Jaksch M - Search Results

1

Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis.

Jaksch M, Gerbitz KD, Kilger C. Jaksch M, et al. Clin Biochem. 1995 Oct;28(5):503-9. doi: 10.1016/0009-9120(95)00035-8. Clin Biochem. 1995. PMID: 8582049

2

Mitochondrial diabetes mellitus: a review.

Gerbitz KD, van den Ouweland JM, Maassen JA, Jaksch M. Gerbitz KD, et al. Among authors: jaksch m. Biochim Biophys Acta. 1995 May 24;1271(1):253-60. doi: 10.1016/0925-4439(95)00036-4. Biochim Biophys Acta. 1995. PMID: 7599217 Free article. Review.

3

Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome.

Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B, Gerbitz KD. Hofmann S, et al. Among authors: jaksch m. Mol Cell Biochem. 1997 Sep;174(1-2):209-13. Mol Cell Biochem. 1997. PMID: 9309689

4

Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene.

Gerbitz KD, Paprotta A, Jaksch M, Zierz S, Drechsel J. Gerbitz KD, et al. Among authors: jaksch m. FEBS Lett. 1993 Apr 26;321(2-3):194-6. doi: 10.1016/0014-5793(93)80106-5. FEBS Lett. 1993. PMID: 8477849 Free article.

5

Mitochondrial DNA, aging and sudden infant death syndrome.

Gerbitz KD, Jaksch M. Gerbitz KD, et al. Among authors: jaksch m. Eur J Clin Chem Clin Biochem. 1994 Jun;32(6):487-8. Eur J Clin Chem Clin Biochem. 1994. PMID: 7918849 No abstract available.

6

A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.

Jaksch M, Hofmann S, Kaufhold P, Obermaier-Kusser B, Zierz S, Gerbitz KD. Jaksch M, et al. Hum Mutat. 1996;7(4):358-60. doi: 10.1002/(SICI)1098-1004(1996)7:4<358::AID-HUMU11>3.0.CO;2-1. Hum Mutat. 1996. PMID: 8723687 No abstract available.

7

Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.

Hofmann S, Bezold R, Jaksch M, Obermaier-Kusser B, Mertens S, Kaufhold P, Rabl W, Hecker W, Gerbitz KD. Hofmann S, et al. Among authors: jaksch m. Genomics. 1997 Jan 1;39(1):8-18. doi: 10.1006/geno.1996.4474. Genomics. 1997. PMID: 9027481

8

Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease.

Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, Gerbitz KD. Hofmann S, et al. Among authors: jaksch m. Hum Mol Genet. 1997 Oct;6(11):1835-46. doi: 10.1093/hmg/6.11.1835. Hum Mol Genet. 1997. PMID: 9302261

9

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

Jaksch M, Klopstock T, Kurlemann G, Dörner M, Hofmann S, Kleinle S, Hegemann S, Weissert M, Müller-Höcker J, Pongratz D, Gerbitz KD. Jaksch M, et al. Ann Neurol. 1998 Oct;44(4):635-40. doi: 10.1002/ana.410440409. Ann Neurol. 1998. PMID: 9778262

10

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.

Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Müller-Höcker J, Jedele KB, Meitinger T, Gerbitz KD. Jaksch M, et al. J Med Genet. 1998 Nov;35(11):895-900. doi: 10.1136/jmg.35.11.895. J Med Genet. 1998. PMID: 9832034 Free PMC article.

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