Andrzej Kochański

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Jonathan Baets, Tine Deconinck, Els De Vriendt et al. · Brain · 2011 · 132 citations · Full text

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

Ines Dierick, Jonathan Baets, Joy Irobi et al. · Brain · 2007 · 122 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

Charcot–Marie–Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential

Rebecca Noack, Svenja Frede, Philipp Albrecht et al. · Human Molecular Genetics · 2011 · 91 citations · Full text

<i>SIMPLE</i>mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

Gulam Mustafa Saifi, Kinga Szigeti, Wojciech Wiszniewski et al. · Human Mutation · 2005 · 83 citations

Ubiquitinated Proteins, Genetics, Molecular Biology +20