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127 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: barresi r. 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
New aspects on patients affected by dysferlin deficient muscular dystrophy.
Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmüller H, Bushby K. Klinge L, et al. Among authors: barresi r. J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):946-53. doi: 10.1136/jnnp.2009.178038. Epub 2009 Jun 14. J Neurol Neurosurg Psychiatry. 2010. PMID: 19528035 Free PMC article.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A. Pfeffer G, et al. Among authors: barresi r. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13. J Neurol Neurosurg Psychiatry. 2014. PMID: 23486992 Free PMC article.
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: barresi r. 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.
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K. Hicks D, et al. Among authors: barresi r. Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294. Brain. 2011. PMID: 21186264 Free PMC article.
Muscular dystrophy in dysferlin-deficient mouse models.
Hornsey MA, Laval SH, Barresi R, Lochmüller H, Bushby K. Hornsey MA, et al. Among authors: barresi r. Neuromuscul Disord. 2013 May;23(5):377-87. doi: 10.1016/j.nmd.2013.02.004. Epub 2013 Mar 7. Neuromuscul Disord. 2013. PMID: 23473732 Review.
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: barresi r. Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12. Hum Mutat. 2013. PMID: 23606453
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.
Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. Anthony K, et al. Among authors: barresi r. JAMA Neurol. 2014 Jan;71(1):32-40. doi: 10.1001/jamaneurol.2013.4908. JAMA Neurol. 2014. PMID: 24217213 Free article. Clinical Trial.
127 results