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Page 1
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: hewamadduma c. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 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.
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
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.
Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) - Therapy Guidelines.
Narayan S, Pietrusz A, Allen J, DiMarco M, Docherty K, Emery N, Ennis M, Flesher R, Foo W, Freebody J, Gallagher E, Grose N, Harris D, Hewamadduma C, Holmes S, James MK, Maidment L, Mayhew A, Moat D, Moorcroft N, Muni-Lofra R, Nevin K, Quinlivan R, Slimming J, Sodhi J, Stuart D, Julien Y; ANSN. Narayan S, et al. Among authors: hewamadduma c. J Neuromuscul Dis. 2022;9(3):365-381. doi: 10.3233/JND-210707. J Neuromuscul Dis. 2022. PMID: 35124658 No abstract available.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study.
Howard JF Jr, Bresch S, Genge A, Hewamadduma C, Hinton J, Hussain Y, Juntas-Morales R, Kaminski HJ, Maniaol A, Mantegazza R, Masuda M, Sivakumar K, Śmiłowski M, Utsugisawa K, Vu T, Weiss MD, Zajda M, Boroojerdi B, Brock M, de la Borderie G, Duda PW, Lowcock R, Vanderkelen M, Leite MI; RAISE Study Team. Howard JF Jr, et al. Among authors: hewamadduma c. Lancet Neurol. 2023 May;22(5):395-406. doi: 10.1016/S1474-4422(23)00080-7. Lancet Neurol. 2023. PMID: 37059508 Clinical Trial.
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.
Cognitive behavioural therapy for adults with dissociative seizures (CODES): a pragmatic, multicentre, randomised controlled trial.
Goldstein LH, Robinson EJ, Mellers JDC, Stone J, Carson A, Reuber M, Medford N, McCrone P, Murray J, Richardson MP, Pilecka I, Eastwood C, Moore M, Mosweu I, Perdue I, Landau S, Chalder T; CODES study group. Goldstein LH, et al. Lancet Psychiatry. 2020 Jun;7(6):491-505. doi: 10.1016/S2215-0366(20)30128-0. Epub 2020 May 20. Lancet Psychiatry. 2020. PMID: 32445688 Free PMC article. Clinical Trial.
29 results