| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease MA Nalls, N Pankratz, CM Lill, CB Do, DG Hernandez, M Saad, ... Nature genetics 46 (9), 989-993, 2014 | 2063 | 2014 |
| α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy? AP Kiely, YT Asi, E Kara, P Limousin, H Ling, P Lewis, C Proukakis, ... Acta neuropathologica 125, 753-769, 2013 | 518 | 2013 |
| Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA TB Haack, P Hogarth, MC Kruer, A Gregory, T Wieland, T Schwarzmayr, ... The American journal of human genetics 91 (6), 1144-1149, 2012 | 354 | 2012 |
| Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia K Tuschl, E Meyer, LE Valdivia, N Zhao, C Dadswell, A Abdul-Sada, ... Nature communications 7 (1), 11601, 2016 | 287 | 2016 |
| 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 | 220 | 2016 |
| Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia J Hersheson, NE Mencacci, M Davis, N MacDonald, D Trabzuni, M Ryten, ... Annals of neurology 73 (4), 546-553, 2013 | 196 | 2013 |
| Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation AP Kiely, H Ling, YT Asi, E Kara, C Proukakis, AH Schapira, HR Morris, ... Molecular neurodegeneration 10, 1-17, 2015 | 117 | 2015 |
| Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene R Guerreiro, E Kara, I Le Ber, J Bras, JD Rohrer, R Taipa, T Lashley, ... JAMA neurology 70 (7), 875-882, 2013 | 102 | 2013 |
| Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation C Manzoni, A Mamais, S Dihanich, P McGoldrick, MJ Devine, J Zerle, ... Biochemical and biophysical research communications 441 (4), 862-866, 2013 | 101 | 2013 |
| The MAPT p. A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features E Kara, H Ling, AM Pittman, K Shaw, R de Silva, R Simone, JL Holton, ... Neurobiology of aging 33 (9), 2231. e7-2231. e14, 2012 | 82 | 2012 |
| THAP1 mutations and dystonia phenotypes: genotype phenotype correlations G Xiromerisiou, H Houlden, N Scarmeas, M Stamelou, E Kara, J Hardy, ... Movement disorders 27 (10), 1290-1294, 2012 | 75 | 2012 |
| A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations E Kara, AP Kiely, C Proukakis, N Giffin, S Love, J Hehir, K Rantell, ... JAMA neurology 71 (9), 1162-1171, 2014 | 69 | 2014 |
| TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p. Q124E MAPT H Ling, E Kara, R Bandopadhyay, J Hardy, J Holton, G Xiromerisiou, ... Neurobiology of aging 34 (12), 2889. e5-2889. e9, 2013 | 58 | 2013 |
| α-Synuclein mutations cluster around a putative protein loop E Kara, PA Lewis, H Ling, C Proukakis, H Houlden, J Hardy Neuroscience letters 546, 67-70, 2013 | 55 | 2013 |
| Sex-dependent calcium hyperactivity due to lysosomal-related dysfunction in astrocytes from APOE4 versus APOE3 gene targeted replacement mice R Larramona-Arcas, C González-Arias, G Perea, A Gutiérrez, J Vitorica, ... Molecular neurodegeneration 15, 1-23, 2020 | 43 | 2020 |
| Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer H Ling, E Kara, T Revesz, AJ Lees, GT Plant, D Martino, H Houlden, ... Acta neuropathologica communications 2, 1-11, 2014 | 34 | 2014 |
| Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity A Tucci, E Kara, A Schossig, NI Wolf, V Plagnol, K Fawcett, C Paisán‐Ruiz, ... Human mutation 34 (2), 296-300, 2013 | 32 | 2013 |
| The pallidopyramidal syndromes: nosology, aetiology and pathogenesis E Kara, J Hardy, H Houlden Current opinion in neurology 26 (4), 381-394, 2013 | 29 | 2013 |
| Isoform-and cell type-specific structure of apolipoprotein E lipoparticles as revealed by a novel Forster resonance energy transfer assay E Kara, JD Marks, Z Fan, JA Klickstein, AD Roe, KA Krogh, S Wegmann, ... Journal of Biological Chemistry 292 (36), 14720-14729, 2017 | 28 | 2017 |
| Pathogenic PS1 phosphorylation at Ser367 M Maesako, J Horlacher, KM Zoltowska, KV Kastanenka, E Kara, ... elife 6, e19720, 2017 | 27 | 2017 |
Professor Tamas ReveszEmeritus Professor of Neuropathology, UCL Queen Square Institute of Neurology, Univ Coll London在 ucl.ac.uk 的电子邮件经过验证
