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Page 1
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Pfeffer G, et al. Among authors: mcconville j. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 Free PMC article.
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmüller H. Chaouch A, et al. Among authors: mcconville j. J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1359-65. doi: 10.1136/jnnp-2013-306314. Epub 2014 Apr 2. J Neurol Neurosurg Psychiatry. 2014. PMID: 24695763 Free PMC article.
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H. Sarkozy A, et al. Among authors: mcconville j. Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12. Hum Mutat. 2013. PMID: 23606453
The use of rituximab in myasthenia gravis and Lambert-Eaton myasthenic syndrome.
Maddison P, McConville J, Farrugia ME, Davies N, Rose M, Norwood F, Jungbluth H, Robb S, Hilton-Jones D. Maddison P, et al. Among authors: mcconville j. J Neurol Neurosurg Psychiatry. 2011 Jun;82(6):671-3. doi: 10.1136/jnnp.2009.197632. Epub 2010 Apr 14. J Neurol Neurosurg Psychiatry. 2011. PMID: 20392977
Trends in acoustic neuroma and cellular phones: is there a link?
Nelson PD, Toledano MB, McConville J, Quinn MJ, Cooper N, Elliott P. Nelson PD, et al. Among authors: mcconville j. Neurology. 2006 Jan 24;66(2):284-5. doi: 10.1212/01.wnl.0000194218.79519.ea. Neurology. 2006. PMID: 16434678 No abstract available.
Genetic defects are common in myopathies with tubular aggregates.
Gang Q, Bettencourt C, Brady S, Holton JL, Healy EG, McConville J, Morrison PJ, Ripolone M, Violano R, Sciacco M, Moggio M, Mora M, Mantegazza R, Zanotti S, Wang Z, Yuan Y, Liu WW, Beeson D, Hanna M, Houlden H. Gang Q, et al. Among authors: mcconville j. Ann Clin Transl Neurol. 2022 Jan;9(1):4-15. doi: 10.1002/acn3.51477. Epub 2021 Dec 15. Ann Clin Transl Neurol. 2022. PMID: 34908252 Free PMC article.
Seronegative myasthenia gravis.
Vincent A, McConville J, Farrugia ME, Newsom-Davis J. Vincent A, et al. Among authors: mcconville j. Semin Neurol. 2004 Mar;24(1):125-33. doi: 10.1055/s-2004-829589. Semin Neurol. 2004. PMID: 15229799 Review.
Antibodies in myasthenia gravis and related disorders.
Vincent A, McConville J, Farrugia ME, Bowen J, Plested P, Tang T, Evoli A, Matthews I, Sims G, Dalton P, Jacobson L, Polizzi A, Blaes F, Lang B, Beeson D, Willcox N, Newsom-Davis J, Hoch W. Vincent A, et al. Among authors: mcconville j. Ann N Y Acad Sci. 2003 Sep;998:324-35. doi: 10.1196/annals.1254.036. Ann N Y Acad Sci. 2003. PMID: 14592891 Review.
205 results