نتائج البحث - Marcela Câmara Machado‐Costa

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  1. 1
    A novel phenotype Of Zika virus‐related neurological disease: Sensory neuronopathy

    A novel phenotype Of Zika virus‐related neurological disease: Sensory neuronopathy حسب Alberto Martínez, Marcela Câmara Machado Costa, Marco Antônio Caires Novaes, Humberto Castro‐Lima, Anamarli Nucci, Marcondes C. França

    منشور في 2017
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    Artigo
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  2. 2
    Recurrent rhabdomyolysis due to long chain Hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report

    Recurrent rhabdomyolysis due to long chain Hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report حسب Vanessa Siqueira Reis, Joanna Sousa Fonseca Santana, Lara Cordeiro Magalhães, Marcela Camara Machado Costa, Daise Larissa Ribeiro França, Adriele Ribeiro França Viriato, Juliana Silva Almeida Magalhães

    منشور في 2023
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  3. 3
    Spinal muscular atrophy diagnosis in Latin American: the registrame clinical registry

    Spinal muscular atrophy diagnosis in Latin American: the registrame clinical registry حسب Edmar Zanoteli, Elice Carneiro Batista, Marcela Câmara Machado‐Costa, Fernando Suárez Obando In Memoriam, Jaqueline Almeida Pereira, Claudia Rebeca Castiglioni Toledo, Javier Eduardo Linzoain, Juliana Gurgel‐Giannetti, Luiz Vicente Rizzo

    منشور في 2024
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  4. 4
    STAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia

    STAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia حسب Mary Santos Silva, Ricardo Nakamura, Marcia Rosana Arjona, T. Monaco, Mauricio Luiz Malito, Taís Oliveira Sampaio, Samantha Lopes Oliveira, Juliana Silva de Almeida Magalhães, Marcela Câmara Machado‐Costa, Helga Cristina Almeida da Silva

    منشور في 2025
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  5. 5
    MicroRNA as potential biomarker for severity, progression, and therapeutic monitoring in animal models of limb-girdle muscular dystrophy: a systematic review

    MicroRNA as potential biomarker for severity, progression, and therapeutic monitoring in animal models of limb-girdle muscular dystrophy: a systematic review حسب Mayala Thayrine de Jesus Santos Oliveira, Talita Araújo Barbosa da Silva Santana, Marcela Câmara Machado Costa, Grasiely Faccin Borges, Felipe Silva de Miranda, José Slaibi-Filho, Wilson Barros Luiz, Luciene Cristina Gastalho Campos

    منشور في 2023
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    Revisão
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  6. 6
    Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients

    Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients حسب Miguel Mitne‐Neto, Marcela Câmara Machado‐Costa, Maria C. Marchetto, Mário Henrique Bengtson, Claudio A.P. Joazeiro, Hiroshi Tsuda, Hugo J. Bellen, Helga Cristina Almeida da Silva, Acary Souza Bullé Oliveira, Monize Lazar, Alysson R. Muotri, Mayana Zatz

    منشور في 2011
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  7. 7
    Caracterização Clínica e Ecocardiográfica dos Pacientes com ATTR VAL142IIe

    Caracterização Clínica e Ecocardiográfica dos Pacientes com ATTR VAL142IIe حسب Tonnison de Oliveira Silva, Tonnison de Oliveira Silva, Lara Basílio Tavares, Maria Luisa Fialho, Gabriel de Souza Santos Pereira, Everardo Albuquerque Menezes, Elisa Gonçalves Rodrigues, Marcelo Dantas Tavares de Melo, Marcela Câmara Machado Costa, Luiz Eduardo Fonteles Ritt

    منشور في 2025
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  8. 8
    Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

    Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization حسب Juliana Gurgel‐Giannetti, Lucas Santos Souza, Guilherme Lopes Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cássia M. Pavanello, Mayana Zatz, Umbertina C. Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma‐Lotta Lehtokari, Erasmo Barbante Casella, Marcela Câmara Machado‐Costa, Carina Wallgren‐Pettersson, Nigel G. Laing, Vincenzo Nigro, Mariz Vainzof

    منشور في 2022
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  9. 9
    Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

    Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy حسب Edmar Zanoteli, Alexandra Prufer de Queiroz Campos Araújo, Michele Michelin Becker, Clarisse Pereira Dias Drumond Fortes, Marcondes C. França, Marcela Câmara Machado‐Costa, Wilson Marques, Ciro Matsui, Rodrigo Holanda Mendonça, Flávia Nardes, Acary Souza Bullé Oliveira, André Luis Santos Pessoa, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Hélio van der Linden, Juliana Gurgel‐Giannetti

    منشور في 2024
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  10. 10
    A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome

    A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome حسب Eduardo de Paula Estephan, Cláudia Ferreira da Rosa Sobreira, André Cleriston José dos Santos, Pedro José Tomaselli, Wilson Marques, Roberta Paiva Magalhães Ortega, Marcela Câmara Machado Costa, André Macedo Serafim Silva, Rodrigo Holanda Mendonça, Vitor Marques Caldas, Antônio A. Zambon, Osório Lopes Abath Neto, Paulo Eurípedes Marchiori, Carlos Otto Heise, Umbertina Conti Reed, Yoshiteru Azuma, Ana Töpf, Hanns Lochmüller, Edmar Zanoteli

    منشور في 2018
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  11. 11
    Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition

    Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition حسب Marcus Vinícius Pinto, Marcondes C. França, Marcus Vinícius Magno Gonçalves, Marcela Câmara Machado‐Costa, Marcos R. G. de Freitas, Francisco de Assis Aquino Gondim, Carlo Domênico Marrone, Alberto Martínez, Carolina Lavigne Moreira, Osvaldo J. M. Nascimento, Anna Paula Paranhos Miranda Covaleski, Acary Souza Bullé Oliveira, Camila Pupe, Márcia Rodrigues Jardim, Francisco Tellechea Rotta, Rosana Hermínia Scola, Wilson Marques, Márcia Waddington‐Cruz

    منشور في 2023
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  12. 12
    Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition

    Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition حسب Marcus Vinícius Pinto, Marcondes C. França, Marcus Vinícius Magno Gonçalves, Marcela Câmara Machado‐Costa, Marcos R. G. de Freitas, Francisco de Assis Aquino Gondim, Carlo Domênico Marrone, Alberto Martínez, Carolina Lavigne Moreira, Osvaldo J. M. Nascimento, Anna Paula Paranhos Miranda Covaleski, Acary Souza Bullé Oliveira, Camila Pupe, Márcia Rodrigues Jardim, Francisco Tellechea Rotta, Rosana Hermínia Scola, Wilson Marques, Márcia Waddington‐Cruz

    منشور في 2023
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    Conjunto de Dados
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  13. 13
    Clinical and molecular findings in a cohort of <i>ANO5</i>‐related myopathy

    Clinical and molecular findings in a cohort of <i>ANO5</i>‐related myopathy حسب André Macedo Serafim Silva, Antônio R. Coimbra‐Neto, Paulo Victor Sgobbi de Souza, Pablo Brea Winckler, Marcus Vinícius Magno Gonçalves, Eduardo Boiteux Uchôa Cavalcanti, Alzira Alves de Siqueira Carvalho, Cristina Eliza de Macena SOBREIRA, Clara Gontijo Camelo, Rodrigo Holanda Mendonça, Eduardo de Paula Estephan, Umbertina Conti Reed, Marcela Câmara Machado‐Costa, Mário Emílio Teixeira Dourado Júnior, Vanessa Caldeira Pereira, Marcelo Maroco Cruzeiro, Paulo Victor Partezani Helito, Laís Uyeda Aivazoglou, Leonardo Valente de Camargo, Hudson H. Gomes, Amaro J. S. D. Camargo, Wladimir B. V. D. R. Pinto, Bruno de Mattos Lombardi Badia, Luiz H. Libardi, Mario Teruo Yanagiura, Acary Souza Bullé Oliveira, Anamarli Nucci, Jonas Alex Morales Saute, Marcondes Cavalcante França-Junior, Edmar Zanoteli

    منشور في 2019
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  14. 14
    Intragenic variants in the <i>SMN1</i> gene determine the clinical phenotype in 5q spinal muscular atrophy

    Intragenic variants in the <i>SMN1</i> gene determine the clinical phenotype in 5q spinal muscular atrophy حسب Rodrigo Holanda Mendonça, Ciro Matsui, Graziela Jorge Polido, André Macedo Serafim Silva, Leslie Domenici Kulikowski, Alexandre Torchio Dias, Évelin Aline Zanardo, Davi Jorge Fontoura Solla, Juliana Gurgel‐Giannetti, Ana Carolina Monteiro Lessa de Moura, Gabriela Palhares Campolina Sampaio, Acary Souza Bullé Oliveira, Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Eduardo Augusto Gonçalves, Igor Braga Farias, Flávia Nardes, Alexandra Prufer de Queiroz Campos Araújo, Wilson Marques, Pedro José Tomaselli, Mara Dell Ospedale Ribeiro, João Paulo Kitajima, Fabíola Paoli Monteiro, Jonas Alex Morales Saute, Michele Michelin Becker, Maria Luiza Saraiva Pereira, Ana Carolina Brusius‐Facchin, Vanessa van der Linden, Rodrigo Florêncio, André Vinícius Soares Barbosa, Marcela Câmara Machado‐Costa, André Luiz Santos Pessoa, Letícia Silva de Souza, Marcondes C. França, Fernando Kok, Umbertina Conti Reed, Edmar Zanoteli

    منشور في 2020
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  15. 15
    Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

    Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) حسب Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, Isabelle Carvalho, Filipe Andrade Bernardi, Ida Vanessa Döederlein Schwartz, Jonas Alex Morales Saute, Victor Evangelista de Faria Ferraz, Angelina Xavier Acosta, Ney Boa‐Sorte, Domingos Alves, Tatiana Amorim, Gisele Maria Araujo Felix Adjuto, Rosemarie Elizabeth Schimidt Almeida, Flávia Resedá Brandão, Larissa Souza Mario Bueno, Maria Denise Fernandes Carvalho de Andrade, Cristina Cagliari, Maria Terezinha Cardoso, Ellaine Dóris Fernandes Carvalho, Marcela Câmara Machado Costa, Antonette S. El-Husny, Lavínia Schüler‐Faccini, Rodrigo Ambrósio Fock, Rodrigo Florêncio, Marcial Francis Galera, Roberto Giugliani, Liane de Rosso Giuliani, A. S. Grumach, Dafne Dain Gandelman Horovitz, Juan Clinton Llerena-Junior, Chong A. E. Kim, Rayana Elias Maia, Ana Maria Martins, Paula Frassinetti Vasconcelos de Medeiros, Nina Rosa de Castro Musolino, Marcelo Eidi Nita, Henrique Gil da Silva Nunesmaia, Jose Carlison Santos de Oliveira, Wagner José Martins Paiva, Helena Pimentel, Louise Lapagesse de Camargo Pinto, Vânia Mesquita Gadelha Prazeres, Betânia de Freitas Rodrigues Ribeiro, Erlane Marques Ribeiro, Márcia Rodrigues Jardim, Maria José Sparça Salles, Maria Teresa Vieira Sanseverino, Eliane Pereira dos Santos, Mara Lúcia Schmitz Ferreira Santos, Flávia Mori Sarti, Luiz Carlos Santana da Silva, Raquel Tavares Boy da Silva, Carlos Eduardo Steiner, Ana Beatriz Winter Tavares, Thais Bonfim Teixeira, A Vergara, Paulo Ricardo Gazzola Zen, Marcos Guimarães Zuchetti

    منشور في 2022
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  16. 16
    Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

    Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network حسب Bibiana Mello de Oliveira, Filipe Andrade Bernardi, João Baiochi, Mariane Barros Neiva, Milena Artifon, A Vergara, Ana Maria Martins, Anete Sevciovic Grumach, Angelina Xavier Acosta, Antonette Souto El Husny, B. Ribeiro, Camila Ferreira Ramos, Carlos Eduardo Steiner, Chong Ae Kim, Denise Maria Christofolini, Diego Bettiol Yamada, Ellaine Dóris Fernandes Carvalho, Erlane Marques Ribeiro, Fabíola de Arruda Bastos, Faradiba Sarquis Serpa, Flávia Reseda Brandão, Giselle Maria Araujo Felix Adjuto, Isabelle Carvalho, Jonas Alex Morales Saute, Juan Clinton Llerena, Larissa Souza Mario Bueno, Luiz Carlos Santana da Silva, Mara Lúcia Schmitz Ferreira Santos, Marcela Câmara Machado Costa, Marcia Maria Costa Giacon Giusti, Marcial Francis Galera, Márcio Eloi Colombo Filho, Maria Denise Fernandes Carvalho de Andrade, Marisa Ribeiro de Itapema Cardoso, Marilaine Matos de Menezes Ferreira, Michelle Silva Zeny, Milena Coelho Fernandes Caldato, Ney Boa‐Sorte, Nina Rosa de Castro Musolino, Paula Frassinetti Vasconcelos de Medeiros, Paulo Ricardo Gazzola Zen, Raquel Tavares Boy da Silva, Rayana Elias Maia, Rodrigo Ambrósio Fock, Rosemarie Elizabeth Schimidt Almeida, Solange Oliveira Rodrigues Valle, Tatiana Amorim, Thaís Bomfim Teixeira, Vânia Mesquita Gadelha Prazeres, Victor Evangelista de Faria Ferraz, Vinícius Lima, Wagner José Martins Paiva, Ida Vanessa Döederlein Schwartz, Domingos Alves, Têmis Maria Félix, Ângela Melo, Adrya Rafaela da Silva Rocha, Amanda Aragão, Amanda Delfino Braccini, Amanda Maria Schmidt, Ana Mondadori dos Santos, Ana Carolina de Souza e Silva, Ana Lúcia Lei Munhoz Lima, A Scasso, Ana Sofia Oliveira, Arthur Perico, Bárbara da Silva Aniceto, Bárbara Carine Soares Pinheiro, Beatriz Ono Badaró, Beatriz Brasil Braga, Beatriz de Oliveira Chapiesk, Beatriz Pinheiro, Beatriz Pereira, Betânia de Souza Ponce, Bianca Rocha Martins, Blenda Antunes Cacique Curçino de Eça, Bruna de Souza, Brunno Busnardo Paschoalino, Bruno Lassmar Bueno Valadares, C. Oliveira, Camila Ferreira Sales, Carine Pacheco Alexandre, Carla Desengrini Girelli, Carolina Balluz, Carolina de Paiva Farias, Carolina Oliveira Vilemar, C Arrigoni, Costa Passos, Catharine Harumi, Cleber Barbieri, Daniel Prado, Daniela Monteiro, Dhallya Andressa da Silva Cruz, Eduardo de Miranda Batista, Eduardo Lázaro Martins Naves, Elaine Samara Pinheiro Mendes da Silva, E. Teixeira, Fernando Amaral, Frederico Rafael Moreira, Flávia K. Siqueira‐Souza

    منشور في 2024
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