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Artigo de periodico
Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy (2023)
Moreira, Ana Lucila ; Mendonça, Rodrigo de Holanda ; Polido, Graziela Jorge ; Oliveira, Marcos Castello Barbosa de ; Silva, André Macedo Serafim da ; Zanoteli, Edmar
Source: Ultrasound in medicine and biology. Unidade: FM
Subjects: ATROFIA MUSCULAR, ULTRASSONOGRAFIA, DOENÇAS DEGENERATIVAS
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ABNT
MOREIRA, Ana Lucila et al. Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy. Ultrasound in medicine and biology, v. 49, n. 7, p. 1569-1574, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/56114. Acesso em: 11 nov. 2024.
APA
Moreira, A. L., Mendonça, R. de H., Polido, G. J., Oliveira, M. C. B. de, Silva, A. M. S. da, & Zanoteli, E. (2023). Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy. Ultrasound in medicine and biology, 49( 7), 1569-1574. doi:10.1016/j.ultrasmedbio.2023.02.021
NLM
Moreira AL, Mendonça R de H, Polido GJ, Oliveira MCB de, Silva AMS da, Zanoteli E. Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy [Internet]. Ultrasound in medicine and biology. 2023 ; 49( 7): 1569-1574.[citado 2024 nov. 11 ] Available from: https://observatorio.fm.usp.br/handle/OPI/56114
Vancouver
Moreira AL, Mendonça R de H, Polido GJ, Oliveira MCB de, Silva AMS da, Zanoteli E. Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy [Internet]. Ultrasound in medicine and biology. 2023 ; 49( 7): 1569-1574.[citado 2024 nov. 11 ] Available from: https://observatorio.fm.usp.br/handle/OPI/56114
Artigo de periodico
Hypoglycemia in Patients With LAMA2-CMD (2023)
Camelo, Clara Gontijo; Moreno, Cristiane de Araujo Martins; Artilheiro, Mariana Cunha; Silva, Andre Macedo Serafim; Fonseca, Alulin Tacio Quadros Monteiro; Holanda, Rodrigo Mendonca de; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: Pediatric neurology. Unidade: FM
Subjects: HIPOGLICEMIA, FATORES DE RISCO, ESTUDOS RETROSPECTIVOS
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CAMELO, Clara Gontijo et al. Hypoglycemia in Patients With LAMA2-CMD. Pediatric neurology, v. 143, p. 1-5, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/53952. Acesso em: 11 nov. 2024.
APA
Camelo, C. G., Moreno, C. de A. M., Artilheiro, M. C., Silva, A. M. S., Fonseca, A. T. Q. M., Holanda, R. M. de, et al. (2023). Hypoglycemia in Patients With LAMA2-CMD. Pediatric neurology, 143, 1-5. doi:10.1016/j.pediatrneurol.2023.01.017
NLM
Camelo CG, Moreno C de AM, Artilheiro MC, Silva AMS, Fonseca ATQM, Holanda RM de, Reed UC, Zanoteli E. Hypoglycemia in Patients With LAMA2-CMD [Internet]. Pediatric neurology. 2023 ; 143 1-5.[citado 2024 nov. 11 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53952
Vancouver
Camelo CG, Moreno C de AM, Artilheiro MC, Silva AMS, Fonseca ATQM, Holanda RM de, Reed UC, Zanoteli E. Hypoglycemia in Patients With LAMA2-CMD [Internet]. Pediatric neurology. 2023 ; 143 1-5.[citado 2024 nov. 11 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53952
Artigo de periodico
Juvenile Gerstmann-Straussler-Scheinker Disease Mimicking Anticipation Phenomenon (2023)
Silva, Thiago Yoshinaga Tonholo; Marques, Marcos Vinicius Oliveira; Zanoteli, Edmar ; Pedroso, Jose Luiz; Barsottini, Orlando Graziani Povoas
Source: MOVEMENT DISORDERS CLINICAL PRACTICE. Unidade: FM
Subjects: CEREBELO, ATAXIA
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SILVA, Thiago Yoshinaga Tonholo et al. Juvenile Gerstmann-Straussler-Scheinker Disease Mimicking Anticipation Phenomenon. MOVEMENT DISORDERS CLINICAL PRACTICE, v. 10, n. 11, p. 1700-1702, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/57971. Acesso em: 11 nov. 2024.
APA
Silva, T. Y. T., Marques, M. V. O., Zanoteli, E., Pedroso, J. L., & Barsottini, O. G. P. (2023). Juvenile Gerstmann-Straussler-Scheinker Disease Mimicking Anticipation Phenomenon. MOVEMENT DISORDERS CLINICAL PRACTICE, 10( 11), 1700-1702. doi:10.1002/mdc3.13878
NLM
Silva TYT, Marques MVO, Zanoteli E, Pedroso JL, Barsottini OGP. Juvenile Gerstmann-Straussler-Scheinker Disease Mimicking Anticipation Phenomenon [Internet]. MOVEMENT DISORDERS CLINICAL PRACTICE. 2023 ; 10( 11): 1700-1702.[citado 2024 nov. 11 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57971
Vancouver
Silva TYT, Marques MVO, Zanoteli E, Pedroso JL, Barsottini OGP. Juvenile Gerstmann-Straussler-Scheinker Disease Mimicking Anticipation Phenomenon [Internet]. MOVEMENT DISORDERS CLINICAL PRACTICE. 2023 ; 10( 11): 1700-1702.[citado 2024 nov. 11 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57971
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: 11 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. 11 ] 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. 11 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57449
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: 11 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. 11 ] 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. 11 ] Available from: https://doi.org/10.1093/jnen/nlac063
Artigo de periodico
Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis (2022)
Estephan, Eduardo P; Zambon, Antonio A; Thompson, Rachel; Polavarapu, Kiran; Jomaa, Danny; Topf, Ana; Helito, Paulo V. P; Moreno, Cristiane Araujo Martins ; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: European journal of neurology. Unidade: FM
Subjects: DOENÇAS NEUROMUSCULARES, MIASTENIA GRAVIS, IMAGEM POR RESSONÂNCIA MAGNÉTICA, DIAGNÓSTICO POR IMAGEM
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ESTEPHAN, Eduardo P et al. Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis. European journal of neurology, v. 29, n. 3, p. 833-842, 2022Tradução . . Disponível em: https://doi.org/10.1111/ene.15173. Acesso em: 11 nov. 2024.
APA
Estephan, E. P., Zambon, A. A., Thompson, R., Polavarapu, K., Jomaa, D., Topf, A., et al. (2022). Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis. European journal of neurology, 29( 3), 833-842. doi:10.1111/ene.15173
NLM
Estephan EP, Zambon AA, Thompson R, Polavarapu K, Jomaa D, Topf A, Helito PVP, Moreno CAM, Reed UC, Zanoteli E. Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis [Internet]. European journal of neurology. 2022 ; 29( 3): 833-842.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1111/ene.15173
Vancouver
Estephan EP, Zambon AA, Thompson R, Polavarapu K, Jomaa D, Topf A, Helito PVP, Moreno CAM, Reed UC, Zanoteli E. Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis [Internet]. European journal of neurology. 2022 ; 29( 3): 833-842.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1111/ene.15173
Artigo de periodico
GGPS1-associated muscular dystrophy with and without hearing loss (2022)
Kaiyrzhanoy, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S; Hosny, Heba; Moreno, Cristiane Araujo Martins ; Phadke, Rahul; Zaharieva, Irina; Gontijo, Clara Camelo; Zanoteli, Edmar
Source: Annals of clinical and translational neurology.
Subjects: SINAIS E SINTOMAS, DISTROFIA MUSCULAR, PERDA AUDITIVA
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ABNT
KAIYRZHANOY, Rauan et al. GGPS1-associated muscular dystrophy with and without hearing loss. Annals of clinical and translational neurology, v. 9, n. 9, p. 1465-1474, 2022Tradução . . Disponível em: https://doi.org/10.1002/acn3.51633. Acesso em: 11 nov. 2024.
APA
Kaiyrzhanoy, R., Perry, L., Rocca, C., Zaki, M. S., Hosny, H., Moreno, C. A. M., et al. (2022). GGPS1-associated muscular dystrophy with and without hearing loss. Annals of clinical and translational neurology, 9( 9), 1465-1474. doi:10.1002/acn3.51633
NLM
Kaiyrzhanoy R, Perry L, Rocca C, Zaki MS, Hosny H, Moreno CAM, Phadke R, Zaharieva I, Gontijo CC, Zanoteli E. GGPS1-associated muscular dystrophy with and without hearing loss [Internet]. Annals of clinical and translational neurology. 2022 ; 9( 9): 1465-1474.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/acn3.51633
Vancouver
Kaiyrzhanoy R, Perry L, Rocca C, Zaki MS, Hosny H, Moreno CAM, Phadke R, Zaharieva I, Gontijo CC, Zanoteli E. GGPS1-associated muscular dystrophy with and without hearing loss [Internet]. Annals of clinical and translational neurology. 2022 ; 9( 9): 1465-1474.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/acn3.51633
Artigo de periodico
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant (2021)
Leoni, Tauana Bernardes; Gonzalez-salazar, Carelis; Rezende, Thiago Junqueira R.; Hernandez, Ana Luisa C.; Mattos, Alexandre Hilario B.; Coimbra Neto, Antonio Rodrigues; Graca, Felipe Franco da; Goncalves, Joao Pedro Nunes; Martinez, Alberto R. M.; Taniguti, Lucas; Kok, Fernando ; Zanoteli, Edmar
Source: Annals of neurology. Unidade: FM
Subjects: DOENÇAS DEGENERATIVAS, PROTEÍNAS DE LIGAÇÃO DO CÁLCIO, IDOSOS, MEIA IDADE, VARIAÇÃO GENÉTICA, RESSONÂNCIA MAGNÉTICA, MUTAÇÃO, SEQUENCIAMENTO GENÉTICO
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ABNT
LEONI, Tauana Bernardes et al. A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant. Annals of neurology, v. 90, n. 2, p. 239-252, 2021Tradução . . Disponível em: https://doi.org/10.1002/ana.26136. Acesso em: 11 nov. 2024.
APA
Leoni, T. B., Gonzalez-salazar, C., Rezende, T. J. R., Hernandez, A. L. C., Mattos, A. H. B., Coimbra Neto, A. R., et al. (2021). A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant. Annals of neurology, 90( 2), 239-252. doi:10.1002/ana.26136
NLM
Leoni TB, Gonzalez-salazar C, Rezende TJR, Hernandez ALC, Mattos AHB, Coimbra Neto AR, Graca FF da, Goncalves JPN, Martinez ARM, Taniguti L, Kok F, Zanoteli E. A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant [Internet]. Annals of neurology. 2021 ; 90( 2): 239-252.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/ana.26136
Vancouver
Leoni TB, Gonzalez-salazar C, Rezende TJR, Hernandez ALC, Mattos AHB, Coimbra Neto AR, Graca FF da, Goncalves JPN, Martinez ARM, Taniguti L, Kok F, Zanoteli E. A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant [Internet]. Annals of neurology. 2021 ; 90( 2): 239-252.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/ana.26136
Artigo de periodico
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls (2021)
Darras, Basil T.; Masson, Riccardo; Mazurkiewicz-beldzinska, Maria; Rose, Kristy; Xiong, Hui; Zanoteli, Edmar ; Baranello, Giovanni; Bruno, Claudio; Vlodavets, Dmitry; Wang, Yi
Source: New england journal of medicine. Unidade: FM
Subjects: ATROFIA MUSCULAR, MEDULA ESPINHAL, LACTENTES, COMPOSTOS ORGÂNICOS, COMPOSTOS HETEROCÍCLICOS, ÍNDICE DE GRAVIDADE DA DOENÇA
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DARRAS, Basil T. et al. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. New england journal of medicine, v. 385, n. 5, p. 427-435, 2021Tradução . . Disponível em: https://doi.org/10.1056/NEJMoa2102047. Acesso em: 11 nov. 2024.
APA
Darras, B. T., Masson, R., Mazurkiewicz-beldzinska, M., Rose, K., Xiong, H., Zanoteli, E., et al. (2021). Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. New england journal of medicine, 385( 5), 427-435. doi:10.1056/NEJMoa2102047
NLM
Darras BT, Masson R, Mazurkiewicz-beldzinska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls [Internet]. New england journal of medicine. 2021 ; 385( 5): 427-435.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1056/NEJMoa2102047
Vancouver
Darras BT, Masson R, Mazurkiewicz-beldzinska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls [Internet]. New england journal of medicine. 2021 ; 385( 5): 427-435.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1056/NEJMoa2102047
Artigo de periodico
The molecular effects of electrical stimulation on the muscle components of the urethra of female rats after trauma by vaginal distention (2020)
Salerno, Gisela R. F; Bortolini, Maria A. T; Gomes, Regina C. T; Feitosa, Suellen M; Simoes, Manuel J; Zanoteli, Edmar ; Castanho, Fernanda L; Castro, Rodrigo A
Source: Neurourology and urodynamics. Unidade: FM
Subjects: ESTIMULAÇÃO ELÉTRICA, VAGINA, RATOS WISTAR, REAÇÃO EM CADEIA POR POLIMERASE, BIOMARCADORES, MÚSCULO ESQUELÉTICO, MÚSCULO LISO, URETRA
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SALERNO, Gisela R. F et al. The molecular effects of electrical stimulation on the muscle components of the urethra of female rats after trauma by vaginal distention. Neurourology and urodynamics, v. 39, n. 2, p. 576-585, 2020Tradução . . Disponível em: https://doi.org/10.1002/nau.24243. Acesso em: 11 nov. 2024.
APA
Salerno, G. R. F., Bortolini, M. A. T., Gomes, R. C. T., Feitosa, S. M., Simoes, M. J., Zanoteli, E., et al. (2020). The molecular effects of electrical stimulation on the muscle components of the urethra of female rats after trauma by vaginal distention. Neurourology and urodynamics, 39( 2), 576-585. doi:10.1002/nau.24243
NLM
Salerno GRF, Bortolini MAT, Gomes RCT, Feitosa SM, Simoes MJ, Zanoteli E, Castanho FL, Castro RA. The molecular effects of electrical stimulation on the muscle components of the urethra of female rats after trauma by vaginal distention [Internet]. Neurourology and urodynamics. 2020 ; 39( 2): 576-585.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/nau.24243
Vancouver
Salerno GRF, Bortolini MAT, Gomes RCT, Feitosa SM, Simoes MJ, Zanoteli E, Castanho FL, Castro RA. The molecular effects of electrical stimulation on the muscle components of the urethra of female rats after trauma by vaginal distention [Internet]. Neurourology and urodynamics. 2020 ; 39( 2): 576-585.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/nau.24243
Artigo de periodico
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy (2020)
Mendonca, Rodrigo de Holanda; Matsui Junior, Ciro; Polido, Graziela Jorge; Silva, Andre Macedo Serafim; Kulikowski, Leslie; Dias, Alexandre Torchio; Zanardo, Evelin Aline; Marques Júnior, Wilson ; Tomaselli, Pedro José; Kok, Fernando ; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: Neurology-genetics. Unidades: FMRP, FM
Subjects: ATROFIA MUSCULAR, FENÓTIPOS, GENES
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ABNT
MENDONCA, Rodrigo de Holanda et al. Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy. Neurology-genetics, v. 6, n. 5, 2020Tradução . . Disponível em: https://doi.org/10.1212/NXG.0000000000000505. Acesso em: 11 nov. 2024.
APA
Mendonca, R. de H., Matsui Junior, C., Polido, G. J., Silva, A. M. S., Kulikowski, L., Dias, A. T., et al. (2020). Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy. Neurology-genetics, 6( 5). doi:10.1212/NXG.0000000000000505
NLM
Mendonca R de H, Matsui Junior C, Polido GJ, Silva AMS, Kulikowski L, Dias AT, Zanardo EA, Marques Júnior W, Tomaselli PJ, Kok F, Reed UC, Zanoteli E. Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy [Internet]. Neurology-genetics. 2020 ; 6( 5):[citado 2024 nov. 11 ] Available from: https://doi.org/10.1212/NXG.0000000000000505
Vancouver
Mendonca R de H, Matsui Junior C, Polido GJ, Silva AMS, Kulikowski L, Dias AT, Zanardo EA, Marques Júnior W, Tomaselli PJ, Kok F, Reed UC, Zanoteli E. Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy [Internet]. Neurology-genetics. 2020 ; 6( 5):[citado 2024 nov. 11 ] Available from: https://doi.org/10.1212/NXG.0000000000000505
Artigo de periodico
Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype (2020)
Souza, Lucas Santos; Almeida, Camila Freitas; Yamamoto, Guilherme Lopes; Pavanello, Rita de Cassia Mingroni; Gurgel-Giannetti, Juliana; Costa, Silvia Souza da; Anequini, Isabela Pessa; Carmo, Silvana Amanda do; Wang, Jaqueline Yu Ting; Zanoteli, Edmar
Source: Neurology-genetics. Unidade: FM
Subjects: FENÓTIPOS, CROMOSSOMO X, GENES, BAÇO
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SOUZA, Lucas Santos et al. Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype. Neurology-genetics, v. 6, n. 5, 2020Tradução . . Disponível em: https://doi.org/10.1212/NXG.0000000000000513. Acesso em: 11 nov. 2024.
APA
Souza, L. S., Almeida, C. F., Yamamoto, G. L., Pavanello, R. de C. M., Gurgel-Giannetti, J., Costa, S. S. da, et al. (2020). Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype. Neurology-genetics, 6( 5). doi:10.1212/NXG.0000000000000513
NLM
Souza LS, Almeida CF, Yamamoto GL, Pavanello R de CM, Gurgel-Giannetti J, Costa SS da, Anequini IP, Carmo SA do, Wang JYT, Zanoteli E. Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype [Internet]. Neurology-genetics. 2020 ; 6( 5):[citado 2024 nov. 11 ] Available from: https://doi.org/10.1212/NXG.0000000000000513
Vancouver
Souza LS, Almeida CF, Yamamoto GL, Pavanello R de CM, Gurgel-Giannetti J, Costa SS da, Anequini IP, Carmo SA do, Wang JYT, Zanoteli E. Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype [Internet]. Neurology-genetics. 2020 ; 6( 5):[citado 2024 nov. 11 ] Available from: https://doi.org/10.1212/NXG.0000000000000513
Artigo de periodico
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy (2019)
Winckler, Pablo B; Silva, Andre M. S. da; Coimbra-Neto, Antonio R; Carvalho, Elmano; Cavalcanti, Eduardo B. U; Sobreira, Claudia F. R; Marrone, Carlo D; Machado-costa, Marcela C; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: Clinical genetics. Unidade: FM
Subjects: DISTROFIA MUSCULAR, DIAGNÓSTICO DIFERENCIAL, GENÓTIPOS, FENÓTIPOS, PROGNÓSTICO
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ABNT
WINCKLER, Pablo B et al. Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. Clinical genetics, v. 96, n. 4, p. 341-353, 2019Tradução . . Disponível em: https://doi.org/10.1111/cge.13597. Acesso em: 11 nov. 2024.
APA
Winckler, P. B., Silva, A. M. S. da, Coimbra-Neto, A. R., Carvalho, E., Cavalcanti, E. B. U., Sobreira, C. F. R., et al. (2019). Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. Clinical genetics, 96( 4), 341-353. doi:10.1111/cge.13597
NLM
Winckler PB, Silva AMS da, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-costa MC, Reed UC, Zanoteli E. Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy [Internet]. Clinical genetics. 2019 ; 96( 4): 341-353.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1111/cge.13597
Vancouver
Winckler PB, Silva AMS da, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-costa MC, Reed UC, Zanoteli E. Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy [Internet]. Clinical genetics. 2019 ; 96( 4): 341-353.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1111/cge.13597
Artigo de periodico-carta/editorial
Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0 [Carta] (2019)
Mendonca, Rodrigo H; Rocha, Antonio J; Lozano-Arango, Andres; Diaz, Astry B; Castiglioni, Claudia; Silva, Andre M. S; Reed, Umbertina Conti ; Kulikowski, Leslie; Paramonov, Ida; Zanoteli, Edmar
Source: Annals of neurology. Unidade: FM
Subjects: ATROFIA MUSCULAR, DOENÇAS DA MEDULA ESPINHAL, DOENÇAS DO SISTEMA NERVOSO CENTRAL, CONVULSÕES, PROTEÍNAS DE TRANSPORTE, APOPTOSE, PROTEÍNAS DO TECIDO NERVOSO, GENES REGULADORES, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MENDONCA, Rodrigo H et al. Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0 [Carta]. Annals of neurology. Hoboken: Faculdade de Medicina, Universidade de São Paulo. Disponível em: https://doi.org/10.1002/ana.25597. Acesso em: 11 nov. 2024. , 2019
APA
Mendonca, R. H., Rocha, A. J., Lozano-Arango, A., Diaz, A. B., Castiglioni, C., Silva, A. M. S., et al. (2019). Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0 [Carta]. Annals of neurology. Hoboken: Faculdade de Medicina, Universidade de São Paulo. doi:10.1002/ana.25597
NLM
Mendonca RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Zanoteli E. Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0 [Carta] [Internet]. Annals of neurology. 2019 ; 86( 5): 803-803.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/ana.25597
Vancouver
Mendonca RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Zanoteli E. Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0 [Carta] [Internet]. Annals of neurology. 2019 ; 86( 5): 803-803.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/ana.25597
Artigo de periodico
Diagnostic imaging of inflammatory myopathies: new concepts and a radiological approach (2019)
Guimaraes, Julio Brandao; Nico, Marcelo A; Omond, Alipio G; Aivazoglou, Lais Uyeda; Jorge, Rafael Baches; Zanoteli, Edmar; Fernandes, Artur R. C
Source: Current rheumatology reports. Unidade: FM
Subjects: MIOSITE, DIAGNÓSTICO POR IMAGEM, IMAGEM POR RESSONÂNCIA MAGNÉTICA, ULTRASSONOGRAFIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUIMARAES, Julio Brandao et al. Diagnostic imaging of inflammatory myopathies: new concepts and a radiological approach. Current rheumatology reports, v. 21, n. 3, 2019Tradução . . Disponível em: https://doi.org/10.1007/s11926-019-0807-z. Acesso em: 11 nov. 2024.
APA
Guimaraes, J. B., Nico, M. A., Omond, A. G., Aivazoglou, L. U., Jorge, R. B., Zanoteli, E., & Fernandes, A. R. C. (2019). Diagnostic imaging of inflammatory myopathies: new concepts and a radiological approach. Current rheumatology reports, 21( 3). doi:10.1007/s11926-019-0807-z
NLM
Guimaraes JB, Nico MA, Omond AG, Aivazoglou LU, Jorge RB, Zanoteli E, Fernandes ARC. Diagnostic imaging of inflammatory myopathies: new concepts and a radiological approach [Internet]. Current rheumatology reports. 2019 ; 21( 3):[citado 2024 nov. 11 ] Available from: https://doi.org/10.1007/s11926-019-0807-z
Vancouver
Guimaraes JB, Nico MA, Omond AG, Aivazoglou LU, Jorge RB, Zanoteli E, Fernandes ARC. Diagnostic imaging of inflammatory myopathies: new concepts and a radiological approach [Internet]. Current rheumatology reports. 2019 ; 21( 3):[citado 2024 nov. 11 ] Available from: https://doi.org/10.1007/s11926-019-0807-z
Artigo de periodico
Severe brain involvement in 5q spinal muscular atrophy type 0 (2019)
Mendonca, Rodrigo H; Rocha, Antonio J; Lozano-arango, Andres; Diaz, Astry B; Castiglioni, Claudia; Silva, Andre M. S; Reed, Umbertina Conti ; Kulikowski, Leslie; Paramonov, Ida; Zanoteli, Edmar
Source: Annals of neurology. Unidade: FM
Subjects: ATROFIA MUSCULAR, ANORMALIDADES DO SISTEMA NERVOSO, SEQUENCIAMENTO GENÉTICO, RESSONÂNCIA MAGNÉTICA, RECÉM-NASCIDO, LACTENTES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MENDONCA, Rodrigo H et al. Severe brain involvement in 5q spinal muscular atrophy type 0. Annals of neurology, v. 86, n. 3, p. 458-462, 2019Tradução . . Disponível em: https://doi.org/10.1002/ana.25549. Acesso em: 11 nov. 2024.
APA
Mendonca, R. H., Rocha, A. J., Lozano-arango, A., Diaz, A. B., Castiglioni, C., Silva, A. M. S., et al. (2019). Severe brain involvement in 5q spinal muscular atrophy type 0. Annals of neurology, 86( 3), 458-462. doi:10.1002/ana.25549
NLM
Mendonca RH, Rocha AJ, Lozano-arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Zanoteli E. Severe brain involvement in 5q spinal muscular atrophy type 0 [Internet]. Annals of neurology. 2019 ; 86( 3): 458-462.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/ana.25549
Vancouver
Mendonca RH, Rocha AJ, Lozano-arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Zanoteli E. Severe brain involvement in 5q spinal muscular atrophy type 0 [Internet]. Annals of neurology. 2019 ; 86( 3): 458-462.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/ana.25549
Artigo de periodico
Clinical and molecular findings in a cohort of ANO5-related myopathy (2019)
Silva, Andre M. S; Coimbra-neto, Antonio R; Souza, Paulo Victor S; Winckler, Pablo B; Goncalves, Marcus V. M; Cavalcanti, Eduardo B. U; Carvalho, Alzira A. D. S; Sobreire, Claudia F. D. R; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: Annals of clinical and translational neurology. Unidade: FM
Subjects: DISTROFIA MUSCULAR, PROTEÍNAS DA MEMBRANA, PROTEÍNAS DE TRANSPORTE, MUTAÇÃO GENÉTICA, DIAGNÓSTICO HISTOLÓGICO, RESSONÂNCIA MAGNÉTICA, ANÁLISE DE SEQUÊNCIA DE DNA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SILVA, Andre M. S et al. Clinical and molecular findings in a cohort of ANO5-related myopathy. Annals of clinical and translational neurology, v. 6, n. 7, p. 1225-1238, 2019Tradução . . Disponível em: https://doi.org/10.1002/acn3.50801. Acesso em: 11 nov. 2024.
APA
Silva, A. M. S., Coimbra-neto, A. R., Souza, P. V. S., Winckler, P. B., Goncalves, M. V. M., Cavalcanti, E. B. U., et al. (2019). Clinical and molecular findings in a cohort of ANO5-related myopathy. Annals of clinical and translational neurology, 6( 7), 1225-1238. doi:10.1002/acn3.50801
NLM
Silva AMS, Coimbra-neto AR, Souza PVS, Winckler PB, Goncalves MVM, Cavalcanti EBU, Carvalho AADS, Sobreire CFDR, Reed UC, Zanoteli E. Clinical and molecular findings in a cohort of ANO5-related myopathy [Internet]. Annals of clinical and translational neurology. 2019 ; 6( 7): 1225-1238.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/acn3.50801
Vancouver
Silva AMS, Coimbra-neto AR, Souza PVS, Winckler PB, Goncalves MVM, Cavalcanti EBU, Carvalho AADS, Sobreire CFDR, Reed UC, Zanoteli E. Clinical and molecular findings in a cohort of ANO5-related myopathy [Internet]. Annals of clinical and translational neurology. 2019 ; 6( 7): 1225-1238.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/acn3.50801
Artigo de periodico
Omega-3 multiple effects increasing glucocorticoid-induced muscle atrophy: autophagic, AMPK and UPS mechanisms (2019)
Fappi, Alan; Neves, Juliana de C.; Kawasaki, Karine A.; Bacelar, Luana; Sanches, Leandro N.; Silva, Felipe P. da; Larina-neto, Rubens; Chadi, Gerson; Zanoteli, Edmar
Source: Physiological reports. Unidade: FM
Subjects: ÁCIDOS GRAXOS OMEGA 3, ATROFIA MUSCULAR, HORMÔNIOS GLICOCORTICOIDES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FAPPI, Alan et al. Omega-3 multiple effects increasing glucocorticoid-induced muscle atrophy: autophagic, AMPK and UPS mechanisms. Physiological reports, v. 7, n. 1, 2019Tradução . . Disponível em: https://doi.org/10.14814/phy2.13966. Acesso em: 11 nov. 2024.
APA
Fappi, A., Neves, J. de C., Kawasaki, K. A., Bacelar, L., Sanches, L. N., Silva, F. P. da, et al. (2019). Omega-3 multiple effects increasing glucocorticoid-induced muscle atrophy: autophagic, AMPK and UPS mechanisms. Physiological reports, 7( 1). doi:10.14814/phy2.13966
NLM
Fappi A, Neves J de C, Kawasaki KA, Bacelar L, Sanches LN, Silva FP da, Larina-neto R, Chadi G, Zanoteli E. Omega-3 multiple effects increasing glucocorticoid-induced muscle atrophy: autophagic, AMPK and UPS mechanisms [Internet]. Physiological reports. 2019 ; 7( 1):[citado 2024 nov. 11 ] Available from: https://doi.org/10.14814/phy2.13966
Vancouver
Fappi A, Neves J de C, Kawasaki KA, Bacelar L, Sanches LN, Silva FP da, Larina-neto R, Chadi G, Zanoteli E. Omega-3 multiple effects increasing glucocorticoid-induced muscle atrophy: autophagic, AMPK and UPS mechanisms [Internet]. Physiological reports. 2019 ; 7( 1):[citado 2024 nov. 11 ] Available from: https://doi.org/10.14814/phy2.13966
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: 11 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. 11 ] 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. 11 ] Available from: https://doi.org/10.1007/s00401-019-02034-8
Artigo de periodico-carta/editorial
Skin Lesions and Multifocal Myositis in a Patient With Rheumatoid Arthritis (2019)
Silva, Andre M. S; Almeida, Hemerli C; Vianna, Maria A. A; Comello, Florencia; Zanoteli, Edmar
Source: Clinical infectious diseases. Unidade: FM
Subjects: ARTRITE REUMATOIDE, MANIFESTAÇÕES CUTÂNEAS, MIOSITE, HISTOPLASMA, INFECÇÕES BACTERIANAS E MICOSES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SILVA, Andre M. S et al. Skin Lesions and Multifocal Myositis in a Patient With Rheumatoid Arthritis. Clinical infectious diseases. Cary: Faculdade de Medicina, Universidade de São Paulo. Disponível em: https://doi.org/10.1093/cid/ciy755. Acesso em: 11 nov. 2024. , 2019
APA
Silva, A. M. S., Almeida, H. C., Vianna, M. A. A., Comello, F., & Zanoteli, E. (2019). Skin Lesions and Multifocal Myositis in a Patient With Rheumatoid Arthritis. Clinical infectious diseases. Cary: Faculdade de Medicina, Universidade de São Paulo. doi:10.1093/cid/ciy755
NLM
Silva AMS, Almeida HC, Vianna MAA, Comello F, Zanoteli E. Skin Lesions and Multifocal Myositis in a Patient With Rheumatoid Arthritis [Internet]. Clinical infectious diseases. 2019 ; 69( 2): 373-375.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1093/cid/ciy755
Vancouver
Silva AMS, Almeida HC, Vianna MAA, Comello F, Zanoteli E. Skin Lesions and Multifocal Myositis in a Patient With Rheumatoid Arthritis [Internet]. Clinical infectious diseases. 2019 ; 69( 2): 373-375.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1093/cid/ciy755

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