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Page 1
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
Wiethoff S, Bettencourt C, Paudel R, Madon P, Liu YT, Hersheson J, Wadia N, Desai J, Houlden H. Wiethoff S, et al. Among authors: paudel r. Cerebellum. 2017 Feb;16(1):262-267. doi: 10.1007/s12311-016-0769-x. Cerebellum. 2017. PMID: 26995604 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.
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.
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.
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 TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. Landouré G, et al. Among authors: paudel r. Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037586 Free PMC article.
C19orf12 mutation leads to a pallido-pyramidal syndrome.
Kruer MC, Salih MA, Mooney C, Alzahrani J, Elmalik SA, Kabiraj MM, Khan AO, Paudel R, Houlden H, Azzedine H, Alkuraya F. Kruer MC, et al. Among authors: paudel r. Gene. 2014 Mar 10;537(2):352-6. doi: 10.1016/j.gene.2013.11.039. Epub 2013 Dec 17. Gene. 2014. PMID: 24361204 Free PMC article.
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.
224 results