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Artigo de periodico
Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations (2023)
Sonne, Alexander; Antonovic, Anna Katarina; Melhedegaard, Elise; Akter, Fariha; Andersen, Jesper L; Jungbluth, Heinz; Witting, Nanna; Vissing, John; Zanoteli, Edmar ; Fornili, Arianna; Ochala, Julien
Fonte: Acta physiologica. Unidade: FM
Assuntos: DOENÇAS CONGÊNITAS, MIOPATIAS CONGÊNITAS ESTRUTURAIS, MIOPATIAS CONGÊNITAS ESTRUTURAIS, MUTAÇÃO GENÉTICA, DOENÇAS GENÉTICAS
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ABNT
SONNE, Alexander et al. Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations. Acta physiologica, v. 239, n. 2, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/57449. Acesso em: 26 out. 2025.
APA
Sonne, A., Antonovic, A. K., Melhedegaard, E., Akter, F., Andersen, J. L., Jungbluth, H., et al. (2023). Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations. Acta physiologica, 239( 2). doi:10.1111/apha.14035
NLM
Sonne A, Antonovic AK, Melhedegaard E, Akter F, Andersen JL, Jungbluth H, Witting N, Vissing J, Zanoteli E, Fornili A, Ochala J. Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations [Internet]. Acta physiologica. 2023 ; 239( 2):[citado 2025 out. 26 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57449
Vancouver
Sonne A, Antonovic AK, Melhedegaard E, Akter F, Andersen JL, Jungbluth H, Witting N, Vissing J, Zanoteli E, Fornili A, Ochala J. Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations [Internet]. Acta physiologica. 2023 ; 239( 2):[citado 2025 out. 26 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57449
Artigo de periodico
rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy (2020)
Ross, Jacob A; Tasfaout, Hichem; Levy, Yotam; Morgan, Jennifer; Cowling, Belinda S; Laporte, Jocelyn; Zanoteli, Edmar ; Romero, Norma B; Lowe, Dawn A; Jungbluth, Heinz
Fonte: Acta neuropathologica communications. Unidade: FM
Assuntos: MICROSCOPIA, CONTRAÇÃO MUSCULAR, FIBRAS MUSCULARES, MIOPATIAS CONGÊNITAS ESTRUTURAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROSS, Jacob A et al. rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy. Acta neuropathologica communications, v. 8, n. 1, 2020Tradução . . Disponível em: https://doi.org/10.1186/s40478-020-01048-8. Acesso em: 26 out. 2025.
APA
Ross, J. A., Tasfaout, H., Levy, Y., Morgan, J., Cowling, B. S., Laporte, J., et al. (2020). rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy. Acta neuropathologica communications, 8( 1). doi:10.1186/s40478-020-01048-8
NLM
Ross JA, Tasfaout H, Levy Y, Morgan J, Cowling BS, Laporte J, Zanoteli E, Romero NB, Lowe DA, Jungbluth H. rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy [Internet]. Acta neuropathologica communications. 2020 ; 8( 1):[citado 2025 out. 26 ] Available from: https://doi.org/10.1186/s40478-020-01048-8
Vancouver
Ross JA, Tasfaout H, Levy Y, Morgan J, Cowling BS, Laporte J, Zanoteli E, Romero NB, Lowe DA, Jungbluth H. rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy [Internet]. Acta neuropathologica communications. 2020 ; 8( 1):[citado 2025 out. 26 ] Available from: https://doi.org/10.1186/s40478-020-01048-8
Artigo de periodico
Rhabdomyolysis: a genetic perspective (2015)
Scalco, Renata Siciliani; Gardiner, Alice R.; Pitceathly, Robert D. S.; Zanoteli, Edmar; Becker, Jefferson; Holton, Janice L.; Houlden, Henry; Jungbluth, Heinz; Quinlivan, Ros
Fonte: Orphanet Journal of Rare Diseases. Unidade: FM
Assuntos: FENÓTIPOS, DOENÇAS HEREDITÁRIAS (GENÉTICA), POLIMORFISMO, RHACOPHORIDAE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SCALCO, Renata Siciliani et al. Rhabdomyolysis: a genetic perspective. Orphanet Journal of Rare Diseases, v. 10, p. 15 , 2015Tradução . . Disponível em: https://doi.org/10.1186/s13023-015-0264-3. Acesso em: 26 out. 2025.
APA
Scalco, R. S., Gardiner, A. R., Pitceathly, R. D. S., Zanoteli, E., Becker, J., Holton, J. L., et al. (2015). Rhabdomyolysis: a genetic perspective. Orphanet Journal of Rare Diseases, 10, 15 . doi:10.1186/s13023-015-0264-3
NLM
Scalco RS, Gardiner AR, Pitceathly RDS, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R. Rhabdomyolysis: a genetic perspective [Internet]. Orphanet Journal of Rare Diseases. 2015 ; 10 15 .[citado 2025 out. 26 ] Available from: https://doi.org/10.1186/s13023-015-0264-3
Vancouver
Scalco RS, Gardiner AR, Pitceathly RDS, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R. Rhabdomyolysis: a genetic perspective [Internet]. Orphanet Journal of Rare Diseases. 2015 ; 10 15 .[citado 2025 out. 26 ] Available from: https://doi.org/10.1186/s13023-015-0264-3
Artigo de periodico
Consensus statement on standard of care for congenital myopathies (2012)
Wang, Ching H; Dowling, James J; North, Kathryn; Schroth, Mary K; Sejersen, Thomas; Shapiro, Frederic; Bellini, Jonathan; Weiss, Hali; Guillet, Marc; Amburgey, Kimberly; Apkon, Susan; Bertini, Enrico; Bonnemann, Carsten; Clarke, Nigel; Connolly, Anne M; Estournet-Mathiaud, Brigitte; Fitzgerald, Dominic; Florence, Julaine M; Gee, Richard; Gurgel Giannetti, Juliana; Glanzman, Allan M; Hofmeister, Brittany; Jungbluth, Heinz; Koumbourlis, Anastassios C; Laing, Nigel G; Main, Marion; Morrison, Leslie A; Munns, Craig; Rose, Kristy; Schuler, Pamela M; Sewry, Caroline; Storhaug, Kari; Vainzof, Mariz ; Yuan, Nanci
Fonte: Journal of Child Neurology. Unidade: IB
Assuntos: DOENÇAS MUSCULARES, NEUROLOGIA, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
WANG, Ching H et al. Consensus statement on standard of care for congenital myopathies. Journal of Child Neurology, v. 37, n. 3, p. 363-382, 2012Tradução . . Disponível em: https://doi.org/10.1177/0883073812436605. Acesso em: 26 out. 2025.
APA
Wang, C. H., Dowling, J. J., North, K., Schroth, M. K., Sejersen, T., Shapiro, F., et al. (2012). Consensus statement on standard of care for congenital myopathies. Journal of Child Neurology, 37( 3), 363-382. doi:10.1177/0883073812436605
NLM
Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F, Bellini J, Weiss H, Guillet M, Amburgey K, Apkon S, Bertini E, Bonnemann C, Clarke N, Connolly AM, Estournet-Mathiaud B, Fitzgerald D, Florence JM, Gee R, Gurgel Giannetti J, Glanzman AM, Hofmeister B, Jungbluth H, Koumbourlis AC, Laing NG, Main M, Morrison LA, Munns C, Rose K, Schuler PM, Sewry C, Storhaug K, Vainzof M, Yuan N. Consensus statement on standard of care for congenital myopathies [Internet]. Journal of Child Neurology. 2012 ; 37( 3): 363-382.[citado 2025 out. 26 ] Available from: https://doi.org/10.1177/0883073812436605
Vancouver
Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F, Bellini J, Weiss H, Guillet M, Amburgey K, Apkon S, Bertini E, Bonnemann C, Clarke N, Connolly AM, Estournet-Mathiaud B, Fitzgerald D, Florence JM, Gee R, Gurgel Giannetti J, Glanzman AM, Hofmeister B, Jungbluth H, Koumbourlis AC, Laing NG, Main M, Morrison LA, Munns C, Rose K, Schuler PM, Sewry C, Storhaug K, Vainzof M, Yuan N. Consensus statement on standard of care for congenital myopathies [Internet]. Journal of Child Neurology. 2012 ; 37( 3): 363-382.[citado 2025 out. 26 ] Available from: https://doi.org/10.1177/0883073812436605

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