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 | 1330 | 2019 |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia E Kara, A Tucci, C Manzoni, DS Lynch, M Elpidorou, C Bettencourt, ... Brain 139 (7), 1904-1918, 2016 | 199 | 2016 |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 164 | 2019 |
A genome-wide association study in multiple system atrophy A Sailer, SW Scholz, MA Nalls, C Schulte, M Federoff, TR Price, A Lees, ... Neurology 87 (15), 1591-1598, 2016 | 155 | 2016 |
Diagnosis across the spectrum of progressive supranuclear palsy and corticobasal syndrome E Jabbari, N Holland, V Chelban, PS Jones, R Lamb, C Rawlinson, T Guo, ... JAMA neurology 77 (3), 377-387, 2020 | 104 | 2020 |
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 | 92 | 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 | 88 | 2021 |
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 | 85 | 2019 |
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease S Bandres‐Ciga, S Saez‐Atienzar, L Bonet‐Ponce, K Billingsley, D Vitale, ... Movement Disorders 34 (4), 460-468, 2019 | 75 | 2019 |
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ... Annals of Neurology 86 (2), 225-240, 2019 | 64 | 2019 |
An update on advances in magnetic resonance imaging of multiple system atrophy V Chelban, M Bocchetta, S Hassanein, NA Haridy, H Houlden, JD Rohrer Journal of neurology 266, 1036-1045, 2019 | 59 | 2019 |
Penetrance of Parkinson's Disease in LRRK2 p. G2019S Carriers Is Modified by a Polygenic Risk Score H Iwaki, C Blauwendraat, MB Makarious, AB Singleton, P Tienari | 57 | 2020 |
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 | 48 | 2019 |
Bi-allelic JAM2 variants lead to early-onset recessive primary familial brain calcification LV Schottlaender, R Abeti, Z Jaunmuktane, C Macmillan, V Chelban, ... The American Journal of Human Genetics 106 (3), 412-421, 2020 | 47 | 2020 |
Mutations in NKX6-2 cause progressive spastic ataxia and hypomyelination V Chelban, N Patel, J Vandrovcova, MN Zanetti, DS Lynch, M Ryten, ... The American Journal of Human Genetics 100 (6), 969-977, 2017 | 46 | 2017 |
Investigation of autosomal genetic sex differences in Parkinson's disease C Blauwendraat, H Iwaki, MB Makarious, S Bandres‐Ciga, HL Leonard, ... Annals of neurology 90 (1), 35-42, 2021 | 38 | 2021 |
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing D Perez-Rodriguez, M Kalyva, M Leija-Salazar, T Lashley, M Tarabichi, ... Acta Neuropathologica Communications 7 (1), 1-22, 2019 | 37 | 2019 |
Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 V Chelban, S Wiethoff, BK Fabian‐Jessing, NA Haridy, A Khan, ... Movement Disorders 33 (7), 1119-1129, 2018 | 37 | 2018 |
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia V Chelban, A Tucci, DS Lynch, JM Polke, L Santos, H Jonvik, S Groppa, ... Journal of Neurology, Neurosurgery & Psychiatry 88 (8), 681-687, 2017 | 33 | 2017 |
Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis M Vila Cuenca, G Marchi, A Barqué, C Esteban-Jurado, A Marchetto, ... International journal of molecular sciences 21 (7), 2374, 2020 | 32 | 2020 |