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Artigo de periodico
Idiopathic inflammatory myopathies: recent evidence linking pathogenesis and clinical features (2025)
Martins, Eunice Fragoso; Cappello, Carla Helena; Shinjo, Samuel Katsuyuki ; Appenzeller, Simone; Souza, Jean Marcos de
Source: International Journal of Molecular Sciences. Unidade: FM
Assunto: MIOPATIAS CONGÊNITAS ESTRUTURAIS
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MARTINS, Eunice Fragoso et al. Idiopathic inflammatory myopathies: recent evidence linking pathogenesis and clinical features. International Journal of Molecular Sciences, v. 26, n. 7, 2025Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/87058. Acesso em: 24 abr. 2026.
APA
Martins, E. F., Cappello, C. H., Shinjo, S. K., Appenzeller, S., & Souza, J. M. de. (2025). Idiopathic inflammatory myopathies: recent evidence linking pathogenesis and clinical features. International Journal of Molecular Sciences, 26( 7). doi:10.3390/ijms26073302
NLM
Martins EF, Cappello CH, Shinjo SK, Appenzeller S, Souza JM de. Idiopathic inflammatory myopathies: recent evidence linking pathogenesis and clinical features [Internet]. International Journal of Molecular Sciences. 2025 ; 26( 7):[citado 2026 abr. 24 ] Available from: https://observatorio.fm.usp.br/handle/OPI/87058
Vancouver
Martins EF, Cappello CH, Shinjo SK, Appenzeller S, Souza JM de. Idiopathic inflammatory myopathies: recent evidence linking pathogenesis and clinical features [Internet]. International Journal of Molecular Sciences. 2025 ; 26( 7):[citado 2026 abr. 24 ] Available from: https://observatorio.fm.usp.br/handle/OPI/87058
Tese (Doutorado)
Miopatia do doente crítico e atrofia muscular associada ao desuso: desvendando mecanismos moleculares e alvos terapêuticos (2025)
Ribeiro, Fernando Silva; Moriscot, Anselmo Sigari (Orientador)
Unidade: ICB
Subjects: MIOSINA, MÚSCULO ESQUELÉTICO, HOMEOSTASE, MIOPATIAS CONGÊNITAS ESTRUTURAIS, ATROFIA MUSCULAR, PROTEÔMICA
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RIBEIRO, Fernando Silva. Miopatia do doente crítico e atrofia muscular associada ao desuso: desvendando mecanismos moleculares e alvos terapêuticos. 2025. Tese (Doutorado) – Universidade de São Paulo, São Paulo, 2025. Disponível em: https://www.teses.usp.br/teses/disponiveis/42/42138/tde-12032026-100321/. Acesso em: 24 abr. 2026.
APA
Ribeiro, F. S. (2025). Miopatia do doente crítico e atrofia muscular associada ao desuso: desvendando mecanismos moleculares e alvos terapêuticos (Tese (Doutorado). Universidade de São Paulo, São Paulo. Recuperado de https://www.teses.usp.br/teses/disponiveis/42/42138/tde-12032026-100321/
NLM
Ribeiro FS. Miopatia do doente crítico e atrofia muscular associada ao desuso: desvendando mecanismos moleculares e alvos terapêuticos [Internet]. 2025 ;[citado 2026 abr. 24 ] Available from: https://www.teses.usp.br/teses/disponiveis/42/42138/tde-12032026-100321/
Vancouver
Ribeiro FS. Miopatia do doente crítico e atrofia muscular associada ao desuso: desvendando mecanismos moleculares e alvos terapêuticos [Internet]. 2025 ;[citado 2026 abr. 24 ] Available from: https://www.teses.usp.br/teses/disponiveis/42/42138/tde-12032026-100321/
Artigo de periodico
Evaluation of creatine monohydrate supplementation on the gastrocnemius muscle of mice with muscular dystrophy: a preliminary study (2025)
Fernandes, Victor Augusto Ramos ; Santos, Gabriela Pereira dos; Iatecola, Amilton ; Buchaim, Daniela Vieira ; Garcia, Ionaly Judith Faria; Reis, Carlos Henrique Bertoni ; Bueno, Lívia Maluf Menegazzo; Pagani, Bruna Trazzi ; Buchaim, Rogério Leone ; Cunha, Marcelo Rodrigues da
Source: Pathophysiology. Unidades: FMVZ, FOB
Subjects: DISTROFIA MUSCULAR, CREATINA, MIOPATIAS CONGÊNITAS ESTRUTURAIS
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FERNANDES, Victor Augusto Ramos et al. Evaluation of creatine monohydrate supplementation on the gastrocnemius muscle of mice with muscular dystrophy: a preliminary study. Pathophysiology, v. 32, 2025Tradução . . Disponível em: https://doi.org/10.3390/pathophysiology32010002. Acesso em: 24 abr. 2026.
APA
Fernandes, V. A. R., Santos, G. P. dos, Iatecola, A., Buchaim, D. V., Garcia, I. J. F., Reis, C. H. B., et al. (2025). Evaluation of creatine monohydrate supplementation on the gastrocnemius muscle of mice with muscular dystrophy: a preliminary study. Pathophysiology, 32. doi:10.3390/pathophysiology32010002
NLM
Fernandes VAR, Santos GP dos, Iatecola A, Buchaim DV, Garcia IJF, Reis CHB, Bueno LMM, Pagani BT, Buchaim RL, Cunha MR da. Evaluation of creatine monohydrate supplementation on the gastrocnemius muscle of mice with muscular dystrophy: a preliminary study [Internet]. Pathophysiology. 2025 ; 32[citado 2026 abr. 24 ] Available from: https://doi.org/10.3390/pathophysiology32010002
Vancouver
Fernandes VAR, Santos GP dos, Iatecola A, Buchaim DV, Garcia IJF, Reis CHB, Bueno LMM, Pagani BT, Buchaim RL, Cunha MR da. Evaluation of creatine monohydrate supplementation on the gastrocnemius muscle of mice with muscular dystrophy: a preliminary study [Internet]. Pathophysiology. 2025 ; 32[citado 2026 abr. 24 ] Available from: https://doi.org/10.3390/pathophysiology32010002
Artigo de periodico
Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy (2024)
Nobrega, Paulo Ribeiro; Souza, Jorge Luiz de Brito de; Mauricio, Rebeca Bessa; Paiva, Anderson Rodrigues Brandao de; Dias, Daniel Aguiar; Camelo, Clara Gontijo; Zanoteli, Edmar ; Schlesinger, David; Braga-Neto, Pedro; Moreno, Cristiane Araujo Martins
Source: NEUROLOGICAL SCIENCES. Unidade: FM
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, COMPROMETIMENTO COGNITIVO LEVE, TRANSTORNO DO ESPECTRO AUTISTA, SINAIS E SINTOMAS
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NOBREGA, Paulo Ribeiro et al. Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy. NEUROLOGICAL SCIENCES, v. 45, n. 3, p. 1225-1231, 2024Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/58923. Acesso em: 24 abr. 2026.
APA
Nobrega, P. R., Souza, J. L. de B. de, Mauricio, R. B., Paiva, A. R. B. de, Dias, D. A., Camelo, C. G., et al. (2024). Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy. NEUROLOGICAL SCIENCES, 45( 3), 1225-1231. doi:10.1007/s10072-023-07128-6
NLM
Nobrega PR, Souza JL de B de, Mauricio RB, Paiva ARB de, Dias DA, Camelo CG, Zanoteli E, Schlesinger D, Braga-Neto P, Moreno CAM. Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy [Internet]. NEUROLOGICAL SCIENCES. 2024 ; 45( 3): 1225-1231.[citado 2026 abr. 24 ] Available from: https://observatorio.fm.usp.br/handle/OPI/58923
Vancouver
Nobrega PR, Souza JL de B de, Mauricio RB, Paiva ARB de, Dias DA, Camelo CG, Zanoteli E, Schlesinger D, Braga-Neto P, Moreno CAM. Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy [Internet]. NEUROLOGICAL SCIENCES. 2024 ; 45( 3): 1225-1231.[citado 2026 abr. 24 ] Available from: https://observatorio.fm.usp.br/handle/OPI/58923
Artigo de periodico
Autoantibodies and damage in patients with idiopathic inflammatory myopathies: alongitudinal multicenter study from the MYONET international network (2024)
Espinosa-ortega, Fabricio; Lodin, Karin; Dastmalchi, Maryam; Vencovsky, Jiri; Diederichsen, Louise P.; Shinjo, Samuel Katsuyuki ; Danieli, Maria Giovanna; Selva-o'Callaghan, Albert; Visser, Marianne de; Griger, Zoltan
Source: Seminars in Arthritis and Rheumatism. Unidade: FM
Subjects: AUTOANTICORPOS, ESTUDOS LONGITUDINAIS, MIOPATIAS CONGÊNITAS ESTRUTURAIS
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ESPINOSA-ORTEGA, Fabricio et al. Autoantibodies and damage in patients with idiopathic inflammatory myopathies: alongitudinal multicenter study from the MYONET international network. Seminars in Arthritis and Rheumatism, v. 68, 2024Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/79475. Acesso em: 24 abr. 2026.
APA
Espinosa-ortega, F., Lodin, K., Dastmalchi, M., Vencovsky, J., Diederichsen, L. P., Shinjo, S. K., et al. (2024). Autoantibodies and damage in patients with idiopathic inflammatory myopathies: alongitudinal multicenter study from the MYONET international network. Seminars in Arthritis and Rheumatism, 68. doi:10.1016/j.semarthrit.2024.152529
NLM
Espinosa-ortega F, Lodin K, Dastmalchi M, Vencovsky J, Diederichsen LP, Shinjo SK, Danieli MG, Selva-o'Callaghan A, Visser M de, Griger Z. Autoantibodies and damage in patients with idiopathic inflammatory myopathies: alongitudinal multicenter study from the MYONET international network [Internet]. Seminars in Arthritis and Rheumatism. 2024 ; 68[citado 2026 abr. 24 ] Available from: https://observatorio.fm.usp.br/handle/OPI/79475
Vancouver
Espinosa-ortega F, Lodin K, Dastmalchi M, Vencovsky J, Diederichsen LP, Shinjo SK, Danieli MG, Selva-o'Callaghan A, Visser M de, Griger Z. Autoantibodies and damage in patients with idiopathic inflammatory myopathies: alongitudinal multicenter study from the MYONET international network [Internet]. Seminars in Arthritis and Rheumatism. 2024 ; 68[citado 2026 abr. 24 ] Available from: https://observatorio.fm.usp.br/handle/OPI/79475
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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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 abr. 2026.
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 2026 abr. 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 2026 abr. 24 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57449
Artigo de periodico
Rituximab as a treatment for human immunodeficiency virus-associated nemaline myopathy: What does the literature have to tell us? (2022)
Goncalves Junior, Jucier; Shinjo, Samuel Katsuyuki
Source: World journal of clinical cases. Unidade: FM
Subjects: HIV, MIOPATIAS CONGÊNITAS ESTRUTURAIS, REUMATOLOGIA, TERAPÊUTICA
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GONCALVES JUNIOR, Jucier e SHINJO, Samuel Katsuyuki. Rituximab as a treatment for human immunodeficiency virus-associated nemaline myopathy: What does the literature have to tell us?. World journal of clinical cases, v. 10, n. 4, p. 1454-1456, 2022Tradução . . Disponível em: https://doi.org/10.12998/wjcc.v10.i4.1454. Acesso em: 24 abr. 2026.
APA
Goncalves Junior, J., & Shinjo, S. K. (2022). Rituximab as a treatment for human immunodeficiency virus-associated nemaline myopathy: What does the literature have to tell us? World journal of clinical cases, 10( 4), 1454-1456. doi:10.12998/wjcc.v10.i4.1454
NLM
Goncalves Junior J, Shinjo SK. Rituximab as a treatment for human immunodeficiency virus-associated nemaline myopathy: What does the literature have to tell us? [Internet]. World journal of clinical cases. 2022 ; 10( 4): 1454-1456.[citado 2026 abr. 24 ] Available from: https://doi.org/10.12998/wjcc.v10.i4.1454
Vancouver
Goncalves Junior J, Shinjo SK. Rituximab as a treatment for human immunodeficiency virus-associated nemaline myopathy: What does the literature have to tell us? [Internet]. World journal of clinical cases. 2022 ; 10( 4): 1454-1456.[citado 2026 abr. 24 ] Available from: https://doi.org/10.12998/wjcc.v10.i4.1454
Artigo de periodico
Correction to: effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model (2022)
Comim, Clarissa M; Soares, Jaime A; Alberti, Adriano; Freiberger, Viviane; Ventura, Letícia; Dias, Paula; Schactae, Aryadnne L; Grigollo, Leoberto R; Steckert, Amanda V; Martins, Daniel F; Nodari Junior, Rudy J; Vainzof, Mariz ; Quevedo, João
Source: Neurological Sciences. Unidade: IB
Subjects: DISTROFIA MUSCULAR, DOENÇAS NEUROMUSCULARES, MIOPATIAS CONGÊNITAS ESTRUTURAIS
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COMIM, Clarissa M et al. Correction to: effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model. Neurological Sciences, v. 153, 2022Tradução . . Disponível em: https://doi.org/10.1007/s10072-022-05999-9. Acesso em: 24 abr. 2026.
APA
Comim, C. M., Soares, J. A., Alberti, A., Freiberger, V., Ventura, L., Dias, P., et al. (2022). Correction to: effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model. Neurological Sciences, 153. doi:10.1007/s10072-022-05999-9
NLM
Comim CM, Soares JA, Alberti A, Freiberger V, Ventura L, Dias P, Schactae AL, Grigollo LR, Steckert AV, Martins DF, Nodari Junior RJ, Vainzof M, Quevedo J. Correction to: effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model [Internet]. Neurological Sciences. 2022 ; 153[citado 2026 abr. 24 ] Available from: https://doi.org/10.1007/s10072-022-05999-9
Vancouver
Comim CM, Soares JA, Alberti A, Freiberger V, Ventura L, Dias P, Schactae AL, Grigollo LR, Steckert AV, Martins DF, Nodari Junior RJ, Vainzof M, Quevedo J. Correction to: effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model [Internet]. Neurological Sciences. 2022 ; 153[citado 2026 abr. 24 ] Available from: https://doi.org/10.1007/s10072-022-05999-9
Artigo de periodico
Spinal cord injury-related thermoregulatory impairment masks a fatal malignant hyperthermia crisis: a case report (2022)
Andrade, Pamela V; Souza, Lucas S; Santos, Joilson M; Alves, José F. F; Lutke, Claud; Amaral, Jose L. G; Vainzof, Mariz ; Silva, Helga C. A
Source: Canadian Journal of Anesthesia/Journal canadien d'anesthésie. Unidade: IB
Subjects: DOENÇAS NEUROMUSCULARES, DOENÇAS GENÉTICAS, MIOPATIAS CONGÊNITAS ESTRUTURAIS
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ANDRADE, Pamela V et al. Spinal cord injury-related thermoregulatory impairment masks a fatal malignant hyperthermia crisis: a case report. Canadian Journal of Anesthesia/Journal canadien d'anesthésie, p. 369–373, 2022Tradução . . Disponível em: https://doi.org/10.1007/s12630-021-02170-4. Acesso em: 24 abr. 2026.
APA
Andrade, P. V., Souza, L. S., Santos, J. M., Alves, J. F. F., Lutke, C., Amaral, J. L. G., et al. (2022). Spinal cord injury-related thermoregulatory impairment masks a fatal malignant hyperthermia crisis: a case report. Canadian Journal of Anesthesia/Journal canadien d'anesthésie, 369–373. doi:10.1007/s12630-021-02170-4
NLM
Andrade PV, Souza LS, Santos JM, Alves JFF, Lutke C, Amaral JLG, Vainzof M, Silva HCA. Spinal cord injury-related thermoregulatory impairment masks a fatal malignant hyperthermia crisis: a case report [Internet]. Canadian Journal of Anesthesia/Journal canadien d'anesthésie. 2022 ; 369–373.[citado 2026 abr. 24 ] Available from: https://doi.org/10.1007/s12630-021-02170-4
Vancouver
Andrade PV, Souza LS, Santos JM, Alves JFF, Lutke C, Amaral JLG, Vainzof M, Silva HCA. Spinal cord injury-related thermoregulatory impairment masks a fatal malignant hyperthermia crisis: a case report [Internet]. Canadian Journal of Anesthesia/Journal canadien d'anesthésie. 2022 ; 369–373.[citado 2026 abr. 24 ] Available from: https://doi.org/10.1007/s12630-021-02170-4
Artigo de periodico
The location of disease-causing DES variants determines the severity of phenotype and the morphology of sarcoplasmic aggregates (2022)
Silva, Andre Macedo Serafim; Rodrigo, Patricia; Moreno, Cristiane Araujo Martins ; Mendonca, Rodrigo de Holanda; Estephan, Eduardo de Paula; Camelo, Clara Gontijo; Campos, Eliene Dutra; Dias, Alexandre Torchio; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: Journal of neuropathology and experimental neurology. Unidade: FM
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, FENÓTIPOS, MUTAÇÃO GENÉTICA
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SILVA, Andre Macedo Serafim et al. The location of disease-causing DES variants determines the severity of phenotype and the morphology of sarcoplasmic aggregates. Journal of neuropathology and experimental neurology, v. 81, n. 9, p. 746-757, 2022Tradução . . Disponível em: https://doi.org/10.1093/jnen/nlac063. Acesso em: 24 abr. 2026.
APA
Silva, A. M. S., Rodrigo, P., Moreno, C. A. M., Mendonca, R. de H., Estephan, E. de P., Camelo, C. G., et al. (2022). The location of disease-causing DES variants determines the severity of phenotype and the morphology of sarcoplasmic aggregates. Journal of neuropathology and experimental neurology, 81( 9), 746-757. doi:10.1093/jnen/nlac063
NLM
Silva AMS, Rodrigo P, Moreno CAM, Mendonca R de H, Estephan E de P, Camelo CG, Campos ED, Dias AT, Reed UC, Zanoteli E. The location of disease-causing DES variants determines the severity of phenotype and the morphology of sarcoplasmic aggregates [Internet]. Journal of neuropathology and experimental neurology. 2022 ; 81( 9): 746-757.[citado 2026 abr. 24 ] Available from: https://doi.org/10.1093/jnen/nlac063
Vancouver
Silva AMS, Rodrigo P, Moreno CAM, Mendonca R de H, Estephan E de P, Camelo CG, Campos ED, Dias AT, Reed UC, Zanoteli E. The location of disease-causing DES variants determines the severity of phenotype and the morphology of sarcoplasmic aggregates [Internet]. Journal of neuropathology and experimental neurology. 2022 ; 81( 9): 746-757.[citado 2026 abr. 24 ] Available from: https://doi.org/10.1093/jnen/nlac063
Artigo de periodico
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype (2022)
Shelton, G. Diane ; Minor, Katie M; Vieira, Natassia M; Kunkel, Louis M; Friedenberg, Steven G; Cullen, Jonah N; Guo, Ling T; Zatz, Mayana ; Mickelson, James R
Source: Neuromuscular Disorders. Unidade: IB
Subjects: DISTROFIA MUSCULAR, SEQUENCIAMENTO GENÉTICO, MIOPATIAS CONGÊNITAS ESTRUTURAIS, CÃO GOLDEN RETRIEVER
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SHELTON, G. Diane et al. Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype. Neuromuscular Disorders, v. 32, n. 10, p. 836-841, 2022Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2022.08.001. Acesso em: 24 abr. 2026.
APA
Shelton, G. D., Minor, K. M., Vieira, N. M., Kunkel, L. M., Friedenberg, S. G., Cullen, J. N., et al. (2022). Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype. Neuromuscular Disorders, 32( 10), 836-841. doi:10.1016/j.nmd.2022.08.001
NLM
Shelton GD, Minor KM, Vieira NM, Kunkel LM, Friedenberg SG, Cullen JN, Guo LT, Zatz M, Mickelson JR. Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype [Internet]. Neuromuscular Disorders. 2022 ; 32( 10): 836-841.[citado 2026 abr. 24 ] Available from: https://doi.org/10.1016/j.nmd.2022.08.001
Vancouver
Shelton GD, Minor KM, Vieira NM, Kunkel LM, Friedenberg SG, Cullen JN, Guo LT, Zatz M, Mickelson JR. Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype [Internet]. Neuromuscular Disorders. 2022 ; 32( 10): 836-841.[citado 2026 abr. 24 ] Available from: https://doi.org/10.1016/j.nmd.2022.08.001
Artigo de periodico
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies (2022)
Winckler, Pablo Brea; Chwal, Bruna Cristine; Santos, Marco Antonnio Rocha Dos; Burguez, Daniela; Polese-Bonatto, Marcia; Zanoteli, Edmar ; Siebert, Marina; Vairo, Filippo Pinto e; Chaves, Marcia Lorena Fagundes; Saute, Jonas Alex Morales
Source: Neurological sciences. Unidade: FM
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, DISTROFIA MUSCULAR, DOENÇAS HEREDITÁRIAS
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WINCKLER, Pablo Brea et al. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. Neurological sciences, v. 43, n. 7, p. 4473-4481, 2022Tradução . . Disponível em: https://doi.org/10.1007/s10072-022-05934-y. Acesso em: 24 abr. 2026.
APA
Winckler, P. B., Chwal, B. C., Santos, M. A. R. D., Burguez, D., Polese-Bonatto, M., Zanoteli, E., et al. (2022). Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. Neurological sciences, 43( 7), 4473-4481. doi:10.1007/s10072-022-05934-y
NLM
Winckler PB, Chwal BC, Santos MARD, Burguez D, Polese-Bonatto M, Zanoteli E, Siebert M, Vairo FP e, Chaves MLF, Saute JAM. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies [Internet]. Neurological sciences. 2022 ; 43( 7): 4473-4481.[citado 2026 abr. 24 ] Available from: https://doi.org/10.1007/s10072-022-05934-y
Vancouver
Winckler PB, Chwal BC, Santos MARD, Burguez D, Polese-Bonatto M, Zanoteli E, Siebert M, Vairo FP e, Chaves MLF, Saute JAM. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies [Internet]. Neurological sciences. 2022 ; 43( 7): 4473-4481.[citado 2026 abr. 24 ] Available from: https://doi.org/10.1007/s10072-022-05934-y
Artigo de periodico
Nemaline myopathy in Brazilian patients: molecular and clinical characterization (2022)
Gurgel-Giannetti, Juliana ; Souza, Lucas Santos ; Yamamoto, Guilherme Lopes ; Belisario, Marina; Lazar, Monize; Campos, Wilson; Pavanello, Rita de Cassia Mingroni; Zatz, Mayana ; Reed, Umbertina Conti ; Zanoteli, Edmar ; Oliveira, Acary Souza Bulle ; Lehtokari, Vilma-Lotta; Casella, Erasmo Barbante ; Machado-Costa, Marcela Câmara; Wallgren-Pettersson, Carina; Laing, Nigel G; Nigro, Vincenzo; Vainzof, Mariz
Source: International Journal of Molecular Sciences. Unidades: IB, FM
Subjects: GENÉTICA MÉDICA, DOENÇAS NEUROMUSCULARES, NEUROLOGIA, MIOPATIAS CONGÊNITAS ESTRUTURAIS
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GURGEL-GIANNETTI, Juliana et al. Nemaline myopathy in Brazilian patients: molecular and clinical characterization. International Journal of Molecular Sciences, v. 23, n. 19, 2022Tradução . . Disponível em: https://doi.org/10.3390/ijms231911995. Acesso em: 24 abr. 2026.
APA
Gurgel-Giannetti, J., Souza, L. S., Yamamoto, G. L., Belisario, M., Lazar, M., Campos, W., et al. (2022). Nemaline myopathy in Brazilian patients: molecular and clinical characterization. International Journal of Molecular Sciences, 23( 19). doi:10.3390/ijms231911995
NLM
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello R de CM, Zatz M, Reed UC, Zanoteli E, Oliveira ASB, Lehtokari V-L, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Nemaline myopathy in Brazilian patients: molecular and clinical characterization [Internet]. International Journal of Molecular Sciences. 2022 ; 23( 19):[citado 2026 abr. 24 ] Available from: https://doi.org/10.3390/ijms231911995
Vancouver
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello R de CM, Zatz M, Reed UC, Zanoteli E, Oliveira ASB, Lehtokari V-L, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Nemaline myopathy in Brazilian patients: molecular and clinical characterization [Internet]. International Journal of Molecular Sciences. 2022 ; 23( 19):[citado 2026 abr. 24 ] Available from: https://doi.org/10.3390/ijms231911995
Tese (Doutorado)
Estudo clínico, histológico e molecular de pacientes com miopatias distal e miofibrilar (2022)
Silva, André Macedo Serafim da; Zanoteli, Edmar (Orientador)
Unidade: FM
Assunto: MIOPATIAS CONGÊNITAS ESTRUTURAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SILVA, André Macedo Serafim da. Estudo clínico, histológico e molecular de pacientes com miopatias distal e miofibrilar. 2022. Tese (Doutorado) – Universidade de São Paulo, São Paulo, 2022. Disponível em: https://teses.usp.br/teses/disponiveis/5/5138/tde-24112022-130110/. Acesso em: 24 abr. 2026.
APA
Silva, A. M. S. da. (2022). Estudo clínico, histológico e molecular de pacientes com miopatias distal e miofibrilar (Tese (Doutorado). Universidade de São Paulo, São Paulo. Recuperado de https://teses.usp.br/teses/disponiveis/5/5138/tde-24112022-130110/
NLM
Silva AMS da. Estudo clínico, histológico e molecular de pacientes com miopatias distal e miofibrilar [Internet]. 2022 ;[citado 2026 abr. 24 ] Available from: https://teses.usp.br/teses/disponiveis/5/5138/tde-24112022-130110/
Vancouver
Silva AMS da. Estudo clínico, histológico e molecular de pacientes com miopatias distal e miofibrilar [Internet]. 2022 ;[citado 2026 abr. 24 ] Available from: https://teses.usp.br/teses/disponiveis/5/5138/tde-24112022-130110/
Tese (Doutorado)
Avaliação eletrofisiológica da junção neuromuscular em pacientes com miastenia congênita, miopatia congênita estrutural e miopatia mitocondrial: análise quantitativa (2022)
Caldas, Vitor Marques; Zanoteli, Edmar (Orientador)
Unidade: FM
Subjects: ELETROMIOGRAFIA, MIOPATIAS CONGÊNITAS ESTRUTURAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CALDAS, Vitor Marques. Avaliação eletrofisiológica da junção neuromuscular em pacientes com miastenia congênita, miopatia congênita estrutural e miopatia mitocondrial: análise quantitativa. 2022. Tese (Doutorado) – Universidade de São Paulo, São Paulo, 2022. Disponível em: https://teses.usp.br/teses/disponiveis/5/5138/tde-19012023-134050/. Acesso em: 24 abr. 2026.
APA
Caldas, V. M. (2022). Avaliação eletrofisiológica da junção neuromuscular em pacientes com miastenia congênita, miopatia congênita estrutural e miopatia mitocondrial: análise quantitativa (Tese (Doutorado). Universidade de São Paulo, São Paulo. Recuperado de https://teses.usp.br/teses/disponiveis/5/5138/tde-19012023-134050/
NLM
Caldas VM. Avaliação eletrofisiológica da junção neuromuscular em pacientes com miastenia congênita, miopatia congênita estrutural e miopatia mitocondrial: análise quantitativa [Internet]. 2022 ;[citado 2026 abr. 24 ] Available from: https://teses.usp.br/teses/disponiveis/5/5138/tde-19012023-134050/
Vancouver
Caldas VM. Avaliação eletrofisiológica da junção neuromuscular em pacientes com miastenia congênita, miopatia congênita estrutural e miopatia mitocondrial: análise quantitativa [Internet]. 2022 ;[citado 2026 abr. 24 ] Available from: https://teses.usp.br/teses/disponiveis/5/5138/tde-19012023-134050/
Artigo de periodico
Effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model (2022)
Comim, Clarissa M; Soares, Jaime A; Alberti, Adriano; Freiberger, Viviane; Ventura, Letícia; Dias, Paula; Schactae, Aryadnne L; Grigollo, Leoberto R; Steckert, Amanda V; Martins, Daniel F; Nodari Junior, Rudy J; Vainzof, Mariz ; Quevedo, João
Source: Neurological Sciences. Unidade: IB
Subjects: DISTROFIA MUSCULAR, DOENÇAS NEUROMUSCULARES, MIOPATIAS CONGÊNITAS ESTRUTURAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
COMIM, Clarissa M et al. Effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model. Neurological Sciences, v. 153, 2022Tradução . . Disponível em: https://doi.org/10.1007/s10072-022-05928-w. Acesso em: 24 abr. 2026.
APA
Comim, C. M., Soares, J. A., Alberti, A., Freiberger, V., Ventura, L., Dias, P., et al. (2022). Effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model. Neurological Sciences, 153. doi:10.1007/s10072-022-05928-w
NLM
Comim CM, Soares JA, Alberti A, Freiberger V, Ventura L, Dias P, Schactae AL, Grigollo LR, Steckert AV, Martins DF, Nodari Junior RJ, Vainzof M, Quevedo J. Effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model [Internet]. Neurological Sciences. 2022 ; 153[citado 2026 abr. 24 ] Available from: https://doi.org/10.1007/s10072-022-05928-w
Vancouver
Comim CM, Soares JA, Alberti A, Freiberger V, Ventura L, Dias P, Schactae AL, Grigollo LR, Steckert AV, Martins DF, Nodari Junior RJ, Vainzof M, Quevedo J. Effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model [Internet]. Neurological Sciences. 2022 ; 153[citado 2026 abr. 24 ] Available from: https://doi.org/10.1007/s10072-022-05928-w
Artigo de periodico
Association of three diferent mutations in the CLCN1 Gene Modulating the phenotype in a consanguineous family with myotonia congenita (2021)
Souza, Lucas Santos; Calyjur, Priscila; Ribeiro Jr, Antonio Fernando; Gurgel-Giannetti, Juliana; Pavanello, Rita de Cássia Mingroni; Zatz, Mayana ; Vainzof, Mariz
Source: Journal of Molecular Neuroscience. Unidade: IB
Subjects: DOENÇAS NEUROMUSCULARES, MUTAÇÃO GENÉTICA, MIOPATIAS CONGÊNITAS ESTRUTURAIS, DOENÇAS GENÉTICAS, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SOUZA, Lucas Santos et al. Association of three diferent mutations in the CLCN1 Gene Modulating the phenotype in a consanguineous family with myotonia congenita. Journal of Molecular Neuroscience, n. Ja 2021, 2021Tradução . . Disponível em: https://doi.org/10.1007/s12031-020-01785-4. Acesso em: 24 abr. 2026.
APA
Souza, L. S., Calyjur, P., Ribeiro Jr, A. F., Gurgel-Giannetti, J., Pavanello, R. de C. M., Zatz, M., & Vainzof, M. (2021). Association of three diferent mutations in the CLCN1 Gene Modulating the phenotype in a consanguineous family with myotonia congenita. Journal of Molecular Neuroscience, ( Ja 2021). doi:10.1007/s12031-020-01785-4
NLM
Souza LS, Calyjur P, Ribeiro Jr AF, Gurgel-Giannetti J, Pavanello R de CM, Zatz M, Vainzof M. Association of three diferent mutations in the CLCN1 Gene Modulating the phenotype in a consanguineous family with myotonia congenita [Internet]. Journal of Molecular Neuroscience. 2021 ;( Ja 2021):[citado 2026 abr. 24 ] Available from: https://doi.org/10.1007/s12031-020-01785-4
Vancouver
Souza LS, Calyjur P, Ribeiro Jr AF, Gurgel-Giannetti J, Pavanello R de CM, Zatz M, Vainzof M. Association of three diferent mutations in the CLCN1 Gene Modulating the phenotype in a consanguineous family with myotonia congenita [Internet]. Journal of Molecular Neuroscience. 2021 ;( Ja 2021):[citado 2026 abr. 24 ] Available from: https://doi.org/10.1007/s12031-020-01785-4
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 abr. 2026.
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 2026 abr. 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 2026 abr. 24 ] Available from: https://doi.org/10.1186/s40478-020-01048-8
Artigo de periodico
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients (2020)
Leão, Leonardo Galleni; Souza, Lucas Santos; Nogueira, Letícia; Pavanello, Rita de Cássia Mingroni; Gurgel-Giannetti, Juliana; Reed, Umbertina C; Oliveira, Acary S.B; Cuperman, Thais; Cotta, Ana; Paim, Julia F; Zatz, Mayana ; Vainzof, Mariz
Source: Acta Myologica. Unidades: FM, IB
Subjects: DOENÇAS NEUROMUSCULARES, MUTAÇÃO GENÉTICA, MIOPATIAS CONGÊNITAS ESTRUTURAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LEÃO, Leonardo Galleni et al. Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients. Acta Myologica, v. 39, n. 4, p. 274–282, 2020Tradução . . Disponível em: https://doi.org/10.36185/2532-1900-030. Acesso em: 24 abr. 2026.
APA
Leão, L. G., Souza, L. S., Nogueira, L., Pavanello, R. de C. M., Gurgel-Giannetti, J., Reed, U. C., et al. (2020). Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients. Acta Myologica, 39( 4), 274–282. doi:10.36185/2532-1900-030
NLM
Leão LG, Souza LS, Nogueira L, Pavanello R de CM, Gurgel-Giannetti J, Reed UC, Oliveira ASB, Cuperman T, Cotta A, Paim JF, Zatz M, Vainzof M. Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients [Internet]. Acta Myologica. 2020 ; 39( 4): 274–282.[citado 2026 abr. 24 ] Available from: https://doi.org/10.36185/2532-1900-030
Vancouver
Leão LG, Souza LS, Nogueira L, Pavanello R de CM, Gurgel-Giannetti J, Reed UC, Oliveira ASB, Cuperman T, Cotta A, Paim JF, Zatz M, Vainzof M. Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients [Internet]. Acta Myologica. 2020 ; 39( 4): 274–282.[citado 2026 abr. 24 ] Available from: https://doi.org/10.36185/2532-1900-030
Artigo de periodico
Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases (2020)
Moreno, Cristiane Araujo Martins; Estephan, Eduardo de Paula; Fappi, Alan; Monges, Soledad; Lubieniecki, Fabiana; Abath Neto, Osorio Lopes; Reed, Umbertina Conti ; Donkervoort, Sandra; Harms, Matthew B; Bonnemann, Carsten; Zanoteli, Edmar
Source: Neuromuscular disorders. Unidade: FM
Subjects: BIOPOLÍMEROS, MIOPATIAS CONGÊNITAS ESTRUTURAIS, ESTUDO DE CASO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MORENO, Cristiane Araujo Martins et al. Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases. Neuromuscular disorders, v. 30, n. 1, p. 54-58, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2019.11.001. Acesso em: 24 abr. 2026.
APA
Moreno, C. A. M., Estephan, E. de P., Fappi, A., Monges, S., Lubieniecki, F., Abath Neto, O. L., et al. (2020). Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases. Neuromuscular disorders, 30( 1), 54-58. doi:10.1016/j.nmd.2019.11.001
NLM
Moreno CAM, Estephan E de P, Fappi A, Monges S, Lubieniecki F, Abath Neto OL, Reed UC, Donkervoort S, Harms MB, Bonnemann C, Zanoteli E. Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases [Internet]. Neuromuscular disorders. 2020 ; 30( 1): 54-58.[citado 2026 abr. 24 ] Available from: https://doi.org/10.1016/j.nmd.2019.11.001
Vancouver
Moreno CAM, Estephan E de P, Fappi A, Monges S, Lubieniecki F, Abath Neto OL, Reed UC, Donkervoort S, Harms MB, Bonnemann C, Zanoteli E. Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases [Internet]. Neuromuscular disorders. 2020 ; 30( 1): 54-58.[citado 2026 abr. 24 ] Available from: https://doi.org/10.1016/j.nmd.2019.11.001

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