Scharfe C - 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. Among authors: scharfe c. 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

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: scharfe c. 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.

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: scharfe c. 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

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.

Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M. Scharfe C, et al. J Med Genet. 2000 Sep;37(9):669-73. doi: 10.1136/jmg.37.9.669. J Med Genet. 2000. PMID: 10978358 Free PMC article.

5

The role of selection in the evolution of human mitochondrial genomes.

Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis K, Passarino G, Underhill PA, Scharfe C, Torroni A, Scozzari R, Modiano D, Coppa A, de Knijff P, Feldman M, Cavalli-Sforza LL, Oefner PJ. Kivisild T, et al. Among authors: scharfe c. Genetics. 2006 Jan;172(1):373-87. doi: 10.1534/genetics.105.043901. Epub 2005 Sep 19. Genetics. 2006. PMID: 16172508 Free PMC article.

6

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. 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.

7

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: scharfe c. Hum Mol Genet. 1998 Dec;7(13):2021-8. doi: 10.1093/hmg/7.13.2021. Hum Mol Genet. 1998. PMID: 9817917

8

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. 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.

9

Systematic screen for human disease genes in yeast.

Steinmetz LM, Scharfe C, Deutschbauer AM, Mokranjac D, Herman ZS, Jones T, Chu AM, Giaever G, Prokisch H, Oefner PJ, Davis RW. Steinmetz LM, et al. Among authors: scharfe c. Nat Genet. 2002 Aug;31(4):400-4. doi: 10.1038/ng929. Epub 2002 Jul 22. Nat Genet. 2002. PMID: 12134146

10

Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.

van der Zwaag B, Burbach JP, Scharfe C, Oefner PJ, Brunner HG, Padberg GW, van Bokhoven H. van der Zwaag B, et al. Among authors: scharfe c. Genomics. 2005 Jul;86(1):55-67. doi: 10.1016/j.ygeno.2005.03.007. Epub 2005 Apr 20. Genomics. 2005. PMID: 15953540

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