| The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein LJ Ozelius, JW Hewett, CE Page, SB Bressman, PL Kramer, C Shalish, ... Nature genetics 17 (1), 40-48, 1997 | 1215 | 1997 |
| LRRK2 G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews LJ Ozelius, G Senthil, R Saunders-Pullman, E Ohmann, A Deligtisch, ... New England Journal of Medicine 354 (4), 424-425, 2006 | 831 | 2006 |
| Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma BR Seizinger, GA Rouleau, LJ Ozelius, AH Lane, GE Farmer, JM Lamiell, ... Nature 332 (6161), 268-269, 1988 | 791 | 1988 |
| A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription JL Rutter, TI Mitchell, G Butticè, J Meyers, JF Gusella, LJ Ozelius, ... Cancer research 58 (23), 5321-5325, 1998 | 720 | 1998 |
| Mutations in the Na+/K+-ATPase α3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism P de Carvalho Aguiar, KJ Sweadner, JT Penniston, J Zaremba, L Liu, ... Neuron 43 (2), 169-175, 2004 | 577 | 2004 |
| Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population N Risch, D Leon, L Ozelius, P Kramer, L Almasy, B Singer, S Fahn, ... Nature genetics 9 (2), 152-159, 1995 | 521 | 1995 |
| Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene BR Seizinger, GA Rouleau, LJ Ozelius, AH Lane, AG Faryniarz, MV Chao, ... Cell 49 (5), 589-594, 1987 | 491 | 1987 |
| The DYT1 phenotype and guidelines for diagnostic testing SB Bressman, C Sabatti, D Raymond, D De Leon, C Klein, PL Kramer, ... Neurology 54 (9), 1746-1753, 2000 | 438 | 2000 |
| Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia T Fuchs, S Gavarini, R Saunders-Pullman, D Raymond, ME Ehrlich, ... Nature genetics 41 (3), 286-288, 2009 | 392 | 2009 |
| Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease KY Hui, H Fernandez-Hernandez, J Hu, A Schaffner, N Pankratz, NY Hsu, ... Science translational medicine 10 (423), eaai7795, 2018 | 341 | 2018 |
| Mutations in GNAL cause primary torsion dystonia T Fuchs, R Saunders-Pullman, I Masuho, MS Luciano, D Raymond, ... Nature genetics 45 (1), 88-92, 2013 | 328 | 2013 |
| Human gene for torsion dystonia located on chromosome 9q32-q34 L Ozelius, PL Kramer, CB Moskowitz, DJ Kwiatkowski, MF Brin, ... Neuron 2 (5), 1427-1434, 1989 | 327 | 1989 |
| Distribution, type, and origin of Parkin mutations: Review and case studies K Hedrich, C Eskelson, B Wilmot, K Marder, J Harris, J Garrels, ... Movement disorders: official journal of the Movement Disorder Society 19 (10 …, 2004 | 316 | 2004 |
| Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis BR Seizinger, G Rouleau, LJ Ozelius, AH Lane, P St George-Hyslop, ... Science 236 (4799), 317-319, 1987 | 316 | 1987 |
| Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial Parkinsonism associated with mutations in the Parkin gene R Hilker, C Klein, M Ghaemi, B Kis, T Strotmann, LJ Ozelius, O Lenz, ... Annals of neurology 49 (3), 367-376, 2001 | 300 | 2001 |
| The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene A Brashear, WB Dobyns, P de Carvalho Aguiar, M Borg, CJM Frijns, ... Brain 130 (3), 828-835, 2007 | 285 | 2007 |
| DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease K Hedrich, A Djarmati, N Schafer, R Hering, C Wellenbrock, PH Weiss, ... Neurology 62 (3), 389-394, 2004 | 282 | 2004 |
| Parkin deletions in a family with adult‐onset, tremor‐dominant parkinsonism: Expanding the phenotype C Klein, PP Pramstaller, B Kis, CC Page, M Kann, J Leung, H Woodward, ... Annals of neurology 48 (1), 65-71, 2000 | 281 | 2000 |
| Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells J Hewett, C Gonzalez-Agosti, D Slater, P Ziefer, S Li, D Bergeron, ... Human molecular genetics 9 (9), 1403-1413, 2000 | 248 | 2000 |
| Distinct neurological disorders with ATP1A3 mutations EL Heinzen, A Arzimanoglou, A Brashear, SJ Clapcote, F Gurrieri, ... The Lancet Neurology 13 (5), 503-514, 2014 | 236 | 2014 |
