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Molecular and Cellular Biochemistry|October 6, 1997
Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndromeS Hofmann, R Bezold, M Jaksch, et al.
Genomics|January 1, 1997
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypesS Hofmann, R Bezold, M Jaksch, et al.
Human Molecular Genetics|September 25, 1997
Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with diseaseS Hofmann, M Jaksch, R Bezold, et al.
Clinical Chemistry and Laboratory Medicine|December 22, 1999
Mitochondrial disorders. A diagnostic challenge in clinical chemistryM F Bauer, K Gempel, S Hofmann, et al.
Clinical Biochemistry|October 1, 1995
Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysisM Jaksch, K D Gerbitz, C Kilger
FEBS Letters|April 26, 1993
Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) geneK D Gerbitz, A Paprotta, M Jaksch, et al.
Biochimica Et Biophysica Acta|May 24, 1995
Mitochondrial diabetes mellitus: a reviewK D Gerbitz, J M van den Ouweland, J A Maassen, et al.
Journal of Medical Genetics|December 1, 1998
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 encephalopathyM Jaksch, S Hofmann, S Kleinle, et al.
Annals of Neurology|October 20, 1998
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) geneM Jaksch, T Klopstock, G Kurlemann, et al.
Annals of Neurology|August 12, 1999
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiencyV Tiranti, M Jaksch, S Hofmann, et al.
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