Müller-Höcker J - Search Results

1

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. 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

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

3

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.

4

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

5

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

6

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

7

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. 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.

8

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.

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

Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.

Horváth R, Scharfe C, Hoeltzenbein M, Do BH, Schröder C, Warzok R, Vogelgesang S, Lochmüller H, Müller-Höcker J, Gerbitz KD, Oefner PJ, Jaksch M. Horváth R, et al. J Med Genet. 2002 Nov;39(11):812-6. doi: 10.1136/jmg.39.11.812. J Med Genet. 2002. PMID: 12414820 Free PMC article. No abstract available.

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