Marcus Deschauer
Klinik und Poliklinik für Neurologie
Martin-Luther Universität Halle-Wittenberg
Ernst-Grube-Str. 40
06097 Halle/Saale
Germany
Name/email consistency: high
- Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. Deschauer, M., Morgenroth, A., Joshi, P.R., Gläser, D., Chinnery, P.F., Aasly, J., Schreiber, H., Knape, M., Zierz, S., Vorgerd, M. J. Neurol. (2007)
- Molecular and biochemical investigations in fumarase deficiency. Deschauer, M., Gizatullina, Z., Schulze, A., Pritsch, M., Knöppel, C., Knape, M., Zierz, S., Gellerich, F.N. Mol. Genet. Metab. (2006)
- Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Deschauer, M., Wieser, T., Zierz, S. Arch. Neurol. (2005)
- A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. Deschauer, M., Hudson, G., Müller, T., Taylor, R.W., Chinnery, P.F., Zierz, S. Neuromuscul. Disord. (2005)
- False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by Southern blot analysis: the role of neutral polymorphisms. Deschauer, M., Krasnianski, A., Zierz, S., Taylor, R.W. Genet. Test. (2004)
- Two novel mutations in the myophosphorylase gene in a patient with McArdle disease. Deschauer, M., Hertel, K., Zierz, S. Muscle. Nerve (2003)
- A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency. Deschauer, M., Chrzanowska-Lightowlers, Z.M., Biekmann, E., Pourfarzam, M., Taylor, R.W., Turnbull, D.M., Zierz, S. Mol. Genet. Metab. (2003)
- A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. Deschauer, M., Wieser, T., Schröder, R., Zierz, S. Mol. Genet. Metab. (2002)
- Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. Deschauer, M., Müller, T., Wieser, T., Schulte-Mattler, W., Kornhuber, M., Zierz, S. Arch. Neurol. (2001)
