Eleanna Kara
Eleanna Kara
HFSP Long Term fellow, UCL
Verified email at ucl.ac.uk
TitleCited byYear
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, 2014
10612014
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 (5), 753-769, 2013
2812013
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
2412012
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
1312013
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, 11601, 2016
1102016
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
812016
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
712013
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
622013
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
612012
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
532012
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), 41, 2015
452015
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
412014
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
392013
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
292013
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), 24, 2014
202014
The pallidopyramidal syndromes: nosology, aetiology and pathogenesis
E Kara, J Hardy, H Houlden
Current opinion in neurology 26 (4), 381, 2013
202013
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
162013
Assessment of Parkinson's disease risk loci in Greece
E Kara, G Xiromerisiou, C Spanaki, M Bozi, G Koutsis, M Panas, ...
Neurobiology of aging 35 (2), 442. e9-442. e16, 2014
152014
Analysis of Parkinson's disease brain–derived DNA for alpha‐synuclein coding somatic mutations
C Proukakis, M Shoaee, J Morris, T Brier, E Kara, UM Sheerin, ...
Movement Disorders 29 (8), 1060-1064, 2014
132014
THAP1 mutations in a Greek primary blepharospasm series.
G Xiromerisiou, E Dardiotis, EE Tsironi, G Hadjigeorgiou, S Ralli, E Kara, ...
Parkinsonism & related disorders 19 (3), 404-405, 2013
132013
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