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A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.
Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, Quinn N, Hardy J, Holton JL, Houlden H. Kara E, et al. JAMA Neurol. 2014 Sep;71(9):1162-71. doi: 10.1001/jamaneurol.2014.994. JAMA Neurol. 2014. PMID: 25003242 Free PMC article.
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.
Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, Golfier V, Du Boisguéheneuc F, Schottlaender L, Fox NC, Beck J, Mead S, Rossor MN, Hardy J, Revesz T, Brice A, Houlden H. Guerreiro R, et al. Among authors: kara e. JAMA Neurol. 2013 Jul;70(7):875-882. doi: 10.1001/jamaneurol.2013.698. JAMA Neurol. 2013. PMID: 23649896 Free PMC article.
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.
Kiely AP, Ling H, Asi YT, Kara E, Proukakis C, Schapira AH, Morris HR, Roberts HC, Lubbe S, Limousin P, Lewis PA, Lees AJ, Quinn N, Hardy J, Love S, Revesz T, Houlden H, Holton JL. Kiely AP, et al. Among authors: kara e. Mol Neurodegener. 2015 Aug 27;10:41. doi: 10.1186/s13024-015-0038-3. Mol Neurodegener. 2015. PMID: 26306801 Free PMC article.
THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.
Xiromerisiou G, Houlden H, Scarmeas N, Stamelou M, Kara E, Hardy J, Lees AJ, Korlipara P, Limousin P, Paudel R, Hadjigeorgiou GM, Bhatia KP. Xiromerisiou G, et al. Among authors: kara e. Mov Disord. 2012 Sep 1;27(10):1290-4. doi: 10.1002/mds.25146. Epub 2012 Aug 17. Mov Disord. 2012. PMID: 22903657 Free PMC article. Review.
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H. Hersheson J, et al. Among authors: kara e. Ann Neurol. 2013 Apr;73(4):546-53. doi: 10.1002/ana.23832. Epub 2013 Feb 19. Ann Neurol. 2013. PMID: 23424103 Free PMC article.
α-Synuclein mutations cluster around a putative protein loop.
Kara E, Lewis PA, Ling H, Proukakis C, Houlden H, Hardy J. Kara E, et al. Neurosci Lett. 2013 Jun 24;546:67-70. doi: 10.1016/j.neulet.2013.04.058. Epub 2013 May 10. Neurosci Lett. 2013. PMID: 23669636 Free PMC article.
419 results