Gábor Zsurka

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Cornelia Kornblum, Thomas J. Nicholls, Tobias B. Haack et al. · Nature Genetics · 2013 · 227 citations · Full text

Mitochondrial Myopathy, Genome Instability, Mitochondrial Function +8

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery

Viktoriya Peeva, Daniel Blei, Genevieve Trombly et al. · Nature Communications · 2018 · 210 citations · Full text

The LETM1/YOL027 Gene Family Encodes a Factor of the Mitochondrial K+ Homeostasis with a Potential Role in the Wolf-Hirschhorn Syndrome

Karin Nowikovsky, Elisabeth M. Froschauer, Gábor Zsurka et al. · Journal of Biological Chemistry · 2004 · 191 citations · Full text

The Human Mitochondrial Mrs2 Protein Functionally Substitutes for Its Yeast Homologue, A Candidate Magnesium Transporter

Gábor Zsurka, Juraj Gregáň, Rudolf J. Schweyen · Genomics · 2001 · 112 citations

Molecular Physiology, Biochemistry, Mitochondrial Function +7