Výsledky vyhledávání - "Peduto, Anthony J"

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Autor: Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha-Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.

Publikováno v: Annals of Neurology, 83, 6, pp. 1105-1124
Annals of Neurology, 83, 1105-1124
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, Corbett, A J, Ryan, M M, O'Grady, G L, Sandaradura, S A, Ghaoui, R, Joshi, H, Marshall, J L, Nolan, M A, Kaur, S, Punetha, J, Töpf, A, Harris, E, Bakshi, M, Genetti, C A, Marttila, M, Werlauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, J R, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, M E, Foley, A R, Bharucha-Goebel, D, Collins, J, Connolly, A M, Gilbreath, H R, Iannaccone, S T, Castro, D, Cummings, B B, Webster, R I, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H M, Thomas, N H, Foulds, N C, Illingworth, M A, Ellard, S, McLean, C A, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Richard, I, Cooper, S T, Kamsteeg, E J, Hoffman, E P, Bushby, K, Straub, V, Udd, B, Ferreiro, A, North, K N, Clarke, N F, Lek, M, Beggs, A H, Bönnemann, C G, MacArthur, D G, Granzier, H, Davis, M R & Laing, N G 2018, ' Congenital Titinopathy : Comprehensive characterization and pathogenic insights ', Annals of Neurology, vol. 83, no. 6, pp. 1105-1124 . https://doi.org/10.1002/ana.25241

Contains fulltext : 196367.pdf (Publisher’s version ) (Open Access) OBJECTIVE: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8ad71b0f4b31ce3e824fff2aed5191eb
https://hdl.handle.net/2066/196367

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