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

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

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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10059125/1/Muntoni_STAC3_revised_no_TrChanges.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10059125Test/

المؤلفون: Schartner, V, Romero, NB, Donkervoort, S, Treves, S, Munot, P, Pierson, TM, Dabaj, I, Malfatti, E, Zaharieva, IT, Zorzato, F, Neto, OA, Brochier, G, Lornage, X, Eymard, B, Taratuto, AL, Boehm, J, Gonorazky, H, Ramos-Platt, L, Feng, L, Phadke, R, Bharucha-Goebel, DX, Sumner, CJ, Bui, MT, Lacene, E, Beuvin, M, Labasse, C, Dondaine, N, Schneider, R, Thompson, J, Boland, A, Deleuze, J-F, Matthews, E, Pakleza, AN, Sewry, CA, Biancalana, V, Quijano-Roy, S, Muntoni, F, Fardeau, M, Boennemann, CG, Laporte, J

المصدر: Acta Neuropathologica , 133 (4) pp. 517-533. (2016)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Pathology, Neurosciences & Neurology, DHPR, Congenital myopathy, Excitation-contraction coupling, Triad, Centronuclear myopathy, Core myopathy, Myotubular myopathy, HYPOKALEMIC PERIODIC PARALYSIS, INTRACELLULAR CALCIUM HOMEOSTASIS, MUSCULAR DYSGENESIS MDG, II-III-LOOP, SKELETAL-MUSCLE, RELEASE CHANNEL, MUTATIONS, SUBUNIT, GENE

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10051648/1/Matthews%20161207DHPRmanuscript%20post%20revisions.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10051648Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10051648/1/Matthews%20161207DHPRmanuscript%20post%20revisions.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10051648Test/

المؤلفون: Ambegaonkar G, Evangelista T, Maura Coughlin, O’Donovan Dg, Mark A. Tarnopolsky, Tobias B. Haack, Sarah Ennis, Foley Ar, Shatillo A, Zaharieva It, Lornage X, Sato A, Sandra Donkervoort, Nelson I, Grimmel M, Salviati L, Francesco Muntoni, Bello L, Lauren Brady, James Shorter, Iida A, Böhm J, Maja Steinlin, Ana Töpf, Ichizo Nishino, Péréon Y, Quijano-Roy S, Carsten G. Bönnemann, Ogasawara M, Hu Y, Alice Flynn Ford, Klein A, Kevin J. O'Donovan, Raymond Fl, Kuster A, Marcorelles P, Adnan Y. Manzur, Buchert R, Charlotte M. Fare, Hammans, Romero Nb, Munot P, Bertolin C, Upstill-Goddard R, Mercier S, Stojkovic T, Thomas E. Lloyd, Fleurence E, Lin Guo, Courtney E. French, Phadke R, Laporte J, Taylor Jp, Payam Mohassel, Straub, Elena Pegoraro, Hong Joo Kim, Foulds N

مصطلحات موضوعية: Genetics, medicine, Missense mutation, Muscular dystrophy, Amyotrophic lateral sclerosis, medicine.symptom, Biology, medicine.disease, Myopathy, Phenotype, Frameshift mutation, Frontotemporal dementia, Oculopharyngeal muscular dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4a3da53b35e9479cc487fedb9e370e7bTest
https://doi.org/10.1101/2021.04.08.21254942Test

المؤلفون: Zaharieva, IT, Calissano, M, Scoto, M, Preston, M, Cirak, S, Feng, L, Collins, J, Kole, R, Guglieri, M, Straub, V, Bushby, K, Ferlini, A, Morgan, JE, Muntoni, F

المصدر: PLoS One , 8 (11) , Article e80263. (2013)

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1421886/1/journal.pone.0080263.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1421886Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1421886/1/journal.pone.0080263.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1421886Test/