Aikaterini Dimopoulou

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

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Vishwanathan Hucthagowder, Éva Morava, Uwe Kornak et al. · Human Molecular Genetics · 2009 · 139 citations · Full text

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Björn Fischer‐Zirnsak, Aikaterini Dimopoulou, Johannes Egerer et al. · Human Genetics · 2012 · 93 citations

Genetics, Molecular Genetics, Molecular Research +2

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Thatjana Gardeitchik et al. · Molecular Genetics and Metabolism · 2013 · 71 citations

Biology, Genetic Disorder, Genetics +6

Further expansion of the phenotypic spectrum associated with mutations in <i>ALDH18A1</i>, encoding Δ¹‐pyrroline‐5‐carboxylate synthase (P5CS)

David Skidmore, David Chitayat, Tim Morgan et al. · American Journal of Medical Genetics Part A · 2011 · 69 citations