Wolfgang Sperl

Mitochondrial translation requires folate-dependent tRNA methylation

Raphael J. Morscher, Gregory S. Ducker, Hsin‐Jung Li et al. · Nature · 2018 · 259 citations · Full text

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Johannes A. Mayr, Tobias B. Haack, Elisabeth Graf et al. · The American Journal of Human Genetics · 2012 · 218 citations · Full text

Mitophagy, Signal Transduction, Mitochondrial Function +7

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Čížková, Viktor Stránecký, Johannes A. Mayr et al. · Nature Genetics · 2008 · 197 citations

Mitochondrial Myopathy, Neonatal Mitochondrial Encephalocardiomyopathy, Mitochondrial Biogenesis +8

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Sarah C. Grünert, S. Müllerleile, Linda De Silva et al. · Orphanet Journal of Rare Diseases · 2013 · 185 citations · Full text

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch et al. · Journal of Medical Genetics · 2012 · 183 citations · Full text