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1دورية أكاديمية
المؤلفون: Töpf, A, Cox, D, Zaharieva, IT, Di Leo, V, Sarparanta, J, Jonson, PH, Sealy, IM, Smolnikov, A, White, RJ, Vihola, A, Savarese, M, Merteroglu, M, Wali, N, Laricchia, KM, Venturini, C, Vroling, B, Stenton, SL, Cummings, BB, Harris, E, Marini-Bettolo, C, Diaz-Manera, J, Henderson, M, Barresi, R, Duff, J, England, EM, Patrick, J, Al-Husayni, S, Biancalana, V, Beggs, AH, Bodi, I, Bommireddipalli, S, Bönnemann, CG, Cairns, A, Chiew, M-T, Claeys, KG, Cooper, ST, Davis, MR, Donkervoort, S, Erasmus, CE, Fassad, MR, Genetti, CA, Grosmann, C, Jungbluth, H, Kamsteeg, E-J, Lornage, X, Löscher, WN, Malfatti, E, Manzur, A, Martí, P, Mongini, TE, Muelas, N, Nishikawa, A, O'Donnell-Luria, A, Ogonuki, N, O'Grady, GL, O'Heir, E, Paquay, S, Phadke, R, Pletcher, BA, Romero, NB, Schouten, M, Shah, S, Smuts, I, Sznajer, Y, Tasca, G, Taylor, RW, Tuite, A, Van den Bergh, P, VanNoy, G, Voermans, NC, Wanschitz, JV, Wraige, E, Yoshimura, K, Oates, EC, Nakagawa, O, Nishino, I, Laporte, J, Vilchez, JJ, MacArthur, DG, Sarkozy, A, Cordell, HJ, Udd, B, Busch-Nentwich, EM, Muntoni, F, Straub, V
مصطلحات موضوعية: Animals, Humans, Male, Connectin, Muscle, Skeletal, Muscular Diseases, Mutation, Zebrafish
وصف الملف: 395 - 407
العلاقة: Nat Genet; Töpf, A., Cox, D., Zaharieva, I.T. et al. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet 56, 395–407 (2024). https://doi.org/10.1038/s41588-023-01651-0Test; https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test
الإتاحة: https://doi.org/10.1038/s41588-023-01651-0Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test -
2مؤتمر
المؤلفون: Mastantuono, E, Repp, B, Alston, CL, Schiff, M, Haack, TB, Rotig, A, Ardissone, A, Lombes, A, Catarino, CB, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, HJ, Scurr, I, De Coo, IF, Moroni, I, Smet, J, Mayr, JA, De Meirleir, L, Schuelke, M, Zeviani, M, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Strom, TM, Herberg, U, Sperl, W, Nassogne, M, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Taylor, RW, Haberle, J, Vockley, J, Prokisch, H, Wortmann, S
العلاقة: https://ora.ox.ac.uk/objects/uuid:caee25dd-92af-4105-985d-f9cbd48ddd01Test; https://doi.org/10.1038/s41431-019-0404-7Test
الإتاحة: https://doi.org/10.1038/s41431-019-0404-7Test
https://ora.ox.ac.uk/objects/uuid:caee25dd-92af-4105-985d-f9cbd48ddd01Test -
3دورية أكاديمية
المؤلفون: Persson O, Muthukumar Y, Basu S, Jenninger L, Uhler JP, Berglund A-K, McFarland R, Taylor RW, Gustafsson CM, Larsson E, Falkenberg M
المصدر: Nature communications, 15 February 2019
وصف الملف: application/pdf
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4
المؤلفون: Alston, CL, Ceccatelli Berti, C, Blakely, EL, Olahova, M, He, L, McMahon, CJ, Olpin, SE, Hargreaves, IP, Nolli, C, McFarland, R, Goffrini, P, O'Sullivan, MJ, Taylor, RW
المصدر: Human Genetics. 134(8):869-879
مصطلحات موضوعية: QH301, RM, Genetics, Genetics(clinical), QH426
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5979c8dae5154048cc7ed47b020a7a3cTest
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5دورية أكاديمية
المؤلفون: Goulding A (AUTHOR), Taylor RW (AUTHOR), Grant AM (AUTHOR), Parnell WR (AUTHOR), Wilson NC (AUTHOR), Williams SM (AUTHOR)
المصدر: International Journal of Obesity. Jul2010, Vol. 34 Issue 7, p1188-1190. 3p.