Jürgen Seeger

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

Woranontee Weraarpachai, Hana Antonická, Florin Sasarman et al. · Nature Genetics · 2009 · 304 citations

Late-onset Leigh Syndrome, Mitochondrial Function, Genetic Disorder +8

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Michèl A.A.P. Willemsen, Marcel M. Verbeek, Erik‐Jan Kamsteeg et al. · Brain · 2010 · 228 citations · Full text

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Isabelle Thiffault, Nicole I. Wolf, Diane Forget et al. · Nature Communications · 2015 · 176 citations · Full text

Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

Claudia Stendel, Andreas Roos, Tine Deconinck et al. · The American Journal of Human Genetics · 2007 · 132 citations · Full text

Peripheral Nerve Demyelination, Neurodegenerative Diseases, Molecular Neuroscience +11

Costs of epilepsy and cost‐driving factors in children, adolescents, and their caregivers in<scp>G</scp>ermany

Janna Riechmann, Adam Strzelczyk, Jens Peter Reese et al. · Epilepsia · 2015 · 107 citations · Full text