Gerbitz KD - Search Results

1

MITOP: database for mitochondria-related proteins, genes and diseases.

Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Lill R, Prokisch H, Gerbitz KD, Mewes HW, Meitinger T. Scharfe C, et al. Among authors: gerbitz kd. Nucleic Acids Res. 1999 Jan 1;27(1):153-5. doi: 10.1093/nar/27.1.153. Nucleic Acids Res. 1999. PMID: 9847163 Free PMC article.

2

MITOP, the mitochondrial proteome database: 2000 update.

Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Dembowski M, Lill R, Prokisch H, Gerbitz KD, Neupert W, Mewes HW, Meitinger T. Scharfe C, et al. Among authors: gerbitz kd. Nucleic Acids Res. 2000 Jan 1;28(1):155-8. doi: 10.1093/nar/28.1.155. Nucleic Acids Res. 2000. PMID: 10592209 Free PMC article.

3

Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis.

Jaksch M, Gerbitz KD, Kilger C. Jaksch M, et al. Among authors: gerbitz kd. Clin Biochem. 1995 Oct;28(5):503-9. doi: 10.1016/0009-9120(95)00035-8. Clin Biochem. 1995. PMID: 8582049

4

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

Strom TM, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T. Strom TM, et al. Among authors: gerbitz kd. Hum Mol Genet. 1998 Dec;7(13):2021-8. doi: 10.1093/hmg/7.13.2021. Hum Mol Genet. 1998. PMID: 9817917

5

Mitochondrial DNA, aging and sudden infant death syndrome.

Gerbitz KD, Jaksch M. Gerbitz KD, et al. Eur J Clin Chem Clin Biochem. 1994 Jun;32(6):487-8. Eur J Clin Chem Clin Biochem. 1994. PMID: 7918849 No abstract available.

6

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: gerbitz kd. 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.

7

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: gerbitz kd. 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.

8

Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene.

Gerbitz KD, Paprotta A, Jaksch M, Zierz S, Drechsel J. Gerbitz KD, et al. FEBS Lett. 1993 Apr 26;321(2-3):194-6. doi: 10.1016/0014-5793(93)80106-5. FEBS Lett. 1993. PMID: 8477849 Free article.

9

Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry.

Gempel K, Kottlors M, Jaksch M, Gerbitz KD, Bauer MF. Gempel K, et al. Among authors: gerbitz kd. J Inherit Metab Dis. 1999 Dec;22(8):941-2. doi: 10.1023/a:1005655927639. J Inherit Metab Dis. 1999. PMID: 10604150 No abstract available.

10

Mitochondrial diabetes mellitus: a review.

Gerbitz KD, van den Ouweland JM, Maassen JA, Jaksch M. Gerbitz KD, et al. Biochim Biophys Acta. 1995 May 24;1271(1):253-60. doi: 10.1016/0925-4439(95)00036-4. Biochim Biophys Acta. 1995. PMID: 7599217 Free article. Review.

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