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Artigo de periodico
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy (2023)
Moreno, Cristiane Araujo Martins ; Artilheiro, Mariana Cunha ; Fonseca, Alulin Tácio Quadros Santos Monteiro ; Camelo, Clara Gontijo ; Medeiros, Gisele Chagas de ; Sassi, Fernanda Chiarion ; Andrade, Claudia Regina Furquim de ; Donkervoort, Sandra; Silva, André Macedo Serafim da ; Dalfior Junior, Luiz; Abath Neto, Osório Lopes ; Reed, Umbertina Conti ; Bönnemann, Carsten G; Zanoteli, Edmar
Source: Neurology-genetics. Unidade: FM
Subjects: ARTIGOS DE PERIÓDICOS, GENÉTICA MÉDICA, NEUROLOGIA
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ABNT
MORENO, Cristiane Araujo Martins et al. Clinical Manifestation of Nebulin-Associated Nemaline Myopathy. Neurology-genetics, v. 9, n. 1, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/52990. Acesso em: 18 nov. 2024.
APA
Moreno, C. A. M., Artilheiro, M. C., Fonseca, A. T. Q. S. M., Camelo, C. G., Medeiros, G. C. de, Sassi, F. C., et al. (2023). Clinical Manifestation of Nebulin-Associated Nemaline Myopathy. Neurology-genetics, 9( 1). doi:10.1212/NXG.0000000000200056
NLM
Moreno CAM, Artilheiro MC, Fonseca ATQSM, Camelo CG, Medeiros GC de, Sassi FC, Andrade CRF de, Donkervoort S, Silva AMS da, Dalfior Junior L, Abath Neto OL, Reed UC, Bönnemann CG, Zanoteli E. Clinical Manifestation of Nebulin-Associated Nemaline Myopathy [Internet]. Neurology-genetics. 2023 ; 9( 1):[citado 2024 nov. 18 ] Available from: https://observatorio.fm.usp.br/handle/OPI/52990
Vancouver
Moreno CAM, Artilheiro MC, Fonseca ATQSM, Camelo CG, Medeiros GC de, Sassi FC, Andrade CRF de, Donkervoort S, Silva AMS da, Dalfior Junior L, Abath Neto OL, Reed UC, Bönnemann CG, Zanoteli E. Clinical Manifestation of Nebulin-Associated Nemaline Myopathy [Internet]. Neurology-genetics. 2023 ; 9( 1):[citado 2024 nov. 18 ] Available from: https://observatorio.fm.usp.br/handle/OPI/52990
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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ABNT
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: 18 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. 18 ] 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. 18 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53952
Artigo de periodico
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation (2023)
Camelo, Clara Gontijo ; Artilheiro, Mariana Cunha ; Moreno, Cristiane Araujo Martins ; Ferraciolli, Suely Fazio ; Silva, André Macedo Serafim da ; Fernandes, Tatiana Ribeiro; Lucato, Leandro Tavares ; Rocha, Antônio José; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: Journal of neuromuscular diseases. Unidade: FM
Subjects: DISTROFIA MUSCULAR, MALFORMAÇÕES, CÉREBRO, VARIAÇÃO GENÉTICA
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ABNT
CAMELO, Clara Gontijo et al. Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation. Journal of neuromuscular diseases, v. 10, n. 4, p. 483-492, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/56122. Acesso em: 18 nov. 2024.
APA
Camelo, C. G., Artilheiro, M. C., Moreno, C. A. M., Ferraciolli, S. F., Silva, A. M. S. da, Fernandes, T. R., et al. (2023). Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation. Journal of neuromuscular diseases, 10( 4), 483-492. doi:10.3233/JND-221638
NLM
Camelo CG, Artilheiro MC, Moreno CAM, Ferraciolli SF, Silva AMS da, Fernandes TR, Lucato LT, Rocha AJ, Reed UC, Zanoteli E. Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation [Internet]. Journal of neuromuscular diseases. 2023 ; 10( 4): 483-492.[citado 2024 nov. 18 ] Available from: https://observatorio.fm.usp.br/handle/OPI/56122
Vancouver
Camelo CG, Artilheiro MC, Moreno CAM, Ferraciolli SF, Silva AMS da, Fernandes TR, Lucato LT, Rocha AJ, Reed UC, Zanoteli E. Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation [Internet]. Journal of neuromuscular diseases. 2023 ; 10( 4): 483-492.[citado 2024 nov. 18 ] Available from: https://observatorio.fm.usp.br/handle/OPI/56122
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: 18 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. 18 ] 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. 18 ] Available from: https://doi.org/10.1093/jnen/nlac063
Artigo de periodico
Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders (2022)
Moreno, Cristiane Araujo Martins ; Camelo, Clara Gontijo; Sampaio, Pedro Henrique Marte de Arruda; Fonseca, Alulin Tacio Quadros Santos Monteiro; Estephan, Eduardo de Paula; Silva, Andre Macedo Serafim; Pirola, Renann Nunes; Silva, Luiz Henrique Libardi; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: Arquivos de Neuro-Psiquiatria. Unidade: FM
Subjects: COVID-19, ISOLAMENTO SOCIAL, MODO DE VIDA, PANDEMIAS
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ABNT
MORENO, Cristiane Araujo Martins et al. Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders. Arquivos de Neuro-Psiquiatria, v. 80, n. 6, p. 563-569, 2022Tradução . . Disponível em: https://doi.org/10.1590/0004-282X-ANP-2021-0166. Acesso em: 18 nov. 2024.
APA
Moreno, C. A. M., Camelo, C. G., Sampaio, P. H. M. de A., Fonseca, A. T. Q. S. M., Estephan, E. de P., Silva, A. M. S., et al. (2022). Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders. Arquivos de Neuro-Psiquiatria, 80( 6), 563-569. doi:10.1590/0004-282X-ANP-2021-0166
NLM
Moreno CAM, Camelo CG, Sampaio PHM de A, Fonseca ATQSM, Estephan E de P, Silva AMS, Pirola RN, Silva LHL, Reed UC, Zanoteli E. Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders [Internet]. Arquivos de Neuro-Psiquiatria. 2022 ; 80( 6): 563-569.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1590/0004-282X-ANP-2021-0166
Vancouver
Moreno CAM, Camelo CG, Sampaio PHM de A, Fonseca ATQSM, Estephan E de P, Silva AMS, Pirola RN, Silva LHL, Reed UC, Zanoteli E. Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders [Internet]. Arquivos de Neuro-Psiquiatria. 2022 ; 80( 6): 563-569.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1590/0004-282X-ANP-2021-0166
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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ABNT
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: 18 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. 18 ] 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. 18 ] Available from: https://doi.org/10.1111/ene.15173
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: 18 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. 18 ] 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. 18 ] Available from: https://doi.org/10.3390/ijms231911995
Parte de monografia/livro
Distrofias musculares e miopatias congênitas (2021)
Zanoteli, Edmar ; Reed, Umbertina Conti
Source: Neurologia. Unidade: FM
Subjects: MANIFESTAÇÕES NEUROMUSCULARES, DOENÇAS NEUROMUSCULARES
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ABNT
ZANOTELI, Edmar e REED, Umbertina Conti. Distrofias musculares e miopatias congênitas. Neurologia. Tradução . Rio de Janeiro: Atheneu, 2021. . . Acesso em: 18 nov. 2024.
APA
Zanoteli, E., & Reed, U. C. (2021). Distrofias musculares e miopatias congênitas. In Neurologia. Rio de Janeiro: Atheneu.
NLM
Zanoteli E, Reed UC. Distrofias musculares e miopatias congênitas. In: Neurologia. Rio de Janeiro: Atheneu; 2021. [citado 2024 nov. 18 ]
Vancouver
Zanoteli E, Reed UC. Distrofias musculares e miopatias congênitas. In: Neurologia. Rio de Janeiro: Atheneu; 2021. [citado 2024 nov. 18 ]
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
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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: 18 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. 18 ] 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. 18 ] Available from: https://doi.org/10.1016/j.nmd.2019.11.001
Artigo de periodico
Time Interval between First and Last Epileptic Seizures and Electroencephalogram Normalization in Benign Childhood Epilepsy with Centrotemporal Spikes: Influencing Factors (2020)
Miziara, Carmen Silvia Molleis Galego; Micheletto, Maria Laura Jorge; Serrano, Virginia Aparecida Gelmeti; Nakanishi, Denise Harumi; Serinolli, Mario Ivo; Manreza, Maria Luiza Giraldes de; Reed, Umbertina Conti
Source: Journal of pediatric epilepsy. Unidade: FM
Subjects: ELETROENCEFALOGRAFIA, EPILEPSIA, HISTÓRIA NATURAL DAS DOENÇAS, REGISTROS MÉDICOS
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ABNT
MIZIARA, Carmen Silvia Molleis Galego et al. Time Interval between First and Last Epileptic Seizures and Electroencephalogram Normalization in Benign Childhood Epilepsy with Centrotemporal Spikes: Influencing Factors. Journal of pediatric epilepsy, v. 9, n. 02, p. 31-35, 2020Tradução . . Disponível em: https://doi.org/10.1055/s-0040-1709187. Acesso em: 18 nov. 2024.
APA
Miziara, C. S. M. G., Micheletto, M. L. J., Serrano, V. A. G., Nakanishi, D. H., Serinolli, M. I., Manreza, M. L. G. de, & Reed, U. C. (2020). Time Interval between First and Last Epileptic Seizures and Electroencephalogram Normalization in Benign Childhood Epilepsy with Centrotemporal Spikes: Influencing Factors. Journal of pediatric epilepsy, 9( 02), 31-35. doi:10.1055/s-0040-1709187
NLM
Miziara CSMG, Micheletto MLJ, Serrano VAG, Nakanishi DH, Serinolli MI, Manreza MLG de, Reed UC. Time Interval between First and Last Epileptic Seizures and Electroencephalogram Normalization in Benign Childhood Epilepsy with Centrotemporal Spikes: Influencing Factors [Internet]. Journal of pediatric epilepsy. 2020 ; 9( 02): 31-35.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1055/s-0040-1709187
Vancouver
Miziara CSMG, Micheletto MLJ, Serrano VAG, Nakanishi DH, Serinolli MI, Manreza MLG de, Reed UC. Time Interval between First and Last Epileptic Seizures and Electroencephalogram Normalization in Benign Childhood Epilepsy with Centrotemporal Spikes: Influencing Factors [Internet]. Journal of pediatric epilepsy. 2020 ; 9( 02): 31-35.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1055/s-0040-1709187
Artigo de periodico
Clinical features of collagen VI-related dystrophies: a large Brazilian cohort (2020)
Zanoteli, Edmar ; Soares, Priscilla Souza; Silva, Andre Macedo Serafim da; Camelo, Clara Gontijo; Fonseca, Alulin Tacio Quadros Santos Monteiro; Albuquerque, Marco Antinio Veloso; Moreno, Cristiane Araujo Martins ; Abath Neto, Osorio Lopes; Novo Filho, Gil Monteiro; Kulikowski, Leslie Domenici; Reed, Umbertina Conti
Source: Clinical neurology and neurosurgery. Unidade: FM
Subjects: DOENÇAS MUSCULARES, COLÁGENO, DISTROFIA MUSCULAR
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ABNT
ZANOTELI, Edmar et al. Clinical features of collagen VI-related dystrophies: a large Brazilian cohort. Clinical neurology and neurosurgery, v. 192, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.clineuro.2020.105734. Acesso em: 18 nov. 2024.
APA
Zanoteli, E., Soares, P. S., Silva, A. M. S. da, Camelo, C. G., Fonseca, A. T. Q. S. M., Albuquerque, M. A. V., et al. (2020). Clinical features of collagen VI-related dystrophies: a large Brazilian cohort. Clinical neurology and neurosurgery, 192. doi:10.1016/j.clineuro.2020.105734
NLM
Zanoteli E, Soares PS, Silva AMS da, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Abath Neto OL, Novo Filho GM, Kulikowski LD, Reed UC. Clinical features of collagen VI-related dystrophies: a large Brazilian cohort [Internet]. Clinical neurology and neurosurgery. 2020 ; 192[citado 2024 nov. 18 ] Available from: https://doi.org/10.1016/j.clineuro.2020.105734
Vancouver
Zanoteli E, Soares PS, Silva AMS da, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Abath Neto OL, Novo Filho GM, Kulikowski LD, Reed UC. Clinical features of collagen VI-related dystrophies: a large Brazilian cohort [Internet]. Clinical neurology and neurosurgery. 2020 ; 192[citado 2024 nov. 18 ] Available from: https://doi.org/10.1016/j.clineuro.2020.105734
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: 18 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. 18 ] 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. 18 ] Available from: https://doi.org/10.1212/NXG.0000000000000505
Artigo de periodico
Combining neuropsychological tests to improve the assessment of arithmetic difficulties in children with ADHD (2020)
Rezende, Angelo R. T; Pacheco, Sandra P; Branco, Sulamy C. C; Fernandes, Rosangela D. C; Boldrini, Carla R; Doria Filho, Ulysses; Bazan, Paulo R; Amaro Junior, Edson ; Reed, Umbertina Conti ; Casella, Erasmo Barbante
Source: Arquivos de Neuro-Psiquiatria. Unidade: FM
Subjects: TRANSTORNO DO DEFICIT DE ATENÇÃO COM HIPERATIVIDADE, ESTIMULANTES DO SISTEMA NERVOSO CENTRAL, TESTES NEUROPSICOLÓGICOS
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ABNT
REZENDE, Angelo R. T et al. Combining neuropsychological tests to improve the assessment of arithmetic difficulties in children with ADHD. Arquivos de Neuro-Psiquiatria, v. 78, n. 4, p. 193-198, 2020Tradução . . Disponível em: https://doi.org/10.1590/0004-282X20190178. Acesso em: 18 nov. 2024.
APA
Rezende, A. R. T., Pacheco, S. P., Branco, S. C. C., Fernandes, R. D. C., Boldrini, C. R., Doria Filho, U., et al. (2020). Combining neuropsychological tests to improve the assessment of arithmetic difficulties in children with ADHD. Arquivos de Neuro-Psiquiatria, 78( 4), 193-198. doi:10.1590/0004-282X20190178
NLM
Rezende ART, Pacheco SP, Branco SCC, Fernandes RDC, Boldrini CR, Doria Filho U, Bazan PR, Amaro Junior E, Reed UC, Casella EB. Combining neuropsychological tests to improve the assessment of arithmetic difficulties in children with ADHD [Internet]. Arquivos de Neuro-Psiquiatria. 2020 ; 78( 4): 193-198.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1590/0004-282X20190178
Vancouver
Rezende ART, Pacheco SP, Branco SCC, Fernandes RDC, Boldrini CR, Doria Filho U, Bazan PR, Amaro Junior E, Reed UC, Casella EB. Combining neuropsychological tests to improve the assessment of arithmetic difficulties in children with ADHD [Internet]. Arquivos de Neuro-Psiquiatria. 2020 ; 78( 4): 193-198.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1590/0004-282X20190178
Artigo de periodico
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients (2020)
Leão, Leonardo Galleni; Souza, Lucas Santos; Nogueira, Letícia; Pavanello, Rita de Cássia Mingroni; Gurgel-Giannetti, Juliana; Reed, Umbertina C; Oliveira, Acary S.B; Cuperman, Thais; Cotta, Ana; Paim, Julia F; Zatz, Mayana ; Vainzof, Mariz
Source: Acta Myologica. Unidades: FM, IB
Subjects: DOENÇAS NEUROMUSCULARES, MUTAÇÃO GENÉTICA, MIOPATIAS CONGÊNITAS ESTRUTURAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LEÃO, Leonardo Galleni et al. Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients. Acta Myologica, v. 39, n. 4, p. 274–282, 2020Tradução . . Disponível em: https://doi.org/10.36185/2532-1900-030. Acesso em: 18 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. 18 ] 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. 18 ] Available from: https://doi.org/10.36185/2532-1900-030
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 18 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. 18 ] 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. 18 ] 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: 18 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. 18 ] 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. 18 ] Available from: https://doi.org/10.1002/ana.25597
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: 18 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. 18 ] 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. 18 ] Available from: https://doi.org/10.1002/ana.25549
Artigo de periodico
Cognitive performance of children with spinal muscular atrophy: a systematic review (2019)
Polido, Graziela Jorge; Miranda, Mariana Mangini Vaz de; Carvas Junior, Nelson; Mendonça, Rodrigo de Holanda; Caromano, Fátima Aparecida ; Reed, Umbertina Conti ; Zanoteli, Edmar ; Voos, Mariana Callil
Source: Dementia & neuropsychologia. Unidade: FM
Subjects: ATROFIA MUSCULAR, MEDULA ESPINHAL, COGNIÇÃO, TRANSTORNOS COGNITIVOS, CRIANÇAS, REVISÃO SISTEMÁTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
POLIDO, Graziela Jorge et al. Cognitive performance of children with spinal muscular atrophy: a systematic review. Dementia & neuropsychologia, v. 13, n. 4, p. 436-443, 2019Tradução . . Disponível em: https://doi.org/10.1590/1980-57642018dn13-040011. Acesso em: 18 nov. 2024.
APA
Polido, G. J., Miranda, M. M. V. de, Carvas Junior, N., Mendonça, R. de H., Caromano, F. A., Reed, U. C., et al. (2019). Cognitive performance of children with spinal muscular atrophy: a systematic review. Dementia & neuropsychologia, 13( 4), 436-443. doi:10.1590/1980-57642018dn13-040011
NLM
Polido GJ, Miranda MMV de, Carvas Junior N, Mendonça R de H, Caromano FA, Reed UC, Zanoteli E, Voos MC. Cognitive performance of children with spinal muscular atrophy: a systematic review [Internet]. Dementia & neuropsychologia. 2019 ; 13( 4): 436-443.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1590/1980-57642018dn13-040011
Vancouver
Polido GJ, Miranda MMV de, Carvas Junior N, Mendonça R de H, Caromano FA, Reed UC, Zanoteli E, Voos MC. Cognitive performance of children with spinal muscular atrophy: a systematic review [Internet]. Dementia & neuropsychologia. 2019 ; 13( 4): 436-443.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1590/1980-57642018dn13-040011
Artigo de periodico
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations (2019)
Cruz, Pedro M. Rodriguez; Cossins, Judith; Estephan, Eduardo de Paula; Munell, Francina; Selby, Kathryn; Hirano, Michio; Maroofin, Reza; Mehrjardi, Mohammad Yahya Vahidi; Zanoteli, Edmar ; Reed, Umbertina Conti
Source: Brain. Unidade: FM
Subjects: DOENÇAS DA JUNÇÃO NEUROMUSCULAR, PROTEÍNAS DE MATRIZ EXTRACELULARES, SINAPSE, MUTAÇÃO GENÉTICA, RECEPTORES ADRENÉRGICOS, AMINAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CRUZ, Pedro M. Rodriguez et al. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain, v. 142, p. 1547-1560, 2019Tradução . . Disponível em: https://doi.org/10.1093/brain/awz107. Acesso em: 18 nov. 2024.
APA
Cruz, P. M. R., Cossins, J., Estephan, E. de P., Munell, F., Selby, K., Hirano, M., et al. (2019). The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain, 142, 1547-1560. doi:10.1093/brain/awz107
NLM
Cruz PMR, Cossins J, Estephan E de P, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Zanoteli E, Reed UC. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations [Internet]. Brain. 2019 ; 142 1547-1560.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1093/brain/awz107
Vancouver
Cruz PMR, Cossins J, Estephan E de P, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Zanoteli E, Reed UC. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations [Internet]. Brain. 2019 ; 142 1547-1560.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1093/brain/awz107
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: 18 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. 18 ] 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. 18 ] Available from: https://doi.org/10.1002/acn3.50801

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