Felix Dıstelmaıer

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Laura S. Kremer, Katharina Danhauser, Diran Herebıan et al. · The American Journal of Human Genetics · 2016 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical spectrum of the pseudotumor cerebri complex in children

Daniel Tibussek, Dominik T. Schneider, Nicola Vandemeulebroecke et al. · Child s Nervous System · 2009 · 62 citations

Medicine, Pathology, Pediatrics +9

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

Katharina Danhauser, Diran Herebıan, Tobias B. Haack et al. · European Journal of Human Genetics · 2015 · 53 citations

Medicine, Genetics, Molecular Genetics +15

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck et al. · Nature Communications · 2019 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Alessandro Esposito, Antonio Falace, Matias Wagner et al. · Brain · 2019 · 46 citations · Full text

Life Sciences, Genetics, Neurology +17