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207 results

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Page 1
Mutational analysis of parkin and PINK1 in multiple system atrophy.
Brooks JA, Houlden H, Melchers A, Islam AJ, Ding J, Li A, Paudel R, Revesz T, Holton JL, Wood N, Lees A, Singleton AB, Scholz SW. Brooks JA, et al. Among authors: paudel r. Neurobiol Aging. 2011 Mar;32(3):548.e5-7. doi: 10.1016/j.neurobiolaging.2009.11.020. Epub 2010 Jan 19. Neurobiol Aging. 2011. PMID: 20034704 Free PMC article.
SNCA variants are associated with increased risk for multiple system atrophy.
Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T. Scholz SW, et al. Among authors: paudel r. Ann Neurol. 2009 May;65(5):610-4. doi: 10.1002/ana.21685. Ann Neurol. 2009. PMID: 19475667 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.
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.
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.
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.
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.
207 results