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Year Number of Results
2006 1
2012 2
2013 2
2014 8
2015 7
2016 2
2017 1
2018 1
2019 1
2024 0

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22 results

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Page 1
Syndromic associations and RNF216 mutations.
Ganos C, Hersheson J, Adams M, Bhatia KP, Houlden H. Ganos C, et al. Among authors: hersheson j. Parkinsonism Relat Disord. 2015 Nov;21(11):1389-90. doi: 10.1016/j.parkreldis.2015.09.010. Epub 2015 Sep 4. Parkinsonism Relat Disord. 2015. PMID: 26421393 No abstract available.
The 4H syndrome due to RNF216 mutation.
Ganos C, Hersheson J, Adams M, Bhatia KP, Houlden H. Ganos C, et al. Among authors: hersheson j. Parkinsonism Relat Disord. 2015 Sep;21(9):1122-3. doi: 10.1016/j.parkreldis.2015.07.012. Epub 2015 Jul 18. Parkinsonism Relat Disord. 2015. PMID: 26250479 No abstract available.
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H. Chelban V, et al. Among authors: hersheson j. Mov Disord. 2018 Jul;33(7):1119-1129. doi: 10.1002/mds.27334. Epub 2018 Mar 30. Mov Disord. 2018. PMID: 29603387 Free PMC article.
Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.
Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H. Hersheson J, et al. Neurology. 2014 Nov 11;83(20):1873-5. doi: 10.1212/WNL.0000000000000981. Epub 2014 Oct 8. Neurology. 2014. PMID: 25298308 Free PMC article. No abstract available.
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: hersheson j. Cerebellum. 2017 Feb;16(1):262-267. doi: 10.1007/s12311-016-0769-x. Cerebellum. 2017. PMID: 26995604 Free PMC article.
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Hufnagel RB, et al. Among authors: hersheson j. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5. J Med Genet. 2015. PMID: 25480986 Free PMC article.
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium. Mencacci NE, et al. Among authors: hersheson j. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 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. 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.
Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.
Bettencourt C, Ryten M, Forabosco P, Schorge S, Hersheson J, Hardy J, Houlden H; United Kingdom Brain Expression Consortium. Bettencourt C, et al. Among authors: hersheson j. JAMA Neurol. 2014 Jul 1;71(7):831-9. doi: 10.1001/jamaneurol.2014.756. JAMA Neurol. 2014. PMID: 24862029 Free PMC article. Clinical Trial.
22 results