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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: Pruvost, R., Csanyi, M., Lefebvre, G., Biancalana, V., Malfatti, E., Cassim, F., Oldfors, C., Defebvre, L., Oldfors, A., Tard, C.
المصدر: Molecular Genetics and Metabolism Reports ; volume 38, page 101046 ; ISSN 2214-4269
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.ymgmr.2023.101046Test
https://api.elsevier.com/content/article/PII:S2214426923000927?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426923000927?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Carrington, G., Hau, A., Kosta, S., Dugdale, H.F., Muntoni, F., D'Amico, A., Van den Bergh, P., Romero, N.B., Malfatti, E., Vilchez, J.J., Oldfors, A., Pajusalu, S., Õunap, K., Giralt-Pujol, M., Zanoteli, E., Campbell, K.S., Iwamoto, H., Peckham, M., Ochala, J.
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/213624/1/172322.2-20231019160721-covered-e0fd13ba177f913fd3156f593ead4cfd.pdfTest; Carrington, G., Hau, A., Kosta, S. et al. (16 more authors) (2023) Human skeletal myopathy myosin mutations disrupt myosin head sequestration. JCI Insight, 8 (21). e172322. ISSN 2379-3708
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6دورية أكاديمية
المؤلفون: Hubregtse, Lisanne, Bouman, K., Lama, Cheryane, Lassche, S., Graaf, Nicolas de, Taglietti, Valentina, Kusters, B., Engelen, B.G.M. van, Voermans, N.C., Malfatti, E.
المصدر: Neuromuscular Disorders, 36, pp. 6-15
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/304205/304205.pdfTest; https://repository.ubn.ru.nl/handle/2066/304205Test
الإتاحة: https://doi.org/10.1016/j.nmd.2024.01.003Test
https://repository.ubn.ru.nl//bitstream/handle/2066/304205/304205.pdfTest
https://repository.ubn.ru.nl/handle/2066/304205Test -
7دورية أكاديمية
المؤلفون: Salort-Campana, E., Solé, G., Magot, A., Tard, Celine, Noury, J. B., Behin, A., De La Cruz, E., Boyer, F., Lefeuvre, C., Masingue, M., Debergé, L., Finet, A., Brison, M., Spinazzi, M., Pegat, A., Sacconi, S., Malfatti, E., Choumert, A., Bellance, R., Bedat-Millet, A. L., Feasson, L., Vuillerot, C., Jacquin-Piques, A., Michaud, M., Pereon, Y., Stojkovic, T., Laforêt, P., Attarian, S., Cintas, P.
المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172
العلاقة: Orphanet J Rare Dis; http://hdl.handle.net/20.500.12210/105518Test
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8دورية 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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9دورية أكاديمية
المؤلفون: Perrin A., Metay C., Villanova M., Carlier R. -Y., Pegoraro E., Juntas Morales R., Stojkovic T., Richard I., Richard P., Romero N. B., Granzier H., Koenig M., Malfatti E., Cossee M.
المساهمون: Perrin, A., Metay, C., Villanova, M., Carlier, R. -Y., Pegoraro, E., Juntas Morales, R., Stojkovic, T., Richard, I., Richard, P., Romero, N. B., Granzier, H., Koenig, M., Malfatti, E., Cossee, M.
مصطلحات موضوعية: Adolescent, Child, Connectin, Deltoid Muscle, Female, Human, Male, Myosin Heavy Chain, Pedigree, Sibling, Muscular Diseases
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32307885; info:eu-repo/semantics/altIdentifier/wos/WOS:000526579900001; volume:7; issue:5; firstpage:846; lastpage:854; numberofpages:9; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; http://hdl.handle.net/11577/3395079Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083682751
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10دورية أكاديمية
المؤلفون: Mangner, N, Garbade, J, Heyne, E, van den Berg, M, Winzer, EB, Hommel, J, Sandri, M, Jozwiak-Nozdrzykowska, J, Meyer, A, Lehmann, S, Schmitz, C, Malfatti, E, Schwarzer, M, Ottenheijm, C, Bowen, TS, Linke, A, Adams, V
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/171939/1/Manuscript_Lipamus_CircRes_final%20file.pdfTest; https://eprints.whiterose.ac.uk/171939/6/SUPPLEMENTAL%20MATERIAL_CircRes.pdfTest; Mangner, N, Garbade, J, Heyne, E et al. (14 more authors) (2021) Molecular Mechanisms of Diaphragm Myopathy in Humans with Severe Heart Failure. Circulation Research. ISSN 0009-7330
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