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Page 1
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: paudel r. 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.
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. Houlden H, et al. Among authors: paudel r. Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d. Neurology. 2010. PMID: 20211909 Free PMC article.
DYT6 Dystonia: A Neuropathological Study.
Paudel R, Li A, Hardy J, Bhatia KP, Houlden H, Holton J. Paudel R, et al. Neurodegener Dis. 2016;16(3-4):273-8. doi: 10.1159/000440863. Epub 2015 Nov 27. Neurodegener Dis. 2016. PMID: 26610312 Free PMC article.
Review: genetics and neuropathology of primary pure dystonia.
Paudel R, Hardy J, Revesz T, Holton JL, Houlden H. Paudel R, et al. Neuropathol Appl Neurobiol. 2012 Oct;38(6):520-34. doi: 10.1111/j.1365-2990.2012.01298.x. Neuropathol Appl Neurobiol. 2012. PMID: 22897341 Review.
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. Neumann J, et al. Among authors: paudel r. Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13. Brain. 2009. PMID: 19286695 Free PMC article.
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: paudel r. 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.
Pantothenate kinase-associated neurodegeneration is not a synucleinopathy.
Li A, Paudel R, Johnson R, Courtney R, Lees AJ, Holton JL, Hardy J, Revesz T, Houlden H. Li A, et al. Among authors: paudel r. Neuropathol Appl Neurobiol. 2013 Feb;39(2):121-31. doi: 10.1111/j.1365-2990.2012.01269.x. Neuropathol Appl Neurobiol. 2013. PMID: 22416811 Free PMC article.
222 results