J Reunert, R Wentzell, M Walter, S Jakubiczka, M Zenker, T Brune, S Rust, T Marquardt
European Journal of Human Genetics 20 (9), 933–937 (2012)
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy
P Muschke, U Kölsch, S Jakubiczka, I Wieland, T Brune, P Wieacker
American Journal of Medical Genetics Part A 143 (23), 2810–2814 (2007)
The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy
R Cortese, F Eckhardt, M Volleth, M Wehnert, U Koelsch, P Wieacker, T Brune
Journal of Molecular Endocrinology 38 (6), 663–671 (2007)
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson‐Gilford progeria syndrome (HGPS)
J Denecke, T Brune, T Feldhaus, H Robenek, C Kranz, RJ Auchus, T Marquardt
Human Mutation 27 (6), 524–531 (2006)
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria
J Kirschner, T Brune, M Wehnert, J Denecke, C Wasner, A Feuer, T Marquardt
Annals of Neurology 57 (1), 148–151 (2005)