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Page 1
3rd Annual Dysferlin Conference 2-5 June 2009, Boston, Massachusetts, USA.
Albrecht DE, Garg N, Rufibach LE, Williams BA, Monnier N, Hwang E, Mittal P. Albrecht DE, et al. Among authors: rufibach le. Neuromuscul Disord. 2009 Dec;19(12):867-73. doi: 10.1016/j.nmd.2009.08.005. Epub 2009 Sep 24. Neuromuscul Disord. 2009. PMID: 19781937 No abstract available.
4th Annual Dysferlin Conference 11-14 September 2010, Washington, USA.
Albrecht DE, Garg N, Rufibach LE, Williams BA, Monnier N, Hwang E, Mittal P. Albrecht DE, et al. Among authors: rufibach le. Neuromuscul Disord. 2011 Apr;21(4):304-10. doi: 10.1016/j.nmd.2011.02.001. Epub 2011 Feb 19. Neuromuscul Disord. 2011. PMID: 21339068 No abstract available.
5th Annual Dysferlin Conference 11-14 July 2011, Chicago, Illinois, USA.
Albrecht DE, Rufibach LE, Williams BA, Monnier N, Hwang E, Mittal P. Albrecht DE, et al. Among authors: rufibach le. Neuromuscul Disord. 2012 May;22(5):471-7. doi: 10.1016/j.nmd.2011.10.014. Epub 2011 Dec 7. Neuromuscul Disord. 2012. PMID: 22153991 No abstract available.
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
Dominov JA, Uyan Ö, McKenna-Yasek D, Nallamilli BRR, Kergourlay V, Bartoli M, Levy N, Hudson J, Evangelista T, Lochmuller H, Krahn M, Rufibach L, Hegde M, Brown RH Jr. Dominov JA, et al. Ann Clin Transl Neurol. 2019 Mar 3;6(4):642-654. doi: 10.1002/acn3.738. eCollection 2019 Apr. Ann Clin Transl Neurol. 2019. PMID: 31019989 Free PMC article.
6th Dysferlin Conference, 3-6 April 2013, Arlington, Virginia, USA.
Albrecht DE, Rufibach LE, Williams BA, Lee ER, Windish HP, Hwang EY, Shira SR, Mittal P. Albrecht DE, et al. Among authors: rufibach le. Neuromuscul Disord. 2014 Mar;24(3):277-87. doi: 10.1016/j.nmd.2013.11.008. Epub 2013 Nov 23. Neuromuscul Disord. 2014. PMID: 24480524
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium. Diaz-Manera J, et al. Among authors: le fur y, rufibach l. J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7. J Neurol Neurosurg Psychiatry. 2018. PMID: 29735511 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
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium. Harris E, et al. Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug. Neurol Genet. 2016. PMID: 27602406 Free PMC article.
28 results