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102 results

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Page 1
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F. Sarkozy A, et al. Among authors: parton m. J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3. J Neurol Neurosurg Psychiatry. 2018. PMID: 29437916
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 multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.
Graham CD, Weinman J, Sadjadi R, Chalder T, Petty R, Hanna MG, Turner C, Parton M, Maddison P, Radunovic A, Longman C, Robb Y, Bushby K, Hilton-Jones D, Rose MR. Graham CD, et al. Among authors: parton m. Clin Rehabil. 2014 May;28(5):508-19. doi: 10.1177/0269215513511340. Epub 2013 Nov 15. Clin Rehabil. 2014. PMID: 24240060
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.
Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T. Figueroa-Bonaparte S, et al. Among authors: parton mj. J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):680-1. doi: 10.1136/jnnp-2015-310362. Epub 2015 Jun 23. J Neurol Neurosurg Psychiatry. 2016. PMID: 26105173 Free PMC article. No abstract available.
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. Among authors: parton m. Brain. 2015 Sep;138(Pt 9):2493-504. doi: 10.1093/brain/awv185. Epub 2015 Jun 30. Brain. 2015. PMID: 26133662 Free PMC article.
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Rodríguez Cruz PM, Belaya K, Basiri K, Sedghi M, Farrugia ME, Holton JL, Liu WW, Maxwell S, Petty R, Walls TJ, Kennett R, Pitt M, Sarkozy A, Parton M, Lochmüller H, Muntoni F, Palace J, Beeson D. Rodríguez Cruz PM, et al. Among authors: parton m. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):802-9. doi: 10.1136/jnnp-2016-313163. Epub 2016 May 4. J Neurol Neurosurg Psychiatry. 2016. PMID: 27147698 Free PMC article.
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.
Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R. Scalco RS, et al. Among authors: parton m. Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11. Neuromuscul Disord. 2016. PMID: 27312022 Free article.
102 results