Els De Vriendt

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 · 452 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Genetic Disorder +7

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 · 416 citations

Peripheral Nerves, Protein Folding, Medicine +6

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Albena Jordanova, Joy Irobi, Florian P. Thomas et al. · Nature Genetics · 2006 · 366 citations · Full text

Molecular Neuroscience, Biochemistry, Neuroanatomy +13

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Gregor Kuhlenbäumer, Mark Hannibal, Eva Nelis et al. · Nature Genetics · 2005 · 259 citations

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Molecular Neuroscience +8

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype

Peter De Jonghe, Vincent Timmerman, C. Ceuterick et al. · Brain · 1999 · 221 citations · Full text