Peter Nürnberg

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 252 citations

Biology, Plant Biology, Genetics +5

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Julian Schubert, Aleksandra Siekierska, Mélanie Langlois et al. · Nature Genetics · 2014 · 195 citations

Neurobiology Of Disease, Neurological Disorder, Genetic Disorder +10

Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Katia Hardies, Carolien G. F. de Kovel, Sarah Weckhuysen et al. · Brain · 2015 · 111 citations · Full text

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

Peter Huppke, Cornelia Brendel, Vera M. Kalscheuer et al. · The American Journal of Human Genetics · 2012 · 101 citations · Full text

Mendelian Disorder, Ophthalmology, Genetic Disorder +8

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy

Pasquale Striano, Yvonne Weber, Mohammad R. Toliat et al. · Neurology · 2012 · 93 citations