Müller-Höcker J - 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. 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. 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. 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

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. Hum Mol Genet. 2001 Dec 15;10(26):3025-35. doi: 10.1093/hmg/10.26.3025. Hum Mol Genet. 2001. PMID: 11751685

5

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.

Horváth R, Schoser BG, Müller-Höcker J, Völpel M, Jaksch M, Lochmüller H. Horváth R, et al. Neuromuscul Disord. 2005 Dec;15(12):851-7. doi: 10.1016/j.nmd.2005.09.005. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288875

6

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. Neurology. 2006 Jan 24;66(2):253-5. doi: 10.1212/01.wnl.0000194241.35115.7c. Neurology. 2006. PMID: 16434667

7

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

8

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. 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

9

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. Neuropediatrics. 1992 Jun;23(3):165-8. doi: 10.1055/s-2008-1071335. Neuropediatrics. 1992. PMID: 1322508

10

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

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