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1دورية أكاديمية
المؤلفون: de Winter, JM, Molenaar, JP, Yuen, M, van der Pijl, R, Shen, S, Conijn, S, van de Locht, M, Willigenburg, M, Bogaards, SJP, van Kleef, ESB, Lassche, S, Persson, M, Rassier, DE, Sztal, TE, Ruparelia, AA, Oorschot, V, Ramm, G, Hall, TE, Xiong, Z, Johnson, CN, Li, F, Kiss, B, Lozano-Vidal, N, Boon, RA, Marabita, M, Nogara, L, Blaauw, B, Rodenburg, RJ, Kusters, B, Doorduin, J, Beggs, AH, Granzier, H, Campbell, K, Ma, W, Irving, T, Malfatti, E, Romero, NB, Bryson-Richardson, RJ, van Engelen, BGM, Voermans, NC, Ottenheijm, CAC
المصدر: The Journal of clinical investigation. 130(2):754-767
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Joureau, B, de Winter, JM, Conijn, S, Bogaards, SJP, Kovacevic, I, Kalganov, A, Persson, M, Lindqvist, J, Stienen, GJM, Irving, TC, Ma, WK, Yuen, M, Clarke, NF, Rassier, DE, Malfatti, E, Romero, NB, Beggs, AH, Ottenheijm, CAC
المصدر: Annals of neurology. 83(2):269-282
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية 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 -
4دورية أكاديمية
المؤلفون: Olive, M, Engvall, M, Ravenscroft, G, Cabrera-Serrano, M, Jiao, H, Bortolotti, CA, Pignataro, M, Lambrughi, M, Jiang, HB, Forrest, ARR, Benseny-Cases, N, Hofbauer, S, Obinger, C, Battistuzzi, G, Bellei, M, Borsari, M, Di Rocco, G, Viola, HM, Hoo, LC, Cladera, J, Lagerstedt-Robinson, K, Xiang, FQ, Wredenberg, A, Miralles, F, Baiges, JJ, Malfatti, E, Romero, NB, Streichenberger, N, Via, C, Claeys, KG, Straathof, CSM, Goris, A, Freyer, C, Lammens, M, Bassez, G, Kere, J, Clemente, P, Sejersen, T, Udd, B, Vidal, N, Ferrer, I, Edstrom, L, Wedell, A, Laing, NG
المصدر: Nature communications. 10(1):1396
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية 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 -
6دورية أكاديمية
المؤلفون: Zaharieva, IT, Sarkozy, A, Munot, P, Manzur, A, O'Grady, G, Rendu, J, Malfatti, E, Amthor, H, Servais, Prof Laurent, Urtizberea, JA, Neto, OA, Zanoteli, E, Donkervoort, S, Taylor, J, Dixon, J, Poke, G, Foley, AR, Holmes, C, Williams, G, Holder, M, Yum, S, Medne, L, Quijano-Roy, S, Romero, NB, Fauré, J, Feng, L, Bastaki, L, Davis, MR, Phadke, R, Sewry, CA, Bönnemann, CG, Jungbluth, H, Bachmann, C, Treves, S, Muntoni, F
العلاقة: https://ora.ox.ac.uk/objects/uuid:54c4177b-aa57-478f-b0d9-a31e1d877de4Test; https://doi.org/10.1002/humu.23635Test
الإتاحة: https://doi.org/10.1002/humu.23635Test
https://ora.ox.ac.uk/objects/uuid:54c4177b-aa57-478f-b0d9-a31e1d877de4Test -
7دورية أكاديمية
المؤلفون: Donkervoort, S, Kutzner, CE, Hu, Y, Lornage, X, Rendu, J, Stojkovic, T, Baets, J, Neuhaus, SB, Tanboon, J, Maroofian, R, Bolduc, V, Mroczek, M, Conijn, S, Kuntz, NL, Töpf, A, Monges, S, Lubieniecki, F, McCarty, RM, Chao, KR, Governali, S, Böhm, J, Boonyapisit, K, Malfatti, E, Sangruchi, T, Horkayne-Szakaly, I, Hedberg-Oldfors, C, Efthymiou, S, Noguchi, S, Djeddi, S, Iida, A, Di Rosa, G, Fiorillo, C, Salpietro, V, Darin, N, Fauré, J, Houlden, H, Oldfors, A, Nishino, I, De Ridder, W, Straub, V, Pokrzywa, W, Laporte, J, Foley, AR, Romero, NB, Ottenheijm, C, Hoppe, T, Bönnemann, CG
المصدر: American Journal of Human Genetics , 107 (6) pp. 1078-1095. (2020)
مصطلحات موضوعية: UNC-45, UNC45B, myosin, chaperone, core myopathy, muscle, C. elegans, sarcomere, myofibrillar
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10118038/3/Efthymiou_Revision%20UNC45B%20Donkervoort%20Kutzner.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118038Test/
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8دورية أكاديمية
المؤلفون: Ross, JA, Tasfaout, H, Levy, Y, Morgan, J, Cowling, BS, Laporte, J, Zanoteli, E, Romero, NB, Lowe, DA, Jungbluth, H, Lawlor, MW, Mack, DL, Ochala, J
المصدر: Acta Neuropathologica Communications , 8 (1) , Article 167. (2020)
مصطلحات موضوعية: Congenital myopathy, Force production, Myofilament, Myonuclear domain, Myotubularin, Skeletal muscle
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10113347/1/s40478-020-01048-8.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10113347Test/
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9
المؤلفون: Jeannin-Girardon, A, Collet, P, Chennen, K, Poch, O, Romero, Nb, Evangelista, T, Laporte, J, Cadot, B, Meyer, C
المساهمون: Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Journées de la Société Française de Myologie
Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. 2022مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3515::b04b45559ec4359e88563d41230e0b1cTest
https://hal.science/hal-03953252Test -
10دورية أكاديمية
المؤلفون: Zaharieva, IT, Sarkozy, A, Munot, P, Manzur, A, O'Grady, G, Rendu, J, Malfatti, E, Amthor, H, Servais, L, Urtizberea, JA, Neto, OA, Zanoteli, E, Donkervoort, S, Taylor, J, Dixon, J, Poke, G, Foley, AR, Holmes, C, Williams, G, Holder, M, Yum, S, Medne, L, Quijano-Roy, S, Romero, NB, Fauré, J, Feng, L, Bastaki, L, Davis, MR, Phadke, R, Sewry, CA, Bönnemann, CG, Jungbluth, H, Bachmann, C, Treves, S, Muntoni, F
المصدر: Human Mutation , 39 (12) pp. 1980-1994. (2018)
مصطلحات موضوعية: STAC3, congenital myopathy, excitation-contraction coupling, malignant hyperthermia
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10059125/1/Muntoni_STAC3_revised_no_TrChanges.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10059125Test/
النص الكامل