Simone Diekmann

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection

Marco Henneke, Simone Diekmann, Andreas Ohlenbusch et al. · Nature Genetics · 2009 · 151 citations · Full text

Neurovirology, Medicine, Pathogenesis +6

<i>rnaset2</i> mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA

Noemie Magali Renee Haud, Firat Kara, Simone Diekmann et al. · Proceedings of the National Academy of Sciences · 2011 · 111 citations · Full text

Ribosomal Rna, Genetics, Acidic Endoribonucleases +20

<i>GJA12</i> mutations are a rare cause of Pelizaeus-Merzbacher-like disease

Marco Henneke, Patricia Combes, Simone Diekmann et al. · Neurology · 2007 · 84 citations

Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction

Simone Diekmann, Marco Henneke, Birgitta C. Burckhardt et al. · European Journal of Human Genetics · 2010 · 31 citations · Full text

Pelizaeus–merzbacher-like Disease, Disease Mechanism, Disease Pathophysiology +10