract von JAKSCH, M, LOCHMULLER, H, SCHMITT, F, VOLPEL, B, OBERMAIER-KUSSER, B, HORVATH, R

Volltext

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase von Leary, Scot C., Kaufman, Brett A., Pellecchia, Giovanna, Guercin, Guy-Hellen, Mattman, Andre, Jaksch, Michaela, Shoubridge, Eric A.

Volltext