Zobrazeno 1 - 10
of 286
pro vyhledávání: '"Marston, SB."'
Autor:
Papakadi, M, Marston, SB
Publikováno v:
Frontiers in Physiology
Frontiers in Physiology, Vol 7 (2016)
Frontiers in Physiology, Vol 7 (2016)
Troponin plays a central role in regulation of muscle contraction. It is the Ca2+ switch of striated muscles including the heart and in the cardiac muscle is physiologically modulated by PKA-dependent phosphorylation at Ser22 and 23. Many cardiomyopa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d407c85b66b0c992dcb4cdae1a300384
https://pubmed.ncbi.nlm.nih.gov/27853436
https://pubmed.ncbi.nlm.nih.gov/27853436
Autor:
Donkervoort, S., Papadaki, M., de Winter, JM., Neu, MB., Kirschner, J., Bolduc, V., Yang, ML., Gibbons, MA., Hu, Y., Dastgir, J., Leach, ME., Rutkowski, A., Foley, AR., Krüger, M., Wartchow, EP., McNamara, E., Ong, R., Nowak, KJ., Laing, NG., Clarke, NF., Ottenheijm, CAC., Marston, SB., Bönnemann, CG.
Publikováno v:
Annals of Neurology, 78(6), 982-994. John Wiley and Sons Inc.
Donkervoort, S, Papadaki, M, de Winter, J M, Neu, M B, Kirschner, J, Bolduc, V, Yang, M L, Gibbons, M A, Hu, Y, Dastgir, J, Leach, M E, Rutkowski, A, Foley, A, Krueger, M, Wartchow, E P, McNamara, E, Ong, R, Nowak, K J, Laing, N G, Clarke, N F, Ottenheijm, C A C, Marston, S B & Boennemann, C G 2015, ' TPM3 Deletions Cause a Hypercontractile Congenital Muscle Stiffness Phenotype ', Annals of Neurology, vol. 78, no. 6, pp. 982-994 . https://doi.org/10.1002/ana.24535
Donkervoort, S, Papadaki, M, de Winter, J M, Neu, M B, Kirschner, J, Bolduc, V, Yang, M L, Gibbons, M A, Hu, Y, Dastgir, J, Leach, M E, Rutkowski, A, Foley, A, Krueger, M, Wartchow, E P, McNamara, E, Ong, R, Nowak, K J, Laing, N G, Clarke, N F, Ottenheijm, C A C, Marston, S B & Boennemann, C G 2015, ' TPM3 Deletions Cause a Hypercontractile Congenital Muscle Stiffness Phenotype ', Annals of Neurology, vol. 78, no. 6, pp. 982-994 . https://doi.org/10.1002/ana.24535
Mutations in TPM3, encoding Tpm3.12, cause a clinically and histopathologically diverse group of myopathies characterized by muscle weakness. We report two patients with novel de novo Tpm3.12 single glutamic acid deletions at positions ΔE218 and ΔE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::92ab0968784813e74ff24879a77e53eb
https://research.vumc.nl/en/publications/6186f208-7dfb-4e06-9e41-25951f70d4a3
https://research.vumc.nl/en/publications/6186f208-7dfb-4e06-9e41-25951f70d4a3
Autor:
Donkervoort, S, Neu, M, Kirschner, J, Yang, ML, Marston, SB, Gibbons, MA, Hu, Y, de Winter, JM, Ottenheijm, CAC, Rutkowski, A, Krueger, M, McNamara, E, Ong, R, Nowak, K, Clarke, NF, Boennemann, CG
Publikováno v:
19th International Congress of the World Muscle-Society
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::9e06b135f8c5218e821609446a99542c
http://hdl.handle.net/10044/1/26634
http://hdl.handle.net/10044/1/26634
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