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Artigo de periodico
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility (2018)
Zaharieva, Irina T; Sarkozy, Anna; Munot, Pinki; Manzur, Adnan; O'grady, Gina; Rendu, John; Malfatti, Eduardo; Amthor, Helge; Servais, Laurent; Urtizberea, J. Andoni; Zanoteli, Edmar
Source: Human mutation. Unidade: FM
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, HIPERTERMIA MALIGNA, PROTEÍNAS MUSCULARES, CONTRAÇÃO MUSCULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZAHARIEVA, Irina T et al. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human mutation, v. 39, n. 12, p. 1980-1994, 2018Tradução . . Disponível em: https://doi.org/10.1002/humu.23635. Acesso em: 17 nov. 2024.
APA
Zaharieva, I. T., Sarkozy, A., Munot, P., Manzur, A., O'grady, G., Rendu, J., et al. (2018). STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human mutation, 39( 12), 1980-1994. doi:10.1002/humu.23635
NLM
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Zanoteli E. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility [Internet]. Human mutation. 2018 ; 39( 12): 1980-1994.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1002/humu.23635
Vancouver
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Zanoteli E. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility [Internet]. Human mutation. 2018 ; 39( 12): 1980-1994.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1002/humu.23635
Artigo de periodico
A novel complex neurological phenotype due to a homozygous mutation in FDX2 (2018)
Gurgel-giannetti, Juliana; Kok, Fernando
Source: Brain. Unidade: FM
Subjects: FENÓTIPOS, MIOPATIAS CONGÊNITAS ESTRUTURAIS, ATROFIA MUSCULAR, SEQUENCIAMENTO GENÉTICO, IMAGEM POR RESSONÂNCIA MAGNÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GURGEL-GIANNETTI, Juliana e KOK, Fernando. A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain, v. 141, p. 2289-2298, 2018Tradução . . Disponível em: https://doi.org/10.1093/brain/awy172. Acesso em: 17 nov. 2024.
APA
Gurgel-giannetti, J., & Kok, F. (2018). A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain, 141, 2289-2298. doi:10.1093/brain/awy172
NLM
Gurgel-giannetti J, Kok F. A novel complex neurological phenotype due to a homozygous mutation in FDX2 [Internet]. Brain. 2018 ; 141 2289-2298.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1093/brain/awy172
Vancouver
Gurgel-giannetti J, Kok F. A novel complex neurological phenotype due to a homozygous mutation in FDX2 [Internet]. Brain. 2018 ; 141 2289-2298.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1093/brain/awy172
Artigo de periodico
Centronuclear myopathy: advances in genetic understanding and potential for future treatments (2018)
Zanoteli, Edmar
Source: Expert opinion on orphan drugs. Unidade: FM
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, SOBREVIDA, MÚSCULO ESQUELÉTICO, SINAIS E SINTOMAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZANOTELI, Edmar. Centronuclear myopathy: advances in genetic understanding and potential for future treatments. Expert opinion on orphan drugs, v. 6, n. 6, p. 375-384, 2018Tradução . . Disponível em: https://doi.org/10.1080/21678707.2018.1480366. Acesso em: 17 nov. 2024.
APA
Zanoteli, E. (2018). Centronuclear myopathy: advances in genetic understanding and potential for future treatments. Expert opinion on orphan drugs, 6( 6), 375-384. doi:10.1080/21678707.2018.1480366
NLM
Zanoteli E. Centronuclear myopathy: advances in genetic understanding and potential for future treatments [Internet]. Expert opinion on orphan drugs. 2018 ; 6( 6): 375-384.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1080/21678707.2018.1480366
Vancouver
Zanoteli E. Centronuclear myopathy: advances in genetic understanding and potential for future treatments [Internet]. Expert opinion on orphan drugs. 2018 ; 6( 6): 375-384.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1080/21678707.2018.1480366
Artigo de periodico
Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis (2018)
Camargo, Leonardo Valente de; Carvalho, Mary Souza de; Shinjo, Samuel Katsuyuki; Oliveira, Acary Souza Bulle de; Zanoteli, Edmar
Source: Biomed research international. Unidade: FM
Subjects: AUTOANTICORPOS, SINAIS E SINTOMAS, FIBRAS MUSCULARES, SARCOIDOSE, MIOPATIAS CONGÊNITAS ESTRUTURAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CAMARGO, Leonardo Valente de et al. Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis. Biomed research international, 2018Tradução . . Disponível em: https://doi.org/10.1155/2018/5069042. Acesso em: 17 nov. 2024.
APA
Camargo, L. V. de, Carvalho, M. S. de, Shinjo, S. K., Oliveira, A. S. B. de, & Zanoteli, E. (2018). Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis. Biomed research international. doi:10.1155/2018/5069042
NLM
Camargo LV de, Carvalho MS de, Shinjo SK, Oliveira ASB de, Zanoteli E. Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis [Internet]. Biomed research international. 2018 ;[citado 2024 nov. 17 ] Available from: https://doi.org/10.1155/2018/5069042
Vancouver
Camargo LV de, Carvalho MS de, Shinjo SK, Oliveira ASB de, Zanoteli E. Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis [Internet]. Biomed research international. 2018 ;[citado 2024 nov. 17 ] Available from: https://doi.org/10.1155/2018/5069042
Artigo de periodico
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity (2018)
Tordjman, Mickael; Dabaj, Ivana; Laforet, Pascal; Felter, Adrien; Ferreiro, Ana; Biyoukar, Moustafa; Law-ye, Bruno; Zanoteli, Edmar; Castiglioni, Claudia; Rendu, John
Source: European radiology. Unidade: FM
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, DOENÇAS MUSCULARES, IMAGEM POR RESSONÂNCIA MAGNÉTICA, ALGORITMOS PARA IMAGENS, DIAGNÓSTICO DIFERENCIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
TORDJMAN, Mickael et al. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity. European radiology, v. 28, n. 12, p. 5293-5303, 2018Tradução . . Disponível em: https://doi.org/10.1007/s00330-018-5472-5. Acesso em: 17 nov. 2024.
APA
Tordjman, M., Dabaj, I., Laforet, P., Felter, A., Ferreiro, A., Biyoukar, M., et al. (2018). Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity. European radiology, 28( 12), 5293-5303. doi:10.1007/s00330-018-5472-5
NLM
Tordjman M, Dabaj I, Laforet P, Felter A, Ferreiro A, Biyoukar M, Law-ye B, Zanoteli E, Castiglioni C, Rendu J. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity [Internet]. European radiology. 2018 ; 28( 12): 5293-5303.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1007/s00330-018-5472-5
Vancouver
Tordjman M, Dabaj I, Laforet P, Felter A, Ferreiro A, Biyoukar M, Law-ye B, Zanoteli E, Castiglioni C, Rendu J. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity [Internet]. European radiology. 2018 ; 28( 12): 5293-5303.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1007/s00330-018-5472-5
Trabalho de evento-resumo periodico
High frequency of manifesting carriers in the recessive X-linked myotubular myopathy (2018)
Souza, L; Almeida, C; Silva, L; Pavanello, R; Gurgel-Gianneti, J; Zanoteli, E; Zatz, Mayana ; Otto, Paulo A ; Vainzof, Mariz
Source: Neuromuscular Disorders. Conference titles: International Congress of the World Muscle Society - WMS. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, DOENÇAS RARAS, MUTAÇÃO GENÉTICA, DOENÇAS NEUROMUSCULARES, MIOPATIAS CONGÊNITAS ESTRUTURAIS, CROMOSSOMO X
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SOUZA, L et al. High frequency of manifesting carriers in the recessive X-linked myotubular myopathy. Neuromuscular Disorders. London: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1016/j.nmd.2018.06.169. Acesso em: 17 nov. 2024. , 2018
APA
Souza, L., Almeida, C., Silva, L., Pavanello, R., Gurgel-Gianneti, J., Zanoteli, E., et al. (2018). High frequency of manifesting carriers in the recessive X-linked myotubular myopathy. Neuromuscular Disorders. London: Instituto de Biociências, Universidade de São Paulo. doi:10.1016/j.nmd.2018.06.169
NLM
Souza L, Almeida C, Silva L, Pavanello R, Gurgel-Gianneti J, Zanoteli E, Zatz M, Otto PA, Vainzof M. High frequency of manifesting carriers in the recessive X-linked myotubular myopathy [Internet]. Neuromuscular Disorders. 2018 ; 28 S72.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1016/j.nmd.2018.06.169
Vancouver
Souza L, Almeida C, Silva L, Pavanello R, Gurgel-Gianneti J, Zanoteli E, Zatz M, Otto PA, Vainzof M. High frequency of manifesting carriers in the recessive X-linked myotubular myopathy [Internet]. Neuromuscular Disorders. 2018 ; 28 S72.[citado 2024 nov. 17 ] Available from: https://doi.org/10.1016/j.nmd.2018.06.169

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