E. Bonilla

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Carlos T. Moraes, Sara Shanske, Hans Tritschler et al. · PubMed · 1991 · 590 citations

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

Monica Sciacco, E. Bonilla, Eric A. Schon et al. · Human Molecular Genetics · 1994 · 304 citations

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

Carlos T. Moraes, Federica Ciacci, Gabriella Silvestri et al. · Neuromuscular Disorders · 1993 · 237 citations

Somatic Variant, Mitochondrial Function, Genetic Disorder +12

Acute quadriplegic myopathy

Michio Hirano, B. Ott, Eric C. Raps et al. · Neurology · 1992 · 221 citations

Asthma, Myosin Isoforms, Clinical Finding +15

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

Carlos T. Moraes, Federica Ciacci, E. Bonilla et al. · Journal of Clinical Investigation · 1993 · 220 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +19