Horváth R - Search Results

1

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.

2

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.

Horvath R, Lochmüller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M. Horvath R, et al. Biochem Biophys Res Commun. 2000 Sep 24;276(2):530-3. doi: 10.1006/bbrc.2000.3495. Biochem Biophys Res Commun. 2000. PMID: 11027508

3

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: horvath r. 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.

4

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P. Jaksch M, et al. Among authors: horvath r. Neurology. 2001 Oct 23;57(8):1440-6. doi: 10.1212/wnl.57.8.1440. Neurology. 2001. PMID: 11673586

5

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: horvath r. Neurology. 2001 Nov 27;57(10):1930-1. doi: 10.1212/wnl.57.10.1930. Neurology. 2001. PMID: 11723298 No abstract available.

6

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.

Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H. Jaksch M, et al. Among authors: horvath r. Hum Mol Genet. 2001 Dec 15;10(26):3025-35. doi: 10.1093/hmg/10.26.3025. Hum Mol Genet. 2001. PMID: 11751685

7

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA. Antonicka H, et al. Among authors: horvath r. Hum Mol Genet. 2003 Oct 15;12(20):2693-702. doi: 10.1093/hmg/ddg284. Epub 2003 Aug 19. Hum Mol Genet. 2003. PMID: 12928484

8

A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy.

Horváth R, Lochmüller H, Scharfe C, Do BH, Oefner PJ, Müller-Höcker J, Schoser BG, Pongratz D, Auer DP, Jaksch M. Horváth R, et al. J Med Genet. 2003 Oct;40(10):752-7. doi: 10.1136/jmg.40.10.752. J Med Genet. 2003. PMID: 14569122 Free PMC article. No abstract available.

9

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?

Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M. Freisinger P, et al. Among authors: horvath r. J Inherit Metab Dis. 2004;27(1):67-79. doi: 10.1023/B:BOLI.0000016614.47380.2f. J Inherit Metab Dis. 2004. PMID: 14970747

10

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.

Walter MC, Petersen JA, Stucka R, Fischer D, Schröder R, Vorgerd M, Schroers A, Schreiber H, Hanemann CO, Knirsch U, Rosenbohm A, Huebner A, Barisic N, Horvath R, Komoly S, Reilich P, Müller-Felber W, Pongratz D, Müller JS, Auerswald EA, Lochmüller H. Walter MC, et al. Among authors: horvath r. J Med Genet. 2004 Apr;41(4):e50. doi: 10.1136/jmg.2003.013953. J Med Genet. 2004. PMID: 15060126 Free PMC article. No abstract available.

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