Pongratz D - Search Results

1

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.

Börner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmüller H, Pongratz D, Klopstock T, Melberg A, Holme E, Pääbo S. Börner GV, et al. Among authors: pongratz d. Hum Mol Genet. 2000 Mar 1;9(4):467-75. doi: 10.1093/hmg/9.4.467. Hum Mol Genet. 2000. PMID: 10699170

2

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: pongratz d. 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.

3

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

4

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. Among authors: pongratz de. 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.

5

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. Among authors: pongratz d. Ann Neurol. 1998 Oct;44(4):635-40. doi: 10.1002/ana.410440409. Ann Neurol. 1998. PMID: 9778262

6

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. Among authors: pongratz d. 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.

7

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. Among authors: pongratz d. 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

8

Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical study.

Walter MC, Lochmüller H, Reilich P, Klopstock T, Huber R, Hartard M, Hennig M, Pongratz D, Müller-Felber W. Walter MC, et al. Among authors: pongratz d. Neurology. 2000 May 9;54(9):1848-50. doi: 10.1212/wnl.54.9.1848. Neurology. 2000. PMID: 10802796 Clinical Trial.

9

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. Among authors: pongratz d. J Neurol. 1990 Feb;237(1):5-10. doi: 10.1007/BF00319660. J Neurol. 1990. PMID: 2156958

10

Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry.

Gempel K, Kiechl S, Hofmann S, Lochmüller H, Kiechl-Kohlendorfer U, Willeit J, Sperl W, Rettinger A, Bieger I, Pongratz D, Gerbitz KD, Bauer MF. Gempel K, et al. Among authors: pongratz d. J Inherit Metab Dis. 2002 Feb;25(1):17-27. doi: 10.1023/a:1015109127986. J Inherit Metab Dis. 2002. PMID: 11999976

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