Zierz S - Search Results

1

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.

Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M. Lehmann D, et al. Among authors: zierz s. Neuromuscul Disord. 2015 Jan;25(1):81-4. doi: 10.1016/j.nmd.2014.09.008. Epub 2014 Sep 28. Neuromuscul Disord. 2015. PMID: 25447692 Free PMC article.

2

A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.

Deschauer M, Wieser T, Schröder R, Zierz S. Deschauer M, et al. Among authors: zierz s. Mol Genet Metab. 2002 Feb;75(2):181-5. doi: 10.1006/mgme.2001.3281. Mol Genet Metab. 2002. PMID: 11855939

3

Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size.

Gellerich FN, Deschauer M, Chen Y, Müller T, Neudecker S, Zierz S. Gellerich FN, et al. Among authors: zierz s. Biochim Biophys Acta. 2002 Oct 3;1556(1):41-52. doi: 10.1016/s0005-2728(02)00305-5. Biochim Biophys Acta. 2002. PMID: 12351217 Free article.

4

Two novel mutations in the myophosphorylase gene in a patient with McArdle disease.

Deschauer M, Hertel K, Zierz S. Deschauer M, et al. Among authors: zierz s. Muscle Nerve. 2003 Jan;27(1):105-7. doi: 10.1002/mus.10261. Muscle Nerve. 2003. PMID: 12508303

5

Energetic depression caused by mitochondrial dysfunction.

Gellerich FN, Trumbeckaite S, Chen Y, Deschauer M, M ller T, Zierz S. Gellerich FN, et al. Among authors: zierz s. Eur Cytokine Netw. 2002 Oct-Dec;13(4):395-7. Eur Cytokine Netw. 2002. PMID: 12517722 Free article. Review.

6

Increased metabolic muscle fatigue is caused by some but not all mitochondrial mutations.

Schulte-Mattler WJ, Müller T, Deschauer M, Gellerich FN, Iaizzo PA, Zierz S. Schulte-Mattler WJ, et al. Among authors: zierz s. Arch Neurol. 2003 Jan;60(1):50-8. doi: 10.1001/archneur.60.1.50. Arch Neurol. 2003. PMID: 12533088

7

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.

Deschauer M, Chrzanowska-Lightowlers ZM, Biekmann E, Pourfarzam M, Taylor RW, Turnbull DM, Zierz S. Deschauer M, et al. Among authors: zierz s. Mol Genet Metab. 2003 Jun;79(2):124-8. doi: 10.1016/s1096-7192(03)00067-2. Mol Genet Metab. 2003. PMID: 12809643

8

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.

Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW. Deschauer M, et al. Among authors: zierz s. Neuromuscul Disord. 2003 Sep;13(7-8):568-72. doi: 10.1016/s0960-8966(03)00071-3. Neuromuscul Disord. 2003. PMID: 12921794

9

Energetic depression caused by mitochondrial dysfunction.

Gellerich FN, Trumbeckaite S, Müller T, Deschauer M, Chen Y, Gizatullina Z, Zierz S. Gellerich FN, et al. Among authors: zierz s. Mol Cell Biochem. 2004 Jan-Feb;256-257(1-2):391-405. doi: 10.1023/b:mcbi.0000009885.34498.e6. Mol Cell Biochem. 2004. PMID: 14977198 Review.

10

Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.

Deschauer M, Wieser T, Zierz S. Deschauer M, et al. Among authors: zierz s. Arch Neurol. 2005 Jan;62(1):37-41. doi: 10.1001/archneur.62.1.37. Arch Neurol. 2005. PMID: 15642848

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