Bart Dermaut

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

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Gert Van Goethem, Bart Dermaut, A. Löfgren et al. · Nature Genetics · 2001 · 831 citations

Ocular Disease, Ophthalmology, Genetic Disorder +8

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

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

G. Van Goethem, J.J. Martin, Bart Dermaut et al. · Neuromuscular Disorders · 2003 · 244 citations

Ocular Disease, Mendelian Disorder, Ophthalmology +10

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