2003
A tRNAAla 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. A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. Journal Of Medical Genetics 2003, 40: 752. PMID: 14569122, PMCID: PMC1735288, DOI: 10.1136/jmg.40.10.752.Peer-Reviewed Original Research
2002
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. Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. Journal Of Medical Genetics 2002, 39: 812. PMID: 12414820, PMCID: PMC1735018, DOI: 10.1136/jmg.39.11.812.Peer-Reviewed Original Research
2000
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. MITOP, the mitochondrial proteome database: 2000 update. Nucleic Acids Research 2000, 28: 155-158. PMID: 10592209, PMCID: PMC102491, DOI: 10.1093/nar/28.1.155.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDatabases, FactualDNA, MitochondrialHumansMitochondrial MyopathiesProteomeSequence Homology, Amino AcidConceptsGene catalogProtein entriesComplete yeast genomeHuman diseasesMitochondrial-encoded proteinsMitochondrial proteome databaseNew mitochondrial proteinsMitochondrial proteomeYeast genomeCaenorhabditis elegansProtein catalogueMitochondrial proteinsEST hitsNeurospora crassaProteome databaseHomology searchSpecies FileMitoPSInterspecies relationshipsFASTA searchGenetic characterizationMus musculusReference sequenceEscherichia coliHomo sapiens