Immunohistological analysis of sarcoid myopathy.

Por Tews, D S, Pongratz, D E
Publicado em 1995

Molecular basis of AMP deaminase deficiency in skeletal muscle.

Por Morisaki, T, Gross, M, Morisaki, H, Pongratz, D, Zöllner, N, Holmes, E W
Publicado em 1992

Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene

Por Horvath, R, Lochmuller, H, Hoeltzenbein, M, Muller-Hocker, J, Schoser, B, Pongratz, D, Jaksch, M
Publicado em 2004

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 subgro...

Por Jaksch, M, Hofmann, S, Kleinle, S, Liechti-Gallati, S, Pongratz, D E, Müller-Höcker, J, Jedele, K B, Meitinger, T, Gerbitz, K D
Publicado em 1998

Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies

Por Jaksch, M., Kleinle, S., Scharfe, C., Klopstock, T., Pongratz, D., Muller-Hocker, J., Gerbitz, K., Liechti-Gallati, S., Lochmuller, H., Horvath, R.
Publicado em 2001

Differential expression of perforin in muscle-infiltrating T cells in polymyositis and dermatomyositis.

Por Goebels, N, Michaelis, D, Engelhardt, M, Huber, S, Bender, A, Pongratz, D, Johnson, M A, Wekerle, H, Tschopp, J, Jenne, D, Hohlfeld, R
Publicado em 1996

A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy

Por Horvath, R, Lochmuller, H, Scharfe, C, Do B, H, Oefner, P, Muller-Hocker, J, Schoser, B, Pongratz, D, Auer, D, Jaksch, M
Publicado em 2003

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

Por Deufel, T., Golla, A., Iles, D., Meindl, A., Meitinger, T., Schindelhauer, D., DeVries, A., Pongratz, D., MacLennan, D. H., Johnson, K. J., Lehmann-Horn, F.
Publicado em 1992

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

Por Kaindl, A, Ruschendorf, F, Krause, S, Goebel, H, Koehler, K, Becker, C, Pongratz, D, Muller-Hocker, J, Nurnberg, P, Stoltenburg-Didin..., G, Lochmuller, H, Huebner, A
Publicado em 2004

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

Por Walter, M, Petersen, J, Stucka, R, Fischer, D, Schroder, R, Vorgerd, M, Schroers, A, Schreiber, H, Hanemann, C, Knirsch, U, Rosenbohm, A, Huebner, A, Barisic, N, Horvath, R, Komoly, S, Reilich, P, Muller-Felber, W, Pongratz, D, Muller, J, Auerswald, E, Lochmuller, H
Publicado em 2004