Publications
2022
1. Merve, A., Schneider, U., Kara, E., Papadopoulou, C., Stenzel, W. Muscle biopsy in myositis: what the rheumatologists need to know. Best Practice and Research: Clinical Rheumatology.
2021
2. Mackenzie, S., Shafat, M., Roddy, H., Hyare, H., Neill, L., Marzollini, M., Gilhooley, M., Marafiotti, T., Kara, E., Sanchez, E., Rees, J., Lynch, D., Thomson, K., Ardeshna, K., Laurence, A., Peggs, K., O’Reilly, M., Roddie, C. Pembrolizumab for the treatment of progressive multifocal leukoencephalopathy following CD19 chimeric antigen receptor T-cell therapy. eJHaem.
3. Vavouraki, N., Tomkins, J.E., Kara, E., Houlden, H., Hardy, J., Tindall, M.J., Lewis, P.A., Manzoni, C. Integrating protein networks and machine learning for disease stratification of the Hereditary Spastic Paraplegias. iScience.
4. Kara, E., Crimi, A.*, Wiedmer, A.*, Emmenegger, M.*, Manzoni, C., Bandres-Ciga, S., D’Sa, K., Reynolds, R., Botía, J., Losa, M., Lysenko, V., Carta, M., Heinzer, D., Avar, M., Chincisan, A., Blauwendraat, C., Garcia Ruiz, S., Pease, D., Mottier, L., Carrella, A., Schneider, D., Magalhaes, A., Aemisegger, C., Theocharides, A., Fan, Z., Marks, J., Hopp, S., Abramov, A.Y., Lewis, P.A., Ryten, M., Hardy, J., Hyman, B., Aguzzi, A. An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of a-synuclein. Cell Reports. (*equal contribution)
2020
5. Larramona-Arcas, R., González-Arias, C., Perea, G., Gutiérrez, A., Vitorica, J., García-Barrera, T.; Gómez-Ariza, J.L.; Pascua-Maestro, R.; Ganfornina, M.D.; Kara, E.; Hudry, E.; Martínez-Vicente, M.; Vila, M.; Galea, E.; Masgrau, R. Calcium hyperactivity due to lysosomal dysfunction in astrocytes from APOE4 gene targeted replacement mice. Mol Neurodegener. 2020 Jun 9;15(1):35. doi: 10.1186/s13024-020-00382-8.
2018
6. Kara, E., Marks, J.D., Aguzzi, A. Toxic Protein Spread in Neurodegeneration: Reality versus Fantasy. Trends Mol Med. 2018 Dec;24(12):1007-1020. doi: 10.1016/j.molmed.2018.09.004. Epub 2018 Nov 12.
7. Kara, E.*, Marks, J.D.*, Roe, A.D.#, Commins, C.#, Fan, Z., Wegmann, S., Hudry, E., Hyman, B.T. A novel flow cytometry interaction assay reveals the formation of isoform- and cell type-specific ApoE-amyloid complexes in vitro. J Biol Chem. 2018 Aug 24;293(34):13247-13256. doi: 10.1074/jbc.RA117.001388. (*equal contribution, #equal contribution)
2017
8. Kara, E., Marks, J.D., Fan, Z., Klickstein, J.A., Roe, A.D., Krogh, K.A., Wegmann, S., Maesako, M., Luo, C.C., Mylvaganam, R., Berezovska, O., Hudry, E., Hyman, B.T. Isoform and cell type-specific structure of Apolipoprotein E lipoparticles as revealed by a novel Forster Resonance Energy Transfer assay. J Biol Chem. 2017 Jul 6. pii: jbc.M117.784264. doi: 10.1074/jbc.M117.784264.
9. Makedou, K.G., Iliadis, S., Gogou, M., Kara , E., Papageorgiou, G. Sesame oil: An ex vivo study of properties against oxidation of plasma low-density lipoproteins and total serum lipoproteins. Hellenic J Cardiol. 2017 May 9. pii: S1109-9666(17)30216-6. doi: 10.1016/j.hjc.2017.01.029.
10. Maesako, M.*, Horlacher, J.*, Zoltowska, K.M., Kastanenka, K.V, Kara, E., Svirsky, S., Keller, L., Li, X., Bacskai, B.J., Hyman, B.T., Berezovska, O. Activity-driven phosphorylation at the Serine 367 is responsible for pathogenic conformational change of the PS1/g-secretase. Elife. 2017 Jan 30;6. pii: e19720. doi: 10.7554/eLife.19720. (*Joint first authors with equal contribution)
2016
11. Kara, E., Tucci, A.*, Manzoni, C.*, Lynch, D.S., Elpidorou, M., Bettencourt, C., Chelban, V., Manolee, A., Hamed, S., Federoff, M., Preza, E., Hughes, D., Pittman, A., Jaunmuktane, Z., Brandner, S., Xiromerisiou, G., Wiethoff, S., Schottlaender, L., Proukakis, C., Morris, H., Warner, T., Bhatia, K.P., Korlipara, P., Singleton A.B., Hardy, J., Wood, N.W., Lewis, P.A., Houlden, H. Genetic, functional and phenotypic characterisation of complex hereditary spastic paraplegia. Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. (*Joint second authors with equal contribution)
12. Tuschl, K., Meyer, E., Valdivia, L.E., Zhao, N., Dadswell, C., Abdul-Sada, A., Rihel, J., Hung, C.Y., Simpson, M.A., Chong, K.W., Jacques, T.S., Woltjer, R.L., Eaton, S., Sanford, L., Kara, E., Houlden, H., Cuno, S., Prokisch, H., Valletta, L., Tiranti, V., Younis, R., Maher, E., Straatman-Iwanowska, A., Gissen, P., Selim, L.A.M., Pintos-Morell, G., Mohammed, S., Yoganathan, S., Dale, R.C., Thomas, M., Bodamer, O.A., Enns, C.A., Hayflick, S.J., Clayton, P.T., Mills, P.B.*, Kurian, M.A.*, Wilson, S.W.* Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. (*Joint senior authors with equal contribution)
2015
13. Kiely, A.P., Ling, H., Asi, Y.T., Kara, E., Proukakis, C., Schapira, A.H., Morris, H.R., Roberts, H.C., Lubbe, S., Limousin, P., Lewis, P.A., Lees, A.J., Quinn, N., Hardy, J., Love, S., Revesz, T., Houlden, H., Holton, J.L. Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Mol Neurodegener. 2015 Aug 27;10:41. doi: 10.1186/s13024-015-0038-3.
14. Nalls, M.A., Bras, J., Hernandez, D.G., Keller, M.F., Majounie, E., Renton, A.E., Saad, M., Jansen, I., Guerreiro, R., Lubbe, S., Plagnol, V., Gibbs, J.R., Schulte, C., Pankratz, N., Sutherland, M., Bertram, L., Lill, C.M., DeStefano, A.L., Faroud, T., Eriksson, N., Tung, J.Y., Edsall, C., Nichols, N., Brooks, J., Arepalli, S., Pliner, H., Letson, C., Heutink, P., Martinez, M., Gasser, T., Traynor, B.J., Wood, N., Hardy, J., Singleton, A.B.; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Disease meta-analysis consortium*. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging. 2015 Mar;36(3):1605.e7-12. (*Kara, E., consortium membership).
2014
15. Nalls, M.A.*, Pankratz, N.*, Lill, C., Do, C.B., Hernandez, D.G., Saad, M., DeStefano, A., Kara, E., Bras, J., Sharma, M., Schulte, C., Keller, M., Arepalli, S., Letson, C., Edsall, C., Liu, X., Pliner, H., Lee, J., Cheng, R., IPDGC, PSG-PROGENI, 23andMe, GenePD, NGRC, HIHG, CHARGE, NABEC, UKBEC, GPDC, Ikram, M.A., Ioannidis, J.P.A., Hadjigeorgiou, G.M., Bis, J.C., Martinez, M., Perlmutter, J.S., Goate, A., Marder, K., Fiske, B., Sutherland, M., Xiromerisiou, G., Myers, R.H., Clark, L.N., Hardy, J.A., Heutink, P., Chen, H., Wood, N.W., Houlden, H., Payami, H., Brice, A., Scott, W.K., Gasser, T., Bertram, L., Eriksson, N., Foroud, T., Singleton, A.B. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. (*Joint first authors with equal contribution)
16. Kara, E., Kiely, A., Proukakis, C., Giffin, N., Love, S., Hehir, J., Rantell, K., Pandraud, A., Hernandez, D.G., Nacheva, E., Pittman, A.M., Nalls, M.A., Singleton, A.B., Revesz, T., Bhatia, K., Quinn, N., Hardy, J., Holton, J.L., Houlden, H. A 6.4MB duplication of the alpha-synuclein locus causing fronto-temporal dementia and parkinsonism - phenotype-genotype correlations. JAMA Neurol. 2014 Sep;71(9):1162-71. doi: 10.1001/jamaneurol.2014.994.
17. Nowak, V.A., Bremner, F., Massey, L., Wokke, B., Moosavi, R., Kara, E., Houlden, H. Hereditary spastic paraplegia: macular appearance is pathognomonic of Kjellin syndrome. Pract Neurol. 2014 Aug;14(4):278-9. doi: 10.1136/practneurol-2014-000861.
18. Proukakis, C., Shoaee, M., Morris, J., Brier, T., Kara, E., Sheerin, U.M., Charlesworth, G., Tolosa, E., Houlden, H., Wood, N.W., Schapira, A.H. Analysis of Parkinson’s disease brain-derived DNA for alpha-synuclein coding somatic mutations. Mov Disord. 2014 Jul;29(8):1060-4. doi: 10.1002/mds.25883.
19. Ling, H., Kara, E., Revesz, T., Lees, A.J., Plant, G.T., Martino, D., Houlden, H., Hardy, J., Holton, J.L. 2014. Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. Acta Neuropathol Commun. 2(1), 24. doi:10.1186/2051-5960-2-24.
2013
20. Manzoni, C., Mamais, A., Dihanich, S., McGoldrick, P., Devine, M.J., Zerle, J., Kara, E., Taanman, J.W., Healy, D.G., Marti-Masso, J.F., Schapira, A.H., Plun-Favreau, H., Tooze, S., Hardy, J., Bandopadhyay, R., Lewis, P.A. 2013. Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation. Biochem Biophys Res Commun. doi:10.1016/j.bbrc.2013.10.159.
21. Kara, E., Xiromerisiou, G., Spanaki, C., Bozi, M., Koutsis, G., Panas, M., Dardiotis, E., Ralli, S., Bras, J., Letson, C., Edsall, C., Pliner, H., Arepalli, S., Kalinderi, K., Fidani, L., Bostantjopoulou, S., Keller, M.F., Wood, N.W., Hardy, J., Houlden, H., Stefanis, L., Plaitakis, A., Hernandez, D., Hadjigeorgiou, G.M., Nalls, M.A., Singleton, A.B. 2013. Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging. doi:10.1016/j.neurobiolaging.2013.07.011.
22. Kara, E., Hardy, J., Houlden, H. 2013. The pallidopyramidal syndromes: nosology, aetiology and pathogenesis. Curr Opin Neurol. doi:10.1097/WCO.0b013e3283632e83
23. Ling, H., Kara, E., Bandopadhyay, R., Hardy, J., Holton, J., Xiromerisiou, G., Lees, A., Houlden, H., Revesz, T. 2013. TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. Neurobiol Aging. doi:10.1016/j.neurobiolaging.2013.04.011.
24. Kara, E., Lewis, P.A., Ling, H., Proukakis, C., Houlden, H., Hardy, J. 2013. alpha-Synuclein mutations cluster around a putative protein loop. Neurosci Lett. doi:10.1016/j.neulet.2013.04.058.
25. Kiely, A.P., Asi, Y.T., Kara, E., Limousin, P., Ling, H., Lewis, P., Proukakis, C., Quinn, N., Lees, A.J., Hardy, J., Revesz, T., Houlden, H., Holton, J.L. 2013. alpha-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathol. doi:10.1007/s00401-013-1096-7.
26. Guerreiro, R.*, Kara, E.*, Le Ber*, I., Bras, J., Rohrer, J.D., Taipa, R., Lashley, T., Dupuits, C., Gurunlian, N., Mochel, F., Warren, J.D., Hannequin, D., Sedel, F., Depienne, C., Camuzat, A., Golfier, V., Du Boisgueheneuc, F., Schottlaender, L., Fox, N.C., Beck, J., Mead, S., Rossor, M.N., Hardy, J., Revesz, T., Brice, A., Houlden, H. 2013. Genetic Analysis of Inherited Leukodystrophies: Genotype-Phenotype Correlations in the CSF1R Gene. JAMA Neurol. 70(7), 875-82. doi:10.1001/jamaneurol.2013.698. (*Joint first authors with equal contribution)
27. Xiromerisiou, G., Dardiotis, E., Tsironi, E.E., Hadjigeorgiou, G., Ralli, S., Kara, E., Petalas, A., Tachmitzi, S., Hardy, J., Houlden, H. 2013. THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism Relat Disord. 19(3), 404-5. doi:10.1016/j.parkreldis.2012.08.015.
2012
28. Hersheson, J., Mencacci, N.E., Davis, M., Macdonald, N., Trabzuni, D., Ryten, M., Pittman, A., Paudel, R., Kara, E., Fawcett, K., Plagnol, V., Bhatia, K.P., Medlar, A.J., Stanescu, H.C., Hardy, J., Kleta, R., Wood, N.W., Houlden, H. 2012. Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia. Ann Neurol. doi:10.1002/ana.23832.
29. Haack, T.B., Hogarth, P., Kruer, M.C., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., Cuno, S.M., Harik, S.I., Dandu, V.H., Nardocci, N., Zorzi, G., Dunaway, T., Tarnopolsky, M., Skinner, S., Frucht, S., Hanspal, E., Schrander-Stumpel, C., Heron, D., Mignot, C., Garavaglia, B., Bhatia, K., Hardy, J., Strom, T.M., Boddaert, N., Houlden, H.H., Kurian, M.A., Meitinger, T., Prokisch, H., Hayflick, S.J. 2012. Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA. Am J Hum Genet. 91(6), 1144-9. doi:10.1016/j.ajhg.2012.10.019.
30. Tucci, A.*, Kara, E.*, Schossig, A., Wolf, N.I., Plagnol, V., Fawcett, K., Paisan-Ruiz, C., Moore, M., Hernandez, D., Musumeci, S., Tennison, M., Hennekam, R., Palmeri, S., Malandrini, A., Raskin, S., Donnai, D., Hennig, C., Tzschach, A., Hordijk, R., Bast, T., Wimmer, K., Lo, C.N., Shorvon, S., Mefford, H., Eichler, E.E., Hall, R., Hayes, I., Hardy, J., Singleton, A., Zschocke, J., Houlden, H. 2012. Kohlschutter-Tonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Hum Mutat. doi:10.1002/humu.22241. (*Joint first authors with equal contribution)
31. Everett, C.M., Kara, E., Maresh, K.E., Houlden, H. 2012. Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. J Neurol. 259(12), 2726-8. doi:10.1007/s00415-012-6642-z.
32. Kruer, M.C., Paudel, R., Wagoner, W., Sanford, L., Kara, E., Gregory, A., Foltynie, T., Lees, A., Bhatia, K., Hardy, J., Hayflick, S.J., Houlden, H. 2012. Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neurosci Lett. 523(1), 35-8. doi:10.1016/j.neulet.2012.06.036.
33. Xiromerisiou, G., Houlden, H., Scarmeas, N., Stamelou, M., Kara, E., Hardy, J., Lees, A.J., Korlipara, P., Limousin, P., Paudel, R., Hadjigeorgiou, G.M., Bhatia, K.P. 2012. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 27(10), 1290-4. doi:10.1002/mds.25146.
34. Kara, E.*, Ling, H.*, Pittman, A.M., Shaw, K., de Silva, R., Simone, R., Holton, J.L., Warren, J.D., Rohrer, J.D., Xiromerisiou, G., Lees, A., Hardy, J., Houlden, H., Revesz, T. 2012. The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobiol Aging. 33(9), 2231 e7- e14. doi:10.1016/j.neurobiolaging.2012.04.006. (*Joint first authors with equal contribution)
35. Makedou, K., Iliadis, S., Kara, E., Gogou, M., Feslikidis, T., Papageorgiou, G. 2012. Honey and its protective role against oxidation of human low density lipoproteins and total serum lipoproteins. Hippokratia. 16(3), 287.