المؤلفون: Oates, EC, Jones, KJ, Donkervoort, S, Charlton, A, Brammah, S, Smith, JE, 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, Toepf, 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, H-M, Thomas, NH, Foulds, NC, Illingworth, MA, Ellard, S, McLean, CA, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Richard, I, Cooper, ST, Kamsteeg, E-J, Hoffman, EP, Bushby, K, Straub, V, Udd, B, Ferreiro, A, North, KN, Clarke, NF, Lek, M, Beggs, AH, Boennemann, CG, MacArthur, DG, Granzier, H, Davis, MR, Laing, NG

Relation: Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B. ,. Laing, N. G. (2018). Congenital Titinopathy: Comprehensive characterization and pathogenic insights. ANNALS OF NEUROLOGY, 83 (6), pp.1105-1124. https://doi.org/10.1002/ana.25241.; http://hdl.handle.net/11343/254896

الاتاحة: http://hdl.handle.net/11343/254896

المؤلفون: Illingworth, MA, Carr, LJ, Kurian, MA, Meyer, E, Chong, WK, Manzur, AY, Younis, R, Hardy, C, McDonald, F, Childs, AM, Stewart, B, Warren, D, Kneen, R, King, MD, Hayflick, SJ

المصدر: Molecular Genetics and Metabolism , 112 (2) 183 - 189. (2014)

مصطلحات موضوعية: Neurodegeneration with brain iron accumulation, NBIA, PLA2G6, INAD, PLAN

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/1433090/1/1-s2.0-S1096719214000961-main.pdf; https://discovery.ucl.ac.uk/id/eprint/1433090/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1433090/1/1-s2.0-S1096719214000961-main.pdf
https://discovery.ucl.ac.uk/id/eprint/1433090/

المؤلفون: Illingworth MA (AUTHOR), Hanrahan D (AUTHOR), Anderson CE (AUTHOR), O'Kane K (AUTHOR), Anderson J (AUTHOR), Casey M (AUTHOR), de Sousa C (AUTHOR), Cross JH (AUTHOR), Wright S (AUTHOR), Dale RC (AUTHOR), Vincent A (AUTHOR), Kurian MA (AUTHOR)

المصدر: Developmental Medicine & Child Neurology. Nov2011, Vol. 53 Issue 11, p1053-1057. 5p.