Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update K Nuytemans, J Theuns, M Cruts, C Van Broeckhoven Human mutation 31 (7), 763-780, 2010 | 684 | 2010 |
Locus‐specific mutation databases for neurodegenerative brain diseases M Cruts, J Theuns, C Van Broeckhoven Human mutation 33 (9), 1340-1344, 2012 | 603 | 2012 |
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies MA Nalls, R Duran, G Lopez, M Kurzawa-Akanbi, IG McKeith, ... JAMA neurology 70 (6), 727-735, 2013 | 481 | 2013 |
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 | 465 | 2006 |
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy K Sleegers, N Brouwers, I Gijselinck, J Theuns, D Goossens, J Wauters, ... Brain 129 (11), 2977-2983, 2006 | 464 | 2006 |
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study OA Ross, AI Soto-Ortolaza, MG Heckman, JO Aasly, N Abahuni, G Annesi, ... The Lancet Neurology 10 (10), 898-908, 2011 | 344 | 2011 |
A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats J van der Zee, I Gijselinck, L Dillen, T Van Langenhove, J Theuns, ... Human mutation 34 (2), 363-373, 2013 | 325 | 2013 |
Progress in unraveling the genetic etiology of Parkinson disease in a genomic era A Verstraeten, J Theuns, C Van Broeckhoven Trends in Genetics 31 (3), 140-149, 2015 | 286 | 2015 |
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 | 262 | 2004 |
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24. 3 M Cruts, H Backhovens, SY Wang, G Van Gassen, J Theuns, ... Human Molecular Genetics 4 (12), 2363-2371, 1995 | 236 | 1995 |
Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease J Theuns, N Brouwers, S Engelborghs, K Sleegers, V Bogaerts, E Corsmit, ... The American Journal of Human Genetics 78 (6), 936-946, 2006 | 216 | 2006 |
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy R Rademakers, S Melquist, M Cruts, J Theuns, J Del-Favero, P Poorkaj, ... Human molecular genetics 14 (21), 3281-3292, 2005 | 194 | 2005 |
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease K Haugarvoll, R Rademakers, JM Kachergus, K Nuytemans, OA Ross, ... Neurology 70 (16_part_2), 1456-1460, 2008 | 174 | 2008 |
Large-scale replication and heterogeneity in Parkinson disease genetic loci M Sharma, JPA Ioannidis, JO Aasly, G Annesi, A Brice, ... Neurology 79 (7), 659-667, 2012 | 157 | 2012 |
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 | 153 | 2007 |
Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease V Bogaerts, K Nuytemans, J Reumers, P Pals, S Engelborghs, B Pickut, ... Human mutation 29 (6), 832-840, 2008 | 145 | 2008 |
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 | 129 | 2000 |
Genetic findings in Parkinson’s disease and translation into treatment: a leading role for mitochondria? V Bogaerts, J Theuns, C Van Broeckhoven Genes, Brain and behavior 7 (2), 129-151, 2008 | 126 | 2008 |
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants M Sharma, JPA Ioannidis, JO Aasly, G Annesi, A Brice, L Bertram, M Bozi, ... Journal of medical genetics 49 (11), 721-726, 2012 | 120 | 2012 |
Alzheimer dementia caused by a novel mutation located in the APP C‐terminal intracytosolic fragment J Theuns, E Marjaux, M Vandenbulcke, K Van Laere, S Kumar‐Singh, ... Human mutation 27 (9), 888-896, 2006 | 110 | 2006 |