Obermaier-Kusser B - Search Results

1

A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract.

Jaksch M, Lochmuller H, Schmitt F, Volpel B, Obermaier-Kusser B, Horvath R. Jaksch M, et al. Among authors: obermaier kusser b. Neurology. 2001 Nov 27;57(10):1930-1. doi: 10.1212/wnl.57.10.1930. Neurology. 2001. PMID: 11723298 No abstract available.

2

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: obermaier kusser b. Mol Cell Biochem. 1997 Sep;174(1-2):209-13. Mol Cell Biochem. 1997. PMID: 9309689

3

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

4

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: obermaier kusser b. 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.

5

Different clinical aspects of debrancher deficiency myopathy.

Kiechl S, Kohlendorfer U, Thaler C, Skladal D, Jaksch M, Obermaier-Kusser B, Willeit J. Kiechl S, et al. Among authors: obermaier kusser b. J Neurol Neurosurg Psychiatry. 1999 Sep;67(3):364-8. doi: 10.1136/jnnp.67.3.364. J Neurol Neurosurg Psychiatry. 1999. PMID: 10449560 Free PMC article.

6

Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations.

Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B, Gerbitz KD. Hofmann S, et al. Among authors: obermaier kusser b. Am J Hum Genet. 1997 Jun;60(6):1539-42. doi: 10.1016/S0002-9297(07)64248-7. Am J Hum Genet. 1997. PMID: 9199577 Free PMC article. No abstract available.

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

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. 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.

9

In situ hybridization of mitochondrial DNA in the heart of a patient with Kearns-Sayre syndrome and dilatative cardiomyopathy.

Müller-Höcker J, Seibel P, Schneiderbanger K, Zietz C, Obermaier-Kusser B, Gerbitz KD, Kadenbach B. Müller-Höcker J, et al. Hum Pathol. 1992 Dec;23(12):1431-7. doi: 10.1016/0046-8177(92)90065-b. Hum Pathol. 1992. PMID: 1334946

10

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. Hum Genet. 1991 Dec;88(2):233-6. doi: 10.1007/BF00206080. Hum Genet. 1991. PMID: 1684568

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