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Page 1
Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis.
Lilleker JB, Rietveld A, Pye SR, Mariampillai K, Benveniste O, Peeters MT, Miller JA, Hanna MG, Machado PM, Parton MJ, Gheorghe KR, Badrising UA, Lundberg IE, Sacconi S, Herbert MK, McHugh NJ, Lecky BR, Brierley C, Hilton-Jones D, Lamb JA, Roberts ME, Cooper RG, Saris CG, Pruijn GJ, Chinoy H, van Engelen BG; all UKMYONET contributors. Lilleker JB, et al. Among authors: roberts me. Ann Rheum Dis. 2017 May;76(5):862-868. doi: 10.1136/annrheumdis-2016-210282. Epub 2017 Jan 25. Ann Rheum Dis. 2017. PMID: 28122761 Free PMC article.
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW. Fratter C, et al. Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f. Neurology. 2010. PMID: 20479361 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. Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12. Hum Mutat. 2013. PMID: 23606453
Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases.
Herbert MK, Stammen-Vogelzangs J, Verbeek MM, Rietveld A, Lundberg IE, Chinoy H, Lamb JA, Cooper RG, Roberts M, Badrising UA, De Bleecker JL, Machado PM, Hanna MG, Plestilova L, Vencovsky J, van Engelen BG, Pruijn GJ. Herbert MK, et al. Ann Rheum Dis. 2016 Apr;75(4):696-701. doi: 10.1136/annrheumdis-2014-206691. Epub 2015 Feb 24. Ann Rheum Dis. 2016. PMID: 25714931 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.
Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum.
Rothwell S, Cooper RG, Lundberg IE, Gregersen PK, Hanna MG, Machado PM, Herbert MK, Pruijn GJM, Lilleker JB, Roberts M, Bowes J, Seldin MF, Vencovsky J, Danko K, Limaye V, Selva-O'Callaghan A, Platt H, Molberg Ø, Benveniste O, Radstake TRDJ, Doria A, De Bleecker J, De Paepe B, Gieger C, Meitinger T, Winkelmann J, Amos CI, Ollier WE, Padyukov L, Lee AT, Lamb JA, Chinoy H; Myositis Genetics Consortium. Rothwell S, et al. Arthritis Rheumatol. 2017 May;69(5):1090-1099. doi: 10.1002/art.40045. Epub 2017 Apr 4. Arthritis Rheumatol. 2017. PMID: 28086002 Free PMC article.
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.
Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T. Morís G, et al. Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7. Muscle Nerve. 2018. PMID: 29053898 Free PMC article.
294 results