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| Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions G Van Goethem, B Dermaut, A Löfgren, JJ Martin, C Van Broeckhoven Nature genetics 28 (3), 211-212, 2001 | 957 | 2001 |
| Mean age‐of‐onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40 S Kumar‐Singh, J Theuns, B Van Broeck, D Pirici, K Vennekens, ... Human mutation 27 (7), 686-695, 2006 | 470 | 2006 |
| Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology J Chapuis, F Hansmannel, M Gistelinck, A Mounier, ... Molecular psychiatry 18 (11), 1225-1234, 2013 | 424 | 2013 |
| Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia G Van Goethem, JJ Martin, B Dermaut, A Löfgren, A Wibail, D Ververken, ... Neuromuscular disorders 13 (2), 133-142, 2003 | 277 | 2003 |
| A novel presenilin 1 mutation associated with Pick's disease but not β‐amyloid plaques B Dermaut, S Kumar‐Singh, S Engelborghs, J Theuns, R Rademakers, ... Annals of Neurology: Official Journal of the American Neurological …, 2004 | 264 | 2004 |
| Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort I Gijselinck, S Van Mossevelde, J Van Der Zee, A Sieben, S Philtjens, ... Neurology 85 (24), 2116-2125, 2015 | 200 | 2015 |
| CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro J van der Zee, H Urwin, S Engelborghs, M Bruyland, R Vandenberghe, ... Human molecular genetics 17 (2), 313-322, 2008 | 188 | 2008 |
| CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia H Fujigasaki, JJ Martin, PP De Deyn, A Camuzat, D Deffond, G Stevanin, ... Brain 124 (10), 1939-1947, 2001 | 186 | 2001 |
| Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia S Weckhuysen, E Marsan, V Lambrecq, C Marchal, M Morin‐Brureau, ... Epilepsia 57 (6), 994-1003, 2016 | 184 | 2016 |
| Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy G Van Goethem, M Schwartz, A Löfgren, B Dermaut, C Van Broeckhoven, ... European journal of human genetics 11 (7), 547-549, 2003 | 181 | 2003 |
| Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer B Dermaut, KK Norga, A Kania, P Verstreken, H Pan, Y Zhou, P Callaerts, ... The Journal of cell biology 170 (1), 127-139, 2005 | 166 | 2005 |
| Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes DC Diaper, Y Adachi, B Sutcliffe, DM Humphrey, CJH Elliott, A Stepto, ... Human molecular genetics 22 (8), 1539-1557, 2013 | 161 | 2013 |
| Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family N Brouwers, K Nuytemans, J van der Zee, I Gijselinck, S Engelborghs, ... Archives of neurology 64 (10), 1436-1446, 2007 | 155 | 2007 |
| TDP-43-mediated neurodegeneration: towards a loss-of-function hypothesis? LV Broeck, P Callaerts, B Dermaut Trends in molecular medicine 20 (2), 66-71, 2014 | 141 | 2014 |
| Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects S Engelborghs, B Dermaut, J Goeman, J Saerens, P Marien, BA Pickut, ... Journal of Medical Genetics 40 (11), 814-814, 2003 | 139 | 2003 |
| Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval R Rademakers, M Cruts, B Dermaut, K Sleegers, SM Rosso, ... Molecular psychiatry 7 (10), 1064-1074, 2002 | 136 | 2002 |
| Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia J van der Zee, I Le Ber, S Maurer‐Stroh, S Engelborghs, I Gijselinck, ... Human mutation 28 (4), 416-416, 2007 | 135 | 2007 |
| PRNP Val129 homozygosity increases risk for early‐onset Alzheimer's disease B Dermaut, EA Croes, R Rademakers, M Van den Broeck, M Cruts, ... Annals of Neurology: Official Journal of the American Neurological …, 2003 | 134 | 2003 |
| Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer’s disease and variable expression J Theuns, J Del-Favero, B Dermaut, CM Duijn, H Backhovens, MV Broeck, ... Human molecular genetics 9 (3), 325-331, 2000 | 132 | 2000 |
