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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 -
2دورية أكاديمية
المؤلفون: Duncan, AR, Vitobello, A, Collins, SC, Vancollie, VE, Lelliott, CJ, Rodan, L, Shi, J, Seman, AR, Agolini, E, Novelli, A, Prontera, P, Guillen Sacoto, MJ, Santiago-Sim, T, Trimouille, A, Goizet, C, Nizon, M, Bruel, A L, Philippe, C, Grant, PE, Wojcik, MH, Stoler, J, Genetti, CA, van Dooren, Marieke, Maas, SM, Alders, M, Faivre, L, Sorlin, A, Yoon, G, Yalcin, B, Agrawal, PB
المصدر: Duncan , AR , Vitobello , A , Collins , SC , Vancollie , VE , Lelliott , CJ , Rodan , L , Shi , J , Seman , AR , Agolini , E , Novelli , A , Prontera , P , Guillen Sacoto , MJ , Santiago-Sim , T , Trimouille , A , Goizet , C , Nizon , M , Bruel , A L , Philippe , C , Grant , PE , Wojcik , MH , Stoler , J , Genetti , CA , van Dooren , M , Maas , SM , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ajhg.2020.11.001Test
https://pure.eur.nl/en/publications/b4a79d0c-938d-4e7a-bf96-7faefc52d0d3Test
https://pure.eur.nl/ws/files/48398627/RePub-132482-OA.pdfTest
http://hdl.handle.net/1765/132482Test -
3دورية أكاديمية
المؤلفون: Villar-Quiles, RN, Catervi, F, Cabet, E, Juntas-Morales, R, Genetti, CA, Gidaro, T, Koparir, A, Yüksel, A, Coppens, S, Deconinck, N, Pierce-Hoffman, E, Lornage, X, Durigneux, J, Laporte, J, Rendu, J, Romero, NB, Beggs, AH, Servais, LJP, Cossée, M, Olivé, M, Böhm, J, Duband-Goulet, I, Ferreiro, A
العلاقة: https://ora.ox.ac.uk/objects/uuid:88db6cd7-7628-48c3-b7e6-acd92f31f075Test; https://doi.org/10.1002/ana.25660Test
الإتاحة: https://doi.org/10.1002/ana.25660Test
https://ora.ox.ac.uk/objects/uuid:88db6cd7-7628-48c3-b7e6-acd92f31f075Test -
4دورية أكاديمية
المؤلفون: Silwal, A, Sarkozy, A, Scoto, M, Ridout, D, Schmidt, A, Laverty, A, Henriques, M, D'Argenzio, L, Main, M, Mein, R, Manzur, AY, Abel, F, Al-Ghamdi, F, Genetti, CA, Ardicli, D, Haliloglu, G, Topaloglu, H, Beggs, AH, Muntoni, F
المصدر: Annals of Clinical and Translational Neurology , 7 (11) pp. 2288-2296. (2020)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10112267/1/acn3.51218.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10112267Test/
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5دورية أكاديمية
المؤلفون: Genetti, CA, Pinelli, M, Brunetti-Pierri, N, Garza-Flores, A, Shahani, D, Saneto, RP, Zampino, G, Leoni, C, Agolini, E, Novelli, A, Haack, BUBTB, Heinritz, W, Matzker, E, Alhaddad, B, Abou Jamra, R, Bartolomaeus, T, AlHamdan, S, Carapito, R, Isidor, B, Bahram, S, Ritter, A, Izumi, K, Shakked, B, Barel, O, Ben Zeev, B, Begtrup, A, Carere, DA, Mullegama, SV, Palculict, TB, Calame, DG, Schwan, K, Aycinena, ARP, Traberg, R, Douzgou, S, Pirt, H, Banka, S, Chao, HT
المصدر: Genetti , CA , Pinelli , M , Brunetti-Pierri , N , Garza-Flores , A , Shahani , D , Saneto , RP , Zampino , G , Leoni , C , Agolini , E , Novelli , A , Haack , BUBTB , Heinritz , W , Matzker , E , Alhaddad , B , Abou Jamra , R , Bartolomaeus , T , AlHamdan , S , Carapito , R , Isidor , B , Bahram , S , Ritter , A , Izumi , K , Shakked , B , Barel , O , Ben Zeev ....
الإتاحة: https://doi.org/10.1016/j.ajhg.2023.02.010Test
https://research.manchester.ac.uk/en/publications/5bb96e6d-bf49-4bef-9208-796742127be1Test
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:000957203200001&DestLinkType=FullRecord&DestApp=WOSTest -
6دورية أكاديميةMortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis
المؤلفون: Graham, RJ, Muntoni, F, Hughes, I, Yum, SW, Kuntz, NL, Yang, ML, Byrne, BJ, Prasad, S, Alvarez, R, Genetti, CA, Haselkorn, T, James, ES, LaRusso, LB, Noursalehi, M, Rico, S, Beggs, AH
المصدر: Archives of Disease in Childhood (2019) (In press).
مصطلحات موضوعية: X-linked myotubular myopathy, centronuclear myopathy, congenital myopathy, mortality, respiratory support, retrospective chart review, tracheostomy
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10081270/1/archdischild-2019-317910.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10081270Test/
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7دورية أكاديمية
المؤلفون: Bachmann, C, Noreen, F, Voermans, NC, Schar, PL, Vissing, J, Fock, JM, Bulk, S, Kusters, B, Moore, SA, Beggs, AH, Matthews, KD, Meyer, M, Genetti, CA, Meola, G, Cardani, R, Matthews, E, Jungluth, H, Muntoni, F, Zorzato, F, Treves, S
المصدر: Human Mutation , 40 (7) pp. 962-974. (2019)
مصطلحات موضوعية: congenital myopathies, epigenetics, excitation–contraction coupling, gene expression, ryanodine receptor
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10071697/3/Bachmann_SEPN1%20changes%20accepted_03.03.19.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10071697Test/
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8دورية أكاديمية
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
العلاقة: 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.25241Test.; http://hdl.handle.net/11343/254896Test
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9دورية أكاديمية
المؤلفون: Boone, PM, Paterson, S, Mohajeri, K, Zhu, W, Genetti, CA, Tai, DJC, Nori, N, Agrawal, PB, Bacino, CA, Bi, W, Talkowski, ME, Hogan, BM, Rodan, LH
العلاقة: NHMRC/1155221; Boone, P. M., Paterson, S., Mohajeri, K., Zhu, W., Genetti, C. A., Tai, D. J. C., Nori, N., Agrawal, P. B., Bacino, C. A., Bi, W., Talkowski, M. E., Hogan, B. M. & Rodan, L. H. (2019). Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 182 (1), pp.189-194. https://doi.org/10.1002/ajmg.a.61392Test.; http://hdl.handle.net/11343/253833Test
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10دورية أكاديمية
المؤلفون: Li, Jianqiao, Hojlo, Margaret A, Chennuri, Sampath, Gujral, Nitin, Paterson, Heather L, Shefchek, Kent A, Genetti, Casie A, Cohn, Emily L, Sewalk, Kara C, Garvey, Emily A, Buttermore, Elizabeth D, Anderson, Nickesha C, Beggs, Alan H, Agrawal, Pankaj B, Brownstein, John S, Haendel, Melissa A, Holm, Ingrid A, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A
المصدر: Journal of Medical Internet Research, Vol 23, Iss 3, p e21023 (2021)
مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
النص الكامل