Krist’l Vennekens

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Marc Cruts, Ilse Gijselinck, Julie van der Zee et al. · Nature · 2006 · 1.5K citations

Neurodegenerative Diseases, Alzheimer's Disease, Mendelian Disorder +11

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

Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40

Samir Kumar‐Singh, Jessie Theuns, Bianca Van Broeck et al. · Human Mutation · 2006 · 321 citations · Full text

App Processing, Aging, Brain Ab +22

A novel presenilin 1 mutation associated with Pick's disease but not β‐amyloid plaques

Bart Dermaut, Samir Kumar‐Singh, S. Engelborghs et al. · Annals of Neurology · 2004 · 209 citations

Dense-Core Senile Plaques in the Flemish Variant of Alzheimer's Disease Are Vasocentric

Samir Kumar‐Singh, Patrick Cras, Rong Wang et al. · American Journal Of Pathology · 2002 · 110 citations · Full text

Alzheimer's Disease, Flemish Variant, Neuroanatomy +11