Ekkehard Wilichowski

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch et al. · Journal of Medical Genetics · 2012 · 185 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diffuse White Matter Disease in Three Children: An Encephalopathy with Unique Features on Magnetic Resonance Imaging and Proton Magnetic Resonance Spectroscopy

F. Hanefeld, U. Holzbach, B. Kruse et al. · Neuropediatrics · 1993 · 180 citations

Medicine, Neurology, Neuroscience +17

GAMT deficiency

Saadet Mercimek‐Mahmutoglu, Sylvia Stoeckler-Ipsiroglu, A. Adami et al. · Neurology · 2006 · 157 citations

Medicine, Neurology, Neuroscience +17

Rearrangements of Human Mitochondrial DNA (mtDNA): New Insights into the Regulation of mtDNA Copy Number and Gene Expression

Yingying Tang, Eric A. Schon, Ekkehard Wilichowski et al. · Molecular Biology of the Cell · 2000 · 133 citations

Life Sciences, Genetics, Molecular Biology +17

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

Nathalie Goemans, Eugenio Mercuri, Hirofumi Komaki et al. · Neuromuscular Disorders · 2017 · 128 citations · Full text

Medicine, Molecular Medicine, Neuromuscular Disorders +7