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Page 1
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: healy eg. 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.
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. 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.
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. 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. 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.
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.
Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium. Gang Q, et al. Neurobiol Aging. 2016 Nov;47:218.e1-218.e9. doi: 10.1016/j.neurobiolaging.2016.07.024. Epub 2016 Aug 8. Neurobiol Aging. 2016. PMID: 27594680 Free PMC article.
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Matthews E, Neuwirth C, Jaffer F, Scalco RS, Fialho D, Parton M, Raja Rayan D, Suetterlin K, Sud R, Spiegel R, Mein R, Houlden H, Schaefer A, Healy E, Palace J, Quinlivan R, Treves S, Holton JL, Jungbluth H, Hanna MG. Matthews E, et al. Neurology. 2018 Jan 30;90(5):e412-e418. doi: 10.1212/WNL.0000000000004894. Epub 2018 Jan 3. Neurology. 2018. PMID: 29298851 Free PMC article.
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
Corrochano S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amior N, Dick J, Healy EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, Cox R, Brown SD, Tucci V, Wackerhage H, Amato AA, Greensmith L, Koltzenburg M, Hanna MG, Acevedo-Arozena A. Corrochano S, et al. Among authors: healy eg. Brain. 2014 Dec;137(Pt 12):3171-85. doi: 10.1093/brain/awu292. Epub 2014 Oct 27. Brain. 2014. PMID: 25348630 Free PMC article.
BAG3 mutations: another cause of giant axonal neuropathy.
Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM. Jaffer F, et al. J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x. J Peripher Nerv Syst. 2012. PMID: 22734908
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