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Page 1
Clinical features of hereditary spastic paraplegia due to spastin mutation.
McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, Sharrack B, Hadjivassiliou M, Chinnery PF, Dalton A, Shaw PJ; UK and Irish HSP Consortium. McDermott CJ, et al. Among authors: hewamadduma c. Neurology. 2006 Jul 11;67(1):45-51. doi: 10.1212/01.wnl.0000223315.62404.00. Neurology. 2006. PMID: 16832076
Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.
Highley JR, Kirby J, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J, McDermott CJ, Wharton SB, Shaw PJ, Ince PG. Highley JR, et al. Neuropathol Appl Neurobiol. 2014 Oct;40(6):670-85. doi: 10.1111/nan.12148. Neuropathol Appl Neurobiol. 2014. PMID: 24750229
Chronic idiopathic axonal polyneuropathy: a systematic review.
Zis P, Sarrigiannis PG, Rao DG, Hewamadduma C, Hadjivassiliou M. Zis P, et al. Among authors: hewamadduma c. J Neurol. 2016 Oct;263(10):1903-10. doi: 10.1007/s00415-016-8082-7. Epub 2016 Mar 9. J Neurol. 2016. PMID: 26961897 Review.
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Hewamadduma CA, Hoggard N, O'Malley R, Robinson MK, Beauchamp NJ, Segamogaite R, Martindale J, Rodgers T, Rao G, Sarrigiannis P, Shanmugarajah P, Zis P, Sharrack B, McDermott CJ, Shaw PJ, Hadjivassiliou M. Hewamadduma CA, et al. Neurol Genet. 2018 Oct 24;4(6):e279. doi: 10.1212/NXG.0000000000000279. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30533525 Free PMC article.
Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.
Shepheard SR, Parker MD, Cooper-Knock J, Verber NS, Tuddenham L, Heath P, Beauchamp N, Place E, Sollars ESA, Turner MR, Malaspina A, Fratta P, Hewamadduma C, Jenkins TM, McDermott CJ, Wang D, Kirby J, Shaw PJ; Project MINE Consortium; Project MinE. Shepheard SR, et al. Among authors: hewamadduma c. J Neurol Neurosurg Psychiatry. 2021 May;92(5):510-518. doi: 10.1136/jnnp-2020-325014. Epub 2021 Feb 14. J Neurol Neurosurg Psychiatry. 2021. PMID: 33589474 Free PMC article.
Rapid identification of human muscle disease with fibre optic Raman spectroscopy.
Alix JJP, Plesia M, Lloyd GR, Dudgeon AP, Kendall CA, Hewamadduma C, Hadjivassiliou M, McDermott CJ, Gorman GS, Taylor RW, Shaw PJ, Day JCC. Alix JJP, et al. Among authors: hewamadduma c. Analyst. 2022 May 30;147(11):2533-2540. doi: 10.1039/d1an01932e. Analyst. 2022. PMID: 35545877 Free PMC article.
31 results