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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
Source: Acta physiologica. Unidade: FM
Subjects: 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: 24 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. 24 ] 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. 24 ] 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
Source: Acta neuropathologica communications. Unidade: FM
Subjects: 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: 24 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. 24 ] 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. 24 ] 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
Source: Orphanet Journal of Rare Diseases. Unidade: FM
Subjects: 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: 24 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. 24 ] 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. 24 ] Available from: https://doi.org/10.1186/s13023-015-0264-3
Artigo de periodico
Approach to the diagnosis of congenital myopathies (2014)
North, Kathryn N.; Wang, Ching H.; Clarke, Nigel; Jungbluth, Heinz; Vainzof, Mariz ; Dowling, James J.; Amburgey, Kimberly; Quijano-Roy, Susana; Beggs, Alan H.; Sewry, Caroline; Laing, Nigel G.; Bönnemann, Carsten G.
Source: Neuromuscular Disorders. Unidade: IB
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, DIAGNÓSTICO, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NORTH, Kathryn N. et al. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, v. 24, n. 2, p. 97\2013116, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2013.11.003. Acesso em: 24 out. 2025.
APA
North, K. N., Wang, C. H., Clarke, N., Jungbluth, H., Vainzof, M., Dowling, J. J., et al. (2014). Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, 24( 2), 97\2013116. doi:10.1016/j.nmd.2013.11.003
NLM
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG. Approach to the diagnosis of congenital myopathies [Internet]. Neuromuscular Disorders. 2014 ; 24( 2): 97\2013116.[citado 2025 out. 24 ] Available from: https://doi.org/10.1016/j.nmd.2013.11.003
Vancouver
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG. Approach to the diagnosis of congenital myopathies [Internet]. Neuromuscular Disorders. 2014 ; 24( 2): 97\2013116.[citado 2025 out. 24 ] Available from: https://doi.org/10.1016/j.nmd.2013.11.003

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