Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ... The Lancet Neurology 18 (12), 1091-1102, 2019 | 2114 | 2019 |
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2) JM Serratosa, P Gómez-Garre, ME Gallardo, B Anta, DBV de Bernabé, ... Human molecular genetics 8 (2), 345-352, 1999 | 273 | 1999 |
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores I De Rojas, S Moreno-Grau, N Tesi, B Grenier-Boley, V Andrade, ... Nature communications 12 (1), 3417, 2021 | 270 | 2021 |
Genome‐wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: the GR@ ACE project S Moreno‐Grau, I De Rojas, I Hernández, I Quintela, L Montrreal, ... Alzheimer's & Dementia 15 (10), 1333-1347, 2019 | 168 | 2019 |
Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets DA Kia, D Zhang, S Guelfi, C Manzoni, L Hubbard, RH Reynolds, J Botía, ... JAMA neurology 78 (4), 464-472, 2021 | 166 | 2021 |
Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation ME Fernández-Sánchez, O Criado-García, KE Heath, B García-Fojeda, ... Human molecular genetics 12 (23), 3161-3171, 2003 | 142 | 2003 |
Lafora disease due to EPM2B mutations: A clinical and genetic study C Gómez-Abad, P Gómez-Garre, E Gutiérrez-Delicado, S Saygi, ... Neurology 64 (6), 982-986, 2005 | 135 | 2005 |
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset KJ Billingsley, IA Barbosa, S Bandrés-Ciga, JP Quinn, VJ Bubb, ... npj Parkinson's Disease 5 (1), 8, 2019 | 122 | 2019 |
GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease S Jesus, I Huertas, I Bernal-Bernal, M Bonilla-Toribio, ... PloS one 11 (12), e0167749, 2016 | 117 | 2016 |
Non-motor symptoms burden, mood, and gait problems are the most significant factors contributing to a poor quality of life in non-demented Parkinson's disease patients: Results … D Santos García, T de Deus Fonticoba, E Suárez Castro, C Borrué, ... Parkinsonism & related disorders, 2019 | 107 | 2019 |
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability RH Reynolds, J Botía, MA Nalls, J Hardy, SA Gagliano Taliun, M Ryten npj Parkinson's Disease 5 (1), 6, 2019 | 102 | 2019 |
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12 SF Berkovic, JM Serratosa, HA Phillips, L Xiong, E Andermann, ... Epilepsia 45 (9), 1054-1060, 2004 | 90 | 2004 |
Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score H Iwaki, C Blauwendraat, MB Makarious, S Bandrés‐Ciga, HL Leonard, ... Movement Disorders 35 (5), 774-780, 2020 | 83 | 2020 |
Genome‐wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus? K Lohmann, A Schmidt, A Schillert, S Winkler, A Albanese, F Baas, ... Movement Disorders 29 (7), 921-927, 2014 | 75 | 2014 |
Non-motor symptoms burden, mood, and gait problems are the most significant factors contributing to a poor quality of life in non-demented Parkinson's disease patients: Results … DS García, T de Deus Fonticoba, ES Castro, C Borrué, M Mata, BS Vila, ... Parkinsonism & Related Disorders 66, 151-157, 2019 | 72 | 2019 |
Low serum uric acid concentration in Parkinson's disease in southern Spain S Jesus, I Perez, MT Cáceres‐Redondo, F Carrillo, M Carballo, ... European journal of neurology 20 (1), 208-210, 2013 | 72 | 2013 |
The genetic architecture of Parkinson disease in Spain: characterizing population‐specific risk, differential haplotype structures, and providing etiologic insight S Bandres‐Ciga, S Ahmed, MS Sabir, C Blauwendraat, ... Movement Disorders 34 (12), 1851-1863, 2019 | 70 | 2019 |
Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31. 1 R Ros, P Gómez Garre, M Hirano, YF Tai, I Ampuero, L Vidal, A Rojo, ... Annals of Neurology: Official Journal of the American Neurological …, 2005 | 70 | 2005 |
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions P Gomez-Garre, Y Sanz, SR de Córdoba, JM Serratosa European Journal of Human Genetics 8 (12), 946-954, 2000 | 69 | 2000 |
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene F Díaz‐Otero, M Quesada, J Morales‐Corraliza, C Martínez‐Parra, ... Epilepsia 49 (3), 516-520, 2008 | 65 | 2008 |