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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: fitzsimons rb. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Visual disturbances and weight gain.
Sharma S, Granot R, Thomas N, Wilcsek GA, White C, Fitzsimons R, Tidmarsh J, Tuch BE. Sharma S, et al. Postgrad Med J. 2001 Nov;77(913):732-3, 736-7. doi: 10.1136/pmj.77.913.732. Postgrad Med J. 2001. PMID: 11677286 Free PMC article. No abstract available.
Carcinoma of the thyroid gland and Gardner's syndrome.
Kelly MD, Hugh TB, Field AS, Fitzsimons R. Kelly MD, et al. Aust N Z J Surg. 1993 Jun;63(6):505-9. doi: 10.1111/j.1445-2197.1993.tb00439.x. Aust N Z J Surg. 1993. PMID: 8498926 Review.
Facioscapulohumeral muscular dystrophy.
Fitzsimons RB. Fitzsimons RB. Curr Opin Neurol. 1999 Oct;12(5):501-11. doi: 10.1097/00019052-199910000-00003. Curr Opin Neurol. 1999. PMID: 10590886 Review.
44 results