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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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] Available from: https://observatorio.fm.usp.br/handle/OPI/58923
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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57449
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
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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://www.teses.usp.br/teses/disponiveis/5/5138/tde-19012023-134050/. Acesso em: 17 nov. 2024.
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://www.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 2024 nov. 17 ] Available from: https://www.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 2024 nov. 17 ] Available from: https://www.teses.usp.br/teses/disponiveis/5/5138/tde-19012023-134050/
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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] Available from: https://doi.org/10.1093/jnen/nlac063
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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] Available from: https://doi.org/10.1007/s12630-021-02170-4
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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ABNT
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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] Available from: https://doi.org/10.12998/wjcc.v10.i4.1454
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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] 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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] Available from: https://doi.org/10.1007/s10072-022-05934-y
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
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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://www.teses.usp.br/teses/disponiveis/5/5138/tde-24112022-130110/. Acesso em: 17 nov. 2024.
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://www.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 2024 nov. 17 ] Available from: https://www.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 2024 nov. 17 ] Available from: https://www.teses.usp.br/teses/disponiveis/5/5138/tde-24112022-130110/
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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ABNT
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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] Available from: https://doi.org/10.1007/s10072-022-05999-9
Artigo de periodico
Nemaline myopathy in Brazilian patients: molecular and clinical characterization (2022)
Gurgel-Giannetti, Juliana; Souza, Lucas Santos; Yamamoto, Guilherme L ; Belisario, Marina; Lazar, Monize; Campos, Wilson; Pavanello, Rita de Cassia M; Zatz, Mayana ; Reed, Umbertina Conti ; Zanoteli, Edmar ; Oliveira, Acary Bulle; Lehtokari, Vilma-Lotta; Casella, Erasmo B; Machado-Costa, Marcela C; 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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ABNT
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: 17 nov. 2024.
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 AB, 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 2024 nov. 17 ] 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 AB, 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 2024 nov. 17 ] Available from: https://doi.org/10.3390/ijms231911995
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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] 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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] Available from: https://doi.org/10.1007/s12031-020-01785-4
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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] Available from: https://doi.org/10.1016/j.nmd.2019.11.001
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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] Available from: https://doi.org/10.1186/s40478-020-01048-8
Artigo de periodico
Effects of aerobic and inspiratory training on skeletal muscle microRNA-1 and downstream-associated pathways in patients with heart failure (2020)
Antunes-Correa, Ligia M.; Trevizan, Patricia F.; Bacurau, Aline V. N.; Ferreira-Santos, Larissa; Gomes, Joao L. P; Urias, Ursula ; Oliveira, Patricia A.; Alves, Maria Janieire N. N.; Almeida, Dirceu R. de; Brum, Patrícia Chakur ; Oliveira, E. M. ; Hajjar, Ludhmila Abrahão ; Kalil Filho, Roberto ; Negrão, Carlos Eduardo
Source: Journal of cachexia, sarcopenia and muscle. Unidades: EEFE, FM
Subjects: TREINAMENTO AERÓBIO, PARADA CARDÍACA, MICRORNAS, MIOPATIAS CONGÊNITAS ESTRUTURAIS, EXERCÍCIOS CARDIO-RESPIRATÓRIOS, MÚSCULOS DO SISTEMA RESPIRATÓRIO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ANTUNES-CORREA, Ligia M. et al. Effects of aerobic and inspiratory training on skeletal muscle microRNA-1 and downstream-associated pathways in patients with heart failure. Journal of cachexia, sarcopenia and muscle, v. fe 2020, n. 1, p. 89-102, 2020Tradução . . Disponível em: https://doi.org/10.1002/jcsm.12495. Acesso em: 17 nov. 2024.
APA
Antunes-Correa, L. M., Trevizan, P. F., Bacurau, A. V. N., Ferreira-Santos, L., Gomes, J. L. P., Urias, U., et al. (2020). Effects of aerobic and inspiratory training on skeletal muscle microRNA-1 and downstream-associated pathways in patients with heart failure. Journal of cachexia, sarcopenia and muscle, fe 2020( 1), 89-102. doi:10.1002/jcsm.12495
NLM
Antunes-Correa LM, Trevizan PF, Bacurau AVN, Ferreira-Santos L, Gomes JLP, Urias U, Oliveira PA, Alves MJNN, Almeida DR de, Brum PC, Oliveira EM, Hajjar LA, Kalil Filho R, Negrão CE. Effects of aerobic and inspiratory training on skeletal muscle microRNA-1 and downstream-associated pathways in patients with heart failure [Internet]. Journal of cachexia, sarcopenia and muscle. 2020 ; fe 2020( 1): 89-102.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1002/jcsm.12495
Vancouver
Antunes-Correa LM, Trevizan PF, Bacurau AVN, Ferreira-Santos L, Gomes JLP, Urias U, Oliveira PA, Alves MJNN, Almeida DR de, Brum PC, Oliveira EM, Hajjar LA, Kalil Filho R, Negrão CE. Effects of aerobic and inspiratory training on skeletal muscle microRNA-1 and downstream-associated pathways in patients with heart failure [Internet]. Journal of cachexia, sarcopenia and muscle. 2020 ; fe 2020( 1): 89-102.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1002/jcsm.12495
Artigo de periodico
Displaced myonuclei in cancer cachexia suggest altered innervation (2020)
Daou, Nissrine; Hassani, Medhi Samy ; Matos Neto, Emídio Marques de ; Castro, Gabriela Salim Ferreira de ; Costa, Raquel Galvão Figuerêdo ; Seelaender, Marília Cerqeira Leite ; Moresi, Viviana ; Rocchi, Marco Bruno Luigi ; Adamo, Sergio ; Li, Zhenlin; Agbulut, Onnik ; Coletti, Dario
Source: International Journal of Molecular Sciences. Unidade: ICB
Subjects: BIOLOGIA CELULAR, CAQUEXIA, FIBRAS MUSCULARES, MIOPATIAS CONGÊNITAS ESTRUTURAIS, DOENÇAS MUSCULOSQUELÉTICAS, CAMUNDONGOS, MÚSCULO ESQUELÉTICO, ATROFIA MUSCULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
DAOU, Nissrine et al. Displaced myonuclei in cancer cachexia suggest altered innervation. International Journal of Molecular Sciences, n. 3, p. 17 , 2020Tradução . . Disponível em: https://doi.org/10.3390/ijms21031092. Acesso em: 17 nov. 2024.
APA
Daou, N., Hassani, M. S., Matos Neto, E. M. de, Castro, G. S. F. de, Costa, R. G. F., Seelaender, M. C. L., et al. (2020). Displaced myonuclei in cancer cachexia suggest altered innervation. International Journal of Molecular Sciences, ( 3), 17 . doi:10.3390/ijms21031092
NLM
Daou N, Hassani MS, Matos Neto EM de, Castro GSF de, Costa RGF, Seelaender MCL, Moresi V, Rocchi MBL, Adamo S, Li Z, Agbulut O, Coletti D. Displaced myonuclei in cancer cachexia suggest altered innervation [Internet]. International Journal of Molecular Sciences. 2020 ;( 3): 17 .[citado 2024 nov. 17 ] Available from: https://doi.org/10.3390/ijms21031092
Vancouver
Daou N, Hassani MS, Matos Neto EM de, Castro GSF de, Costa RGF, Seelaender MCL, Moresi V, Rocchi MBL, Adamo S, Li Z, Agbulut O, Coletti D. Displaced myonuclei in cancer cachexia suggest altered innervation [Internet]. International Journal of Molecular Sciences. 2020 ;( 3): 17 .[citado 2024 nov. 17 ] Available from: https://doi.org/10.3390/ijms21031092
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
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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: 17 nov. 2024.
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 2024 nov. 17 ] 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 2024 nov. 17 ] Available from: https://doi.org/10.36185/2532-1900-030
Artigo de periodico
The Brazilian Society of Rheumatology recommendations on investigation and diagnosis of systemic autoimmune myopathies (2019)
Souza, Fernando Henrique Carlos de; Araujo, Daniel Brito de; Vilela, Veronica Silva; Simoes, Ricardo Santos; Bernardo, Wanderley Marques; Frank, Thais Amanda; Cunha, Bernardo Matos da; Shinjo, Samuel Katsuyuki
Source: Advances in rheumatology. Unidade: FM
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, PRÁTICA CLÍNICA, AUTOANTICORPOS, ELETROMIOGRAFIA, BIÓPSIA, RESSONÂNCIA MAGNÉTICA, COMORBIDADE, REVISÃO SISTEMÁTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SOUZA, Fernando Henrique Carlos de et al. The Brazilian Society of Rheumatology recommendations on investigation and diagnosis of systemic autoimmune myopathies. Advances in rheumatology, v. 59, n. 1, 2019Tradução . . Disponível em: https://doi.org/10.1186/s42358-019-0085-5. Acesso em: 17 nov. 2024.
APA
Souza, F. H. C. de, Araujo, D. B. de, Vilela, V. S., Simoes, R. S., Bernardo, W. M., Frank, T. A., et al. (2019). The Brazilian Society of Rheumatology recommendations on investigation and diagnosis of systemic autoimmune myopathies. Advances in rheumatology, 59( 1). doi:10.1186/s42358-019-0085-5
NLM
Souza FHC de, Araujo DB de, Vilela VS, Simoes RS, Bernardo WM, Frank TA, Cunha BM da, Shinjo SK. The Brazilian Society of Rheumatology recommendations on investigation and diagnosis of systemic autoimmune myopathies [Internet]. Advances in rheumatology. 2019 ; 59( 1):[citado 2024 nov. 17 ] Available from: https://doi.org/10.1186/s42358-019-0085-5
Vancouver
Souza FHC de, Araujo DB de, Vilela VS, Simoes RS, Bernardo WM, Frank TA, Cunha BM da, Shinjo SK. The Brazilian Society of Rheumatology recommendations on investigation and diagnosis of systemic autoimmune myopathies [Internet]. Advances in rheumatology. 2019 ; 59( 1):[citado 2024 nov. 17 ] Available from: https://doi.org/10.1186/s42358-019-0085-5
Artigo de periodico
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy (2019)
Ross, Jacob A; Levy, Yotam; Ripolone, Michela; Kolb, Justin S; Turmaine, Mark; Holt, Mark; Lindqvist, Johan; Claeys, Kristl G; Weis, Joachim; Zanoteli, Edmar
Source: Acta neuropathologica. Unidade: FM
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, DOENÇAS MUSCULOSQUELÉTICAS, CITOESQUELETO, MEMBRANA NUCLEAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROSS, Jacob A et al. Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy. Acta neuropathologica, v. 138, n. 3, p. 477-495, 2019Tradução . . Disponível em: https://doi.org/10.1007/s00401-019-02034-8. Acesso em: 17 nov. 2024.
APA
Ross, J. A., Levy, Y., Ripolone, M., Kolb, J. S., Turmaine, M., Holt, M., et al. (2019). Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy. Acta neuropathologica, 138( 3), 477-495. doi:10.1007/s00401-019-02034-8
NLM
Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Zanoteli E. Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy [Internet]. Acta neuropathologica. 2019 ; 138( 3): 477-495.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1007/s00401-019-02034-8
Vancouver
Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Zanoteli E. Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy [Internet]. Acta neuropathologica. 2019 ; 138( 3): 477-495.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1007/s00401-019-02034-8

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