Moritz Meins

MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin

Ralf Ulrich Trappe, Franco Laccone, Joana Cobilanschi et al. · The American Journal of Human Genetics · 2001 · 282 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Miriam Gordillo, Hugo Vega, Alison Trainer et al. · Human Molecular Genetics · 2008 · 128 citations · Full text

Genetics, Genomic Mechanism, Pathology +23

Phenotypic variability in 49 cases of <i>ESCO2</i> mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with <i>ESCO2</i> expression and establishes the clinical criteria for Roberts syndrome

Horacio Astudillo‐de la Vega, Alison Trainer, Miriam Gordillo et al. · Journal of Medical Genetics · 2009 · 107 citations · Full text

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

Franco Laccone, Peter Huppke, F. Hanefeld et al. · Human Mutation · 2001 · 80 citations

Rett Syndrome, Genetics, Genetic Epidemiology +18

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)

Kathrin Engelfried, Matthias Vorgerd, Michaela Hagedorn et al. · BMC Medical Genetics · 2006 · 71 citations · Full text