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Page 1
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. Among authors: hewamadduma ca. Neuropathol Appl Neurobiol. 2014 Oct;40(6):670-85. doi: 10.1111/nan.12148. Neuropathol Appl Neurobiol. 2014. PMID: 24750229
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. Neurology. 2006 Jul 11;67(1):45-51. doi: 10.1212/01.wnl.0000223315.62404.00. Neurology. 2006. PMID: 16832076
Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial.
UKMND-LiCALS Study Group; Morrison KE, Dhariwal S, Hornabrook R, Savage L, Burn DJ, Khoo TK, Kelly J, Murphy CL, Al-Chalabi A, Dougherty A, Leigh PN, Wijesekera L, Thornhill M, Ellis CM, O'Hanlon K, Panicker J, Pate L, Ray P, Wyatt L, Young CA, Copeland L, Ealing J, Hamdalla H, Leroi I, Murphy C, O'Keeffe F, Oughton E, Partington L, Paterson P, Rog D, Sathish A, Sexton D, Smith J, Vanek H, Dodds S, Williams TL, Steen IN, Clarke J, Eziefula C, Howard R, Orrell R, Sidle K, Sylvester R, Barrett W, Merritt C, Talbot K, Turner MR, Whatley C, Williams C, Williams J, Cosby C, Hanemann CO, Iman I, Philips C, Timings L, Crawford SE, Hewamadduma C, Hibberd R, Hollinger H, McDermott C, Mils G, Rafiq M, Shaw PJ, Taylor A, Waines E, Walsh T, Addison-Jones R, Birt J, Hare M, Majid T. UKMND-LiCALS Study Group, et al. Among authors: hewamadduma c. Lancet Neurol. 2013 Apr;12(4):339-45. doi: 10.1016/S1474-4422(13)70037-1. Epub 2013 Feb 27. Lancet Neurol. 2013. PMID: 23453347 Free PMC article. Clinical Trial.
Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.
van Eijk RPA, Jones AR, Sproviero W, Shatunov A, Shaw PJ, Leigh PN, Young CA, Shaw CE, Mora G, Mandrioli J, Borghero G, Volanti P, Diekstra FP, van Rheenen W, Verstraete E, Eijkemans MJC, Veldink JH, Chio A, Al-Chalabi A, van den Berg LH, van Es MA; For UKMND-LiCALS and LITALS Study Group. van Eijk RPA, et al. Neurology. 2017 Oct 31;89(18):1915-1922. doi: 10.1212/WNL.0000000000004606. Epub 2017 Oct 4. Neurology. 2017. PMID: 28978660 Free PMC article. 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. 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.
28 results