Gerbitz KD - Search Results

1

Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))].

Obermaier-Kusser B, Paetzke-Brunner I, Enter C, Müller-Höcker J, Zierz S, Ruitenbeek W, Gerbitz KD. Obermaier-Kusser B, et al. Among authors: gerbitz kd. FEBS Lett. 1991 Jul 29;286(1-2):67-70. doi: 10.1016/0014-5793(91)80942-v. FEBS Lett. 1991. PMID: 1713858 Free article.

2

A specific point mutation in the mitochondrial genome of Caucasians with MELAS.

Enter C, Müller-Höcker J, Zierz S, Kurlemann G, Pongratz D, Förster C, Obermaier-Kusser B, Gerbitz KD. Enter C, et al. Among authors: gerbitz kd. Hum Genet. 1991 Dec;88(2):233-6. doi: 10.1007/BF00206080. Hum Genet. 1991. PMID: 1684568

3

Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies.

Gerbitz KD, Obermaier-Kusser B, Lestienne P, Zierz S, Müller-Höcker J, Pongratz D, Paetzke-Brunner I, Deufel T. Gerbitz KD, et al. J Clin Chem Clin Biochem. 1990 Apr;28(4):241-50. doi: 10.1515/cclm.1990.28.4.241. J Clin Chem Clin Biochem. 1990. PMID: 2162908

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. 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

No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA point mutations associated with LHON.

Gerbitz KD, Paprotta A, Obermaier-Kusser B, Rietschel M, Zerres K. Gerbitz KD, et al. FEBS Lett. 1992 Dec 21;314(3):251-5. doi: 10.1016/0014-5793(92)81482-2. FEBS Lett. 1992. PMID: 1361456 Free article.

6

Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR.

Obermaier-Kusser B, Müller-Höcker J, Nelson I, Lestienne P, Enter C, Riedele T, Gerbitz KD. Obermaier-Kusser B, et al. Among authors: gerbitz kd. Biochem Biophys Res Commun. 1990 Jun 29;169(3):1007-15. doi: 10.1016/0006-291x(90)91994-4. Biochem Biophys Res Commun. 1990. PMID: 1973036

7

Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes.

Gerbitz KD, Obermaier-Kusser B, Zierz S, Pongratz D, Müller-Höcker J, Lestienne P. Gerbitz KD, et al. J Neurol. 1990 Feb;237(1):5-10. doi: 10.1007/BF00319660. J Neurol. 1990. PMID: 2156958

8

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. Among authors: gerbitz kd. 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.

9

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

Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R. Jaksch M, et al. Among authors: gerbitz kd. J Med Genet. 2001 Oct;38(10):665-73. doi: 10.1136/jmg.38.10.665. J Med Genet. 2001. PMID: 11584044 Free PMC article.

10

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: gerbitz kd. Genomics. 1997 Jan 1;39(1):8-18. doi: 10.1006/geno.1996.4474. Genomics. 1997. PMID: 9027481

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