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Paraspinal and scapular myopathy associated with scleroderma.
Rojana-Udomsart A, Fabian V, Hollingsworth PN, Walters SE, Zilko PJ, Mastaglia FL. Rojana-Udomsart A, et al. Among authors: fabian v. J Clin Neuromuscul Dis. 2010 Jun;11(4):213-22. doi: 10.1097/CND.0b013e3181c139f6. J Clin Neuromuscul Dis. 2010. PMID: 20516811
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).
Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Meredith C, et al. Among authors: fabian v. Am J Hum Genet. 2004 Oct;75(4):703-8. doi: 10.1086/424760. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322983 Free PMC article.
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG. Sambuughin N, et al. Among authors: fabian v. Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109227 Free PMC article.
Herpes zoster brachial plexus neuritis.
Fabian VA, Wood B, Crowley P, Kakulas BA. Fabian VA, et al. Clin Neuropathol. 1997 Mar-Apr;16(2):61-4. Clin Neuropathol. 1997. PMID: 9101105
65 results