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Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. Sommerville EW, et al. Among authors: petty rk. JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. JAMA Neurol. 2017. PMID: 28395030 Free PMC article.
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Belaya K, Rodríguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, Petty R, Walls TJ, Sedghi M, Basiri K, Yue WW, Sarkozy A, Bertoli M, Pitt M, Kennett R, Schaefer A, Bushby K, Parton M, Lochmüller H, Palace J, Muntoni F, Beeson D. Belaya K, et al. Brain. 2015 Sep;138(Pt 9):2493-504. doi: 10.1093/brain/awv185. Epub 2015 Jun 30. Brain. 2015. PMID: 26133662 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.
Muscle fibrillin deficiency in Marfan's syndrome myopathy.
Behan WM, Longman C, Petty RK, Comeglio P, Child AH, Boxer M, Foskett P, Harriman DG. Behan WM, et al. Among authors: petty rk. J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8. doi: 10.1136/jnnp.74.5.633. J Neurol Neurosurg Psychiatry. 2003. PMID: 12700307 Free PMC article.
Evaluating muscle symptoms.
Petty R. Petty R. J Neurol Neurosurg Psychiatry. 2003 Jun;74 Suppl 2(Suppl 2):ii38-ii42. doi: 10.1136/jnnp.74.suppl_2.ii38. J Neurol Neurosurg Psychiatry. 2003. PMID: 12754328 Free PMC article. No abstract available.
Brainstem encephalitis and the Miller Fisher syndrome.
Petty RK, Duncan R, Jamal GA, Hadley D, Kennedy PG. Petty RK, et al. J Neurol Neurosurg Psychiatry. 1993 Feb;56(2):201-3. doi: 10.1136/jnnp.56.2.201. J Neurol Neurosurg Psychiatry. 1993. PMID: 8382270 Free PMC article.
49 results