Nathalie Verpoorten

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Oleg V. Evgrafov, Irina Mersiyanova, Joy Irobi et al. · Nature Genetics · 2004 · 584 citations · Full text

Medicine, Neurology, Neuroscience +14

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Kristien Verhoeven, Peter De Jonghe, Katrien Coen et al. · The American Journal of Human Genetics · 2003 · 453 citations · Full text

Medicine, Neurology, Neuroscience +10

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Joy Irobi, Katrien Van Impe, Pavel Seeman et al. · Nature Genetics · 2004 · 420 citations

Medicine, Molecular Biology, Neurology +14

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi et al. · Nature Genetics · 2004 · 380 citations · Full text

Life Sciences, Genetics, Neurology +13

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Gregor Kuhlenbäumer, Mark Hannibal, Eva Nelis et al. · Nature Genetics · 2005 · 264 citations

Life Sciences, Genetics, Neuroscience +12