Pongratz D - Search Results

1

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Müller-Höcker J, Pongratz D, Moller LB, Horn N, Jaksch M. Horváth R, et al. Among authors: pongratz d. J Inherit Metab Dis. 2005;28(4):479-92. doi: 10.1007/s10545-005-0479-x. J Inherit Metab Dis. 2005. PMID: 15902551

2

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.

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: 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.

4

Coenzyme Q10 deficiency and isolated myopathy.

Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Plöger H, Müller-Höcker J, Pongratz DE, Naini A, DiMauro S, Lochmüller H. Horvath R, et al. Among authors: pongratz de. Neurology. 2006 Jan 24;66(2):253-5. doi: 10.1212/01.wnl.0000194241.35115.7c. Neurology. 2006. PMID: 16434667

5

Generalized mitochondrial microangiopathy and vascular cytochrome c oxidase deficiency. Occurrence in a case of MELAS syndrome with mitochondrial cardiomyopathy-myopathy and combined complex I/IV deficiency.

Müller-Höcker J, Hübner G, Bise K, Förster C, Hauck S, Paetzke I, Pongratz D, Kadenbach B. Müller-Höcker J, et al. Among authors: pongratz d. Arch Pathol Lab Med. 1993 Feb;117(2):202-10. Arch Pathol Lab Med. 1993. PMID: 8381271

6

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

7

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.

Schoser BG, Müller-Höcker J, Horvath R, Gempel K, Pongratz D, Lochmüller H, Müller-Felber W. Schoser BG, et al. Among authors: pongratz d. Neuropathol Appl Neurobiol. 2007 Oct;33(5):544-59. doi: 10.1111/j.1365-2990.2007.00839.x. Epub 2007 Jun 15. Neuropathol Appl Neurobiol. 2007. PMID: 17573812

8

Mitochondrial angiopathy in a family with MELAS.

Förster C, Hübner G, Müller-Höcker J, Pongratz D, Baierl P, Senger R, Ruitenbeek W. Förster C, et al. Among authors: pongratz d. Neuropediatrics. 1992 Jun;23(3):165-8. doi: 10.1055/s-2008-1071335. Neuropediatrics. 1992. PMID: 1322508

9

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

10

Focal deficiency of cytochrome c oxidase and of mitochondrial ATPase with histochemical evidence of loosely coupled oxidative phosphorylation in a mitochondrial myopathy of a patient with bilateral ptosis. An enzyme histochemical, immunocytochemical and fine structural study.

Müller-Höcker J, Stünkel S, Pongratz D, Hübner G. Müller-Höcker J, et al. Among authors: pongratz d. J Neurol Sci. 1985 May-Jun;69(1-2):27-36. doi: 10.1016/0022-510x(85)90004-8. J Neurol Sci. 1985. PMID: 2989441

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