An Jacobs

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 the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens et al. · The American Journal of Human Genetics · 2010 · 186 citations · Full text

Molecular Neuroscience, Molecular Physiology, Autonomic Neuropathy Type +10

Ultrafiltration and size exclusion chromatography combined with asymmetrical‐flow field‐flow fractionation for the isolation and characterisation of extracellular vesicles from urine

Eline Oeyen, Kurt Van Mol, Geert Baggerman et al. · Journal of Extracellular Vesicles · 2018 · 153 citations · Full text