A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN) A12308G and tRNAThr C15946T mutations

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

Massimo Zeviani, Cinzia Gellera, Carlo Antozzi et al. · The Lancet · 1991 · 383 citations

Medicine, Genetics, Molecular Genetics +12

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

A.J.M. Janssen, Frans J.M. Trijbels, R. C. A. Sengers et al. · Clinical Chemistry · 2007 · 364 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16

Clinical and molecular findings in children with complex I deficiency

Marianna Bugiani, Federica Invernizzi, Simona Alberio et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2004 · 263 citations

Life Sciences, Genetics, Pediatrics +10

Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations

Min‐Xin Guan, Qingfeng Yan, Xiaoming Li et al. · The American Journal of Human Genetics · 2006 · 222 citations · Full text

Life Sciences, Genetics, Molecular Biology +17