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Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
Luo H, Gustavsson EK, Macpherson H, Dominik N, Zhelcheska K, Montgomery K, Anderson C, Yau WY, Efthymiou S, Turner C, DeTure M, Dickson DW, Josephs KA, Revesz T, Lashley T, Halliday G, Rowe DB, McCann E, Blair I, Lees AJ, Tienari PJ, Suomalainen A, Molina-Porcel L, Kovacs GG, Gelpi E, Hardy J, Haltia MJ, Tucci A, Jaunmuktane Z, Ryten M, Houlden H, Chen Z. Luo H, et al. Among authors: ryten m. Acta Neuropathol Commun. 2024 Jan 2;12(1):2. doi: 10.1186/s40478-023-01706-7. Acta Neuropathol Commun. 2024. PMID: 38167323 Free PMC article. No abstract available.
Whole genome expression as a quantitative trait.
Hardy J, Trabzuni D, Ryten M. Hardy J, et al. Among authors: ryten m. Biochem Soc Trans. 2009 Dec;37(Pt 6):1276-7. doi: 10.1042/BST0371276. Biochem Soc Trans. 2009. PMID: 19909261
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: ryten m. 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.
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M; UKBEC; Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H. Tucci A, et al. Among authors: ryten m. J Neurol Neurosurg Psychiatry. 2014 May;85(5):486-92. doi: 10.1136/jnnp-2013-306387. Epub 2013 Nov 6. J Neurol Neurosurg Psychiatry. 2014. PMID: 24198383 Free PMC article.
Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.
Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, Ramasamy A, Vandrovcova J; UK Brain Expression Consortium; Weale ME, Lees AJ, Momeni P, Hardy J, de Silva R. Ferrari R, et al. Among authors: ryten m. Neurobiol Aging. 2014 Jun;35(6):1514.e1-12. doi: 10.1016/j.neurobiolaging.2014.01.010. Epub 2014 Jan 13. Neurobiol Aging. 2014. PMID: 24503276 Free PMC article.
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group; Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H. Chelban V, et al. Among authors: ryten m. Am J Hum Genet. 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009. Am J Hum Genet. 2017. PMID: 28575651 Free PMC article.
222 results