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Artigo de periodico
A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype (2023)
Rocha, Emanuelle Bianchi da Silva; Rodrigues, Ketteny de Lima ; Montouro, Laura Alonso Matheus ; Coelho, Erica Nogueira ; Kouyoumdjian, Joao Aris ; Kok, Fernando ; Nobrega, Paulo Ribeiro ; Graca, Carla Renata ; Morita, Maria da Penha Ananias; Estephan, Eduardo de Paula
Fonte: Neuromuscular disorders. Unidade: FM
Assuntos: DNA MITOCONDRIAL, MIOPATIAS MITOCONDRIAIS, DOENÇAS RARAS
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ABNT
ROCHA, Emanuelle Bianchi da Silva et al. A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype. Neuromuscular disorders, v. 33, n. 8, p. 692-696, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/57456. Acesso em: 14 out. 2025.
APA
Rocha, E. B. da S., Rodrigues, K. de L., Montouro, L. A. M., Coelho, E. N., Kouyoumdjian, J. A., Kok, F., et al. (2023). A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype. Neuromuscular disorders, 33( 8), 692-696. doi:10.1016/j.nmd.2023.06.004
NLM
Rocha EB da S, Rodrigues K de L, Montouro LAM, Coelho EN, Kouyoumdjian JA, Kok F, Nobrega PR, Graca CR, Morita M da PA, Estephan E de P. A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype [Internet]. Neuromuscular disorders. 2023 ; 33( 8): 692-696.[citado 2025 out. 14 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57456
Vancouver
Rocha EB da S, Rodrigues K de L, Montouro LAM, Coelho EN, Kouyoumdjian JA, Kok F, Nobrega PR, Graca CR, Morita M da PA, Estephan E de P. A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype [Internet]. Neuromuscular disorders. 2023 ; 33( 8): 692-696.[citado 2025 out. 14 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57456
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
Fonte: Neuromuscular disorders. Unidade: FM
Assuntos: BIOPOLÍMEROS, MIOPATIAS CONGÊNITAS ESTRUTURAIS, ESTUDO DE CASO
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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: 14 out. 2025.
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 2025 out. 14 ] 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 2025 out. 14 ] Available from: https://doi.org/10.1016/j.nmd.2019.11.001
Artigo de periodico
214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015 (2019)
Donkervoort, Sandra; Dowling, James J; Laporte, Jocelyn; Macarthur, Daniel; Bonnemann, Carsten G; Beggs, Alan; Bonne, Gisele; Bonnemann, Carsten; Donkervoort, Sandra; Zanoteli, Edmar
Fonte: Neuromuscular disorders. Unidade: FM
Assuntos: DOENÇAS MUSCULARES, COOPERAÇÃO INTERNACIONAL, CONGRESSO INTERNACIONAL, GENÓTIPOS, FENÓTIPOS, TÉCNICAS GENÉTICAS, ESTUDOS DE COORTES
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ABNT
DONKERVOORT, Sandra et al. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscular disorders, v. 29, n. 8, p. 644-650, 2019Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2019.07.002. Acesso em: 14 out. 2025.
APA
Donkervoort, S., Dowling, J. J., Laporte, J., Macarthur, D., Bonnemann, C. G., Beggs, A., et al. (2019). 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscular disorders, 29( 8), 644-650. doi:10.1016/j.nmd.2019.07.002
NLM
Donkervoort S, Dowling JJ, Laporte J, Macarthur D, Bonnemann CG, Beggs A, Bonne G, Bonnemann C, Donkervoort S, Zanoteli E. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015 [Internet]. Neuromuscular disorders. 2019 ; 29( 8): 644-650.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/j.nmd.2019.07.002
Vancouver
Donkervoort S, Dowling JJ, Laporte J, Macarthur D, Bonnemann CG, Beggs A, Bonne G, Bonnemann C, Donkervoort S, Zanoteli E. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015 [Internet]. Neuromuscular disorders. 2019 ; 29( 8): 644-650.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/j.nmd.2019.07.002
Artigo de periodico
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil (2018)
Estephan, Eduardo de Paula; Zambon, Antonio Alberto; Marchiori, Paulo Euripedes; Silva, Andre Macedo Serafim da; Caldas, Vitor Marques; Moreno, Cristiane Araujo Martins; Reed, Umbertina Conti; Horvath, Rita; Topf, Ana; Lochmueller, Hanns
Fonte: Neuromuscular disorders. Unidade: FM
Assuntos: DOENÇAS DA JUNÇÃO NEUROMUSCULAR, RECEPTORES DE ACETILCOLINA, ESTUDOS DE COORTES
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ABNT
ESTEPHAN, Eduardo de Paula et al. Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. Neuromuscular disorders, v. 28, n. 11, p. 961-964, 2018Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2018.08.007. Acesso em: 14 out. 2025.
APA
Estephan, E. de P., Zambon, A. A., Marchiori, P. E., Silva, A. M. S. da, Caldas, V. M., Moreno, C. A. M., et al. (2018). Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. Neuromuscular disorders, 28( 11), 961-964. doi:10.1016/j.nmd.2018.08.007
NLM
Estephan E de P, Zambon AA, Marchiori PE, Silva AMS da, Caldas VM, Moreno CAM, Reed UC, Horvath R, Topf A, Lochmueller H. Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil [Internet]. Neuromuscular disorders. 2018 ; 28( 11): 961-964.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/j.nmd.2018.08.007
Vancouver
Estephan E de P, Zambon AA, Marchiori PE, Silva AMS da, Caldas VM, Moreno CAM, Reed UC, Horvath R, Topf A, Lochmueller H. Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil [Internet]. Neuromuscular disorders. 2018 ; 28( 11): 961-964.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/j.nmd.2018.08.007
Artigo de periodico
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients (2017)
Neto, Osorio Abath; Reed, Umbertina Conti; Zanoteli, Edmar
Fonte: Neuromuscular disorders. Unidade: FM
Assuntos: MIOPATIAS CONGÊNITAS ESTRUTURAIS, HIPERTERMIA MALIGNA, MUTAÇÃO GENÉTICA
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ABNT
NETO, Osorio Abath e REED, Umbertina Conti e ZANOTELI, Edmar. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. Neuromuscular disorders, v. 27, n. 11, p. 975-985, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2017.05.016. Acesso em: 14 out. 2025.
APA
Neto, O. A., Reed, U. C., & Zanoteli, E. (2017). Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. Neuromuscular disorders, 27( 11), 975-985. doi:10.1016/j.nmd.2017.05.016
NLM
Neto OA, Reed UC, Zanoteli E. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients [Internet]. Neuromuscular disorders. 2017 ; 27( 11): 975-985.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/j.nmd.2017.05.016
Vancouver
Neto OA, Reed UC, Zanoteli E. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients [Internet]. Neuromuscular disorders. 2017 ; 27( 11): 975-985.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/j.nmd.2017.05.016
Trabalho de evento-resumo periodico
Facioscapulohumeral muscular dystrophies: poster presentations (2003)
Tonini, M. M. O.; Pavanello, Rita de Cássia M.; Van der Maarel, S.; Frants, R.; Zatz, Mayana
Fonte: Neuromuscular disorders. Nome do evento: International Congress of the World Muscle Society. Unidade: IB
Assunto: DISTROFIA MUSCULAR
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ABNT
TONINI, M. M. O. et al. Facioscapulohumeral muscular dystrophies: poster presentations. Neuromuscular disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 14 out. 2025. , 2003
APA
Tonini, M. M. O., Pavanello, R. de C. M., Van der Maarel, S., Frants, R., & Zatz, M. (2003). Facioscapulohumeral muscular dystrophies: poster presentations. Neuromuscular disorders. Oxford: Instituto de Biociências, Universidade de São Paulo.
NLM
Tonini MMO, Pavanello R de CM, Van der Maarel S, Frants R, Zatz M. Facioscapulohumeral muscular dystrophies: poster presentations. Neuromuscular disorders. 2003 ; 13( 7-8): 632-633.[citado 2025 out. 14 ]
Vancouver
Tonini MMO, Pavanello R de CM, Van der Maarel S, Frants R, Zatz M. Facioscapulohumeral muscular dystrophies: poster presentations. Neuromuscular disorders. 2003 ; 13( 7-8): 632-633.[citado 2025 out. 14 ]
Trabalho de evento-resumo periodico
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy (1998)
Vainzof, Mariz ; Passos-Bueno, Maria Rita ; Pavanello, R C M; Marie, Suely Kazue Nagahashi; Oliveira, A. S. B.; Zatz, Mayana
Fonte: Neuromuscular disorders. Nome do evento: International Congress of the World Muscle Society. Unidade: IB
Assunto: GENÉTICA MÉDICA
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ABNT
VAINZOF, Mariz et al. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy. Neuromuscular disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 14 out. 2025. , 1998
APA
Vainzof, M., Passos-Bueno, M. R., Pavanello, R. C. M., Marie, S. K. N., Oliveira, A. S. B., & Zatz, M. (1998). Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy. Neuromuscular disorders. Oxford: Instituto de Biociências, Universidade de São Paulo.
NLM
Vainzof M, Passos-Bueno MR, Pavanello RCM, Marie SKN, Oliveira ASB, Zatz M. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy. Neuromuscular disorders. 1998 ; 8( 3/4):[citado 2025 out. 14 ]
Vancouver
Vainzof M, Passos-Bueno MR, Pavanello RCM, Marie SKN, Oliveira ASB, Zatz M. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy. Neuromuscular disorders. 1998 ; 8( 3/4):[citado 2025 out. 14 ]

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