Scharfe C - Search Results

1

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.

2

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.

3

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.

4

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.

5

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

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

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.

8

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Wang W, Shen P, Thiyagarajan S, Lin S, Palm C, Horvath R, Klopstock T, Cutler D, Pique L, Schrijver I, Davis RW, Mindrinos M, Speed TP, Scharfe C. Wang W, et al. Among authors: scharfe c. Nucleic Acids Res. 2011 Jan;39(1):44-58. doi: 10.1093/nar/gkq750. Epub 2010 Sep 15. Nucleic Acids Res. 2011. PMID: 20843780 Free PMC article.

9

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.

10

Mapping gene associations in human mitochondria using clinical disease phenotypes.

Scharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, Klopstock T, Cowan TM, Enns GM, Davis RW. Scharfe C, et al. PLoS Comput Biol. 2009 Apr;5(4):e1000374. doi: 10.1371/journal.pcbi.1000374. Epub 2009 Apr 24. PLoS Comput Biol. 2009. PMID: 19390613 Free PMC article.

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