| Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease C Paisán-Ruı́z, S Jain, EW Evans, WP Gilks, J Simón, M Van Der Brug, ... Neuron 44 (4), 595-600, 2004 | 2827 | 2004 |
| Genome-wide association study reveals genetic risk underlying Parkinson's disease J Simon-Sanchez, C Schulte, JM Bras, M Sharma, JR Gibbs, D Berg, ... Nature genetics 41 (12), 1308-1312, 2009 | 2244 | 2009 |
| Characterization of PLA2G6 as a locus for dystonia‐parkinsonism C Paisan‐Ruiz, KP Bhatia, A Li, D Hernandez, M Davis, NW Wood, ... Annals of neurology 65 (1), 19-23, 2009 | 584 | 2009 |
| Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease WC Nichols, N Pankratz, D Hernandez, C Paisán-Ruíz, S Jain, CA Halter, ... The Lancet 365 (9457), 410-412, 2005 | 572 | 2005 |
| The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early‐Onset Progressive Parkinsonism with Generalized Seizures CE Krebs, S Karkheiran, JC Powell, M Cao, V Makarov, H Darvish, ... Human mutation 34 (9), 1200-1207, 2013 | 384 | 2013 |
| SNCA variants are associated with increased risk for multiple system atrophy SW Scholz, H Houlden, C Schulte, M Sharma, A Li, D Berg, A Melchers, ... Annals of Neurology: Official Journal of the American Neurological …, 2009 | 329 | 2009 |
| Early‐onset L‐dopa‐responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations C Paisán‐Ruiz, R Guevara, M Federoff, H Hanagasi, F Sina, E Elahi, ... Movement Disorders 25 (12), 1791-1800, 2010 | 292 | 2010 |
| The genetics of Parkinson's syndromes: a critical review J Hardy, P Lewis, T Revesz, A Lees, C Paisan-Ruiz Current opinion in genetics & development 19 (3), 254-265, 2009 | 283 | 2009 |
| DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA S Camargos, S Scholz, J Simón-Sánchez, C Paisán-Ruiz, P Lewis, ... The Lancet Neurology 7 (3), 207-215, 2008 | 264 | 2008 |
| Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) MC Kruer, C Paisán‐Ruiz, N Boddaert, MY Yoon, H Hama, A Gregory, ... Annals of neurology 68 (5), 611-618, 2010 | 255 | 2010 |
| Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations C Paisán-Ruiz, A Li, SA Schneider, JL Holton, R Johnson, D Kidd, ... Neurobiology of aging 33 (4), 814-823, 2012 | 230 | 2012 |
| Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35) KJ Dick, M Eckhardt, C Paisán‐Ruiz, AA Alshehhi, C Proukakis, ... Human mutation 31 (4), E1251-E1260, 2010 | 227 | 2010 |
| Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21 Human molecular genetics 20 (2), 345-353, 2011 | 222 | 2011 |
| ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation SA Schneider, C Paisan‐Ruiz, NP Quinn, AJ Lees, H Houlden, J Hardy, ... Movement Disorders 25 (8), 979-984, 2010 | 213 | 2010 |
| LRRK2 gene in Parkinson disease: Mutation analysis and case control association study C Paisan-Ruiz, AE Lang, T Kawarai, C Sato, S Salehi-Rad, GK Fisman, ... Neurology 65 (5), 696-700, 2005 | 213 | 2005 |
| Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma M Narooie-Nejad, SH Paylakhi, S Shojaee, Z Fazlali, M Rezaei Kanavi, ... Human molecular genetics 18 (20), 3969-3977, 2009 | 188 | 2009 |
| Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course N Setó‐Salvia, J Pagonabarraga, H Houlden, B Pascual‐Sedano, ... Movement Disorders 27 (3), 393-399, 2012 | 183 | 2012 |
| LRRK2: cause, risk, and mechanism C Paisán-Ruiz, PA Lewis, AB Singleton Journal of Parkinson's disease 3 (2), 85-103, 2013 | 166 | 2013 |
| GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias SA Schneider, C Paisan‐Ruiz, I Garcia‐Gorostiaga, NP Quinn, YG Weber, ... Movement disorders: official journal of the Movement Disorder Society 24 (11 …, 2009 | 139 | 2009 |
| LTBP2 mutations cause Weill–Marchesani and Weill–Marchesani‐like syndrome and affect disruptions in the extracellular matrix R Haji‐Seyed‐Javadi, S Jelodari‐Mamaghani, SH Paylakhi, S Yazdani, ... Human mutation 33 (8), 1182-1187, 2012 | 137 | 2012 |
