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Page 1
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: ryan mm. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN. Ilkovski B, et al. Among authors: ryan mm. Am J Hum Genet. 2001 Jun;68(6):1333-43. doi: 10.1086/320605. Epub 2001 Apr 27. Am J Hum Genet. 2001. PMID: 11333380 Free PMC article.
Nemaline myopathy: a clinical study of 143 cases.
Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN. Ryan MM, et al. Ann Neurol. 2001 Sep;50(3):312-20. doi: 10.1002/ana.1080. Ann Neurol. 2001. PMID: 11558787 Review.
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
Ryan MM, Ilkovski B, Strickland CD, Schnell C, Sanoudou D, Midgett C, Houston R, Muirhead D, Dennett X, Shield LK, De Girolami U, Iannaccone ST, Laing NG, North KN, Beggs AH. Ryan MM, et al. Neurology. 2003 Feb 25;60(4):665-73. doi: 10.1212/01.wnl.0000046585.81304.bc. Neurology. 2003. PMID: 12601110
Juvenile Huntington disease.
Geevasinga N, Richards FH, Jones KJ, Ryan MM. Geevasinga N, et al. Among authors: ryan mm. J Paediatr Child Health. 2006 Sep;42(9):552-4. doi: 10.1111/j.1440-1754.2006.00921.x. J Paediatr Child Health. 2006. PMID: 16925544
Outcome of noninvasive ventilation in children with neuromuscular disease.
Young HK, Lowe A, Fitzgerald DA, Seton C, Waters KA, Kenny E, Hynan LS, Iannaccone ST, North KN, Ryan MM. Young HK, et al. Among authors: ryan mm. Neurology. 2007 Jan 16;68(3):198-201. doi: 10.1212/01.wnl.0000251299.54608.13. Neurology. 2007. PMID: 17224573 Clinical Trial.
Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2).
Barth PG, Ryan MM, Webster RI, Aronica E, Kan A, Ramkema M, Jardine P, Poll-The BT. Barth PG, et al. Among authors: ryan mm. Neuromuscul Disord. 2008 Jan;18(1):52-8. doi: 10.1016/j.nmd.2007.08.001. Epub 2007 Sep 6. Neuromuscul Disord. 2008. PMID: 17825555
297 results