Katja von Au

Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa et al. · Nature Genetics · 2015 · 170 citations · Full text

Pain Syndrome, Signal Transduction, Health Sciences +8

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

Ulf‐Peter Guenther, Lusy Handoko, Bernhard Laggerbauer et al. · Human Molecular Genetics · 2009 · 130 citations · Full text

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Ellen Cottenie, Andrzej Kochański, Albena Jordanova et al. · The American Journal of Human Genetics · 2014 · 108 citations · Full text

Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Sabine Rudnik‐Schöneborn, D.V. Tolle, Jan Senderek et al. · Clinical Genetics · 2015 · 88 citations

Axonal Cmt, Genetic Testing, Index Patients +32

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis

Ulf‐Peter Guenther, Raymonda Varon, Maria Schlicke et al. · Human Mutation · 2007 · 80 citations

Genetics, Genetic Epidemiology, Pathology +19