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Page 1
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Bugiardini E, Khan AM, Phadke R, Lynch DS, Cortese A, Feng L, Gang Q, Pittman AM, Morrow JM, Turner C, Carr AS, Quinlivan R, Rossor AM, Holton JL, Parton M, Blake JC, Reilly MM, Houlden H, Matthews E, Hanna MG. Bugiardini E, et al. Among authors: parton m. Neuromuscul Disord. 2019 Oct;29(10):747-757. doi: 10.1016/j.nmd.2019.08.003. Epub 2019 Aug 19. Neuromuscul Disord. 2019. PMID: 31561939
A case of necrotizing myopathy with proximal weakness and cardiomyopathy.
Matthews E, Plotz PH, Portaro S, Parton M, Elliott P, Humbel RL, Holton JL, Keegan BM, Hanna MG. Matthews E, et al. Among authors: parton m. Neurology. 2012 May 8;78(19):1527-32. doi: 10.1212/WNL.0b013e3182553baa. Neurology. 2012. PMID: 22565568 No abstract available.
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: parton m. Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12. Hum Mutat. 2013. PMID: 23606453
A practical approach to diagnosing adult onset leukodystrophies.
Ahmed RM, Murphy E, Davagnanam I, Parton M, Schott JM, Mummery CJ, Rohrer JD, Lachmann RH, Houlden H, Fox NC, Chataway J. Ahmed RM, et al. Among authors: parton m. J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):770-81. doi: 10.1136/jnnp-2013-305888. Epub 2013 Dec 19. J Neurol Neurosurg Psychiatry. 2014. PMID: 24357685 No abstract available.
Ongoing developments in sporadic inclusion body myositis.
Machado PM, Ahmed M, Brady S, Gang Q, Healy E, Morrow JM, Wallace AC, Dewar L, Ramdharry G, Parton M, Holton JL, Houlden H, Greensmith L, Hanna MG. Machado PM, et al. Among authors: parton m. Curr Rheumatol Rep. 2014 Dec;16(12):477. doi: 10.1007/s11926-014-0477-9. Curr Rheumatol Rep. 2014. PMID: 25399751 Free PMC article. Review.
The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.
Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium(#). Gang Q, et al. Among authors: parton m. Neurobiol Aging. 2015 Apr;36(4):1766.e1-1766.e3. doi: 10.1016/j.neurobiolaging.2014.12.039. Epub 2015 Jan 14. Neurobiol Aging. 2015. PMID: 25670332 Free PMC article.
106 results