المؤلفون: Topf 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, Bonnemann 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, Loscher WN, Malfatti E, Manzur A, Marti 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

المصدر: Nature Genetics, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/297372; https://eprints.ncl.ac.uk/fulltext.aspx?url=297372/129CEFBB-F9A4-41E1-B56F-2B14BF22C0DE.pdf&pub_id=297372

الاتاحة: https://eprints.ncl.ac.uk/297372

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

Relation: 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/s41588-023-01651-0; https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240
https://doi.org/10.1038/s41588-023-01651-0

المؤلفون: Genetti, CA, Pinelli, M, Brunetti-Pierri, N, Garza-Flores, A, Jackson, Adam, 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: Genomics England Research Consortium , Genetti , CA , Pinelli , M , Brunetti-Pierri , N , Garza-Flores , A , Jackson , 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 ....

Relation: https://research.manchester.ac.uk/en/publications/5bb96e6d-bf49-4bef-9208-796742127be1

الاتاحة: https://research.manchester.ac.uk/en/publications/5bb96e6d-bf49-4bef-9208-796742127be1
https://doi.org/10.1016/j.ajhg.2023.02.010
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:000957203200001&DestLinkType=FullRecord&DestApp=WOS
http://www.scopus.com/inward/record.url?scp=85149177928&partnerID=8YFLogxK
https://www.mendeley.com/catalogue/4c86c496-c7b9-311f-b81c-cd3cf715263b/

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 , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/b4a79d0c-938d-4e7a-bf96-7faefc52d0d3
https://doi.org/10.1016/j.ajhg.2020.11.001
https://pure.eur.nl/ws/files/48398627/RePub-132482-OA.pdf
http://hdl.handle.net/1765/132482

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

Relation: https://ora.ox.ac.uk/objects/uuid:88db6cd7-7628-48c3-b7e6-acd92f31f075; https://doi.org/10.1002/ana.25660

الاتاحة: https://doi.org/10.1002/ana.25660
https://ora.ox.ac.uk/objects/uuid:88db6cd7-7628-48c3-b7e6-acd92f31f075

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10112267/1/acn3.51218.pdf; https://discovery.ucl.ac.uk/id/eprint/10112267/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10112267/1/acn3.51218.pdf
https://discovery.ucl.ac.uk/id/eprint/10112267/

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10081270/1/archdischild-2019-317910.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10081270/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10081270/1/archdischild-2019-317910.full.pdf
https://discovery.ucl.ac.uk/id/eprint/10081270/

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10071697/3/Bachmann_SEPN1%20changes%20accepted_03.03.19.pdf; https://discovery.ucl.ac.uk/id/eprint/10071697/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10071697/3/Bachmann_SEPN1%20changes%20accepted_03.03.19.pdf
https://discovery.ucl.ac.uk/id/eprint/10071697/

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: 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

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/253833
NHMRC/1155221

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

Relation: 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.61392.; http://hdl.handle.net/11343/253833

الاتاحة: http://hdl.handle.net/11343/253833

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

Relation: https://www.jmir.org/2021/3/e21023; https://doaj.org/toc/1438-8871

URL الوصول: https://doaj.org/article/4b564d19670844b6a787c71480c30e1c