Search Results - Miguel Mitne‐Neto

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  1. 1
    Análise in vitro da esclerose lateral amiotrófica tipo 8 e estudo genético da paraplegia espástica 4

    Análise in vitro da esclerose lateral amiotrófica tipo 8 e estudo genético da paraplegia espástica 4 by Miguel Mitne‐Neto

    Published 2011
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  2. 2
    Genética e Esclerose Lateral Amiotrófica

    Genética e Esclerose Lateral Amiotrófica by Miguel Mitne‐Neto

    Published 2019
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  3. 3
    Terapia Gênica:

    Terapia Gênica: by Miguel Mitne‐Neto, Mayana Zatz

    Published 1999
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  4. 4
    Additional information offered by single nucleotide polymorphism array advantages in two myelodysplastic syndromes with excess blasts cases and future perspectives

    Additional information offered by single nucleotide polymorphism array advantages in two myelodysplastic syndromes with excess blasts cases and future perspectives by Thiago Rodrigo de Noronha, Miguel Mitne‐Neto, Maria de Lourdes Chauffaille

    Published 2018
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  5. 5
    JAK2-mutated acute myeloid leukemia: comparison of next-generation sequencing (NGS) and single nucleotide polymorphism array (SNPa) findings between two cases

    JAK2-mutated acute myeloid leukemia: comparison of next-generation sequencing (NGS) and single nucleotide polymorphism array (SNPa) findings between two cases by Thiago Rodrigo de Noronha, Miguel Mitne‐Neto, Maria de Lourdes Chauffaille

    Published 2019
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  6. 6
    Stem cells for amyotrophic lateral sclerosis modeling and therapy: Myth or fact?

    Stem cells for amyotrophic lateral sclerosis modeling and therapy: Myth or fact? by Giuliana Castello Coatti, Melinda S. Beccari, Thiago Rosa Olávio, Miguel Mitne‐Neto, Oswaldo Keith Okamoto, Mayana Zatz

    Published 2015
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  7. 7
    Molecular genetic tests for<i>JAK2</i>V617F, Exon12_<i>JAK2</i>and<i>MPL</i>W515K/L are highly informative in the evaluation of patients suspected to have BCR-ABL1-negative myeloproliferative neoplasms

    Molecular genetic tests for<i>JAK2</i>V617F, Exon12_<i>JAK2</i>and<i>MPL</i>W515K/L are highly informative in the evaluation of patients suspected to have BCR-ABL1-negative myelopr... by Marcos Tadeu dos Santos, Miguel Mitne‐Neto, Kozue Miyashiro, Maria de Lourdes Chauffaille, Edgar Gil Rizzatti

    Published 2013
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  8. 8
    Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review

    Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review by Silvia R. Correa‐Silva, Ilda Kunii, Miguel Mitne‐Neto, Caroline Mônaco Moreira, Magnus R. Dias‐da‐Silva, Júlio Abucham

    Published 2022
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  9. 9
    Mitochondrial dysfunction heightens the integrated stress response to drive ALS pathogenesis

    Mitochondrial dysfunction heightens the integrated stress response to drive ALS pathogenesis by Curran Landry, James Costanzo, Miguel Mitne‐Neto, Mayana Zatz, Ashleigh E. Schaffer, Maria Hatzoglou, Alysson R. Muotri, Helen C. Miranda

    Published 2024
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  10. 10
    A Variant Detection Pipeline for Inherited Cardiomyopathy–Associated Genes Using Next-Generation Sequencing

    A Variant Detection Pipeline for Inherited Cardiomyopathy–Associated Genes Using Next-Generation Sequencing by Théo Gremen Mimary de Oliveira, Miguel Mitne‐Neto, Louise Cerdeira, Júlia Daher Carneiro Marsiglia, Edmundo Arteaga-Fernández, José Eduardo Krieger, Alexandre C. Pereira

    Published 2015
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  11. 11
    The p.P56S mutation in the <i>VAPB</i> gene is not due to a single founder: the first European case

    The p.P56S mutation in the <i>VAPB</i> gene is not due to a single founder: the first European case by A. Funke, Marc Esser, Alexander Krüttgen, Joachim Weis, Miguel Mitne‐Neto, Monize Lazar, Agnes L. Nishimura, AD Sperfeld, P Trillenberg, Jan Senderek, Michael Krasnianski, Mayana Zatz, S. Zierz, Marcus Deschauer

    Published 2010
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  12. 12
    A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

    A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis by Agnes L. Nishimura, Miguel Mitne‐Neto, Helga Cristina Almeida da Silva, Antônio Richieri‐Costa, Susan Middleton, Duilio Cascio, Fernando Kok, João Ricardo Mendes de Oliveira, Thomas H. Gillingwater, Jeanette Webb, Paul Skehel, Mayana Zatz

    Published 2004
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  13. 13
    DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland

    DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland by Marina M. L. Kizys, Ruy A. Louzada, Miguel Mitne‐Neto, Jessica R Jara, Gilberto K. Furuzawa, Denise Pires de Carvalho, Magnus R. Dias‐da‐Silva, Suzana Nesi-França, Corinne Dupuy, Rui M. B. Maciel

    Published 2017
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  14. 14
    Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

    Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology by Ana Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, Andre Yuji Oku, Alexandre Ricardo dos Santos Fornari, David Santos Marco Antônio, Caio Robledo D’Angioli Costa Quaio, Wagner Antonio da Rosa Baratela, Miguel Mitne‐Neto

    Published 2017
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  15. 15
    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 by 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

    Published 2011
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  16. 16
    Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study

    Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study by Alexandre C. Pereira, Taniela Marli Bes, Mariliza Velho, Emanuelle Marques, Cintia E Jannes, Karina Ramos Valino, Carla Luana Dinardo, Sílvia Figueiredo Costa, Alberto J. S. Duarte, Alexandre Rosa dos Santos, Miguel Mitne‐Neto, José Medina‐Pestana, José Eduardo Krieger

    Published 2022
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  17. 17
    A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

    A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree by Miguel Mitne‐Neto, Fernando Kok, Christian Beetz, André Luiz Santos Pessoa, Clarissa Bueno, Zódja Graciani, Marcília Lima Martyn, Carlos Bandeira de Mello Monteiro, Guilherme Mitne, Paulo Hubert, Anders O.H. Nygren, Marcos Valadares, Antonia Cerqueira, Alessandra Starling, Thomas Deufel, Mayana Zatz

    Published 2007
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  18. 18
    Genetic risk factors and Covid-19 severity in Brazil: results from BRACOVID Study

    Genetic risk factors and Covid-19 severity in Brazil: results from BRACOVID Study by Alexandre C. Pereira, Taniela Marli Bes, Mariliza Velho, Emanuelle Marques, Cintia E Jannes, Karina Ramos Valino, Carla Luana Dinardo, Sílvia Figueiredo Costa, Alberto José da Silva Duarte, Alexandre Ricardo dos Santos, Miguel Mitne‐Neto, José Medina‐Pestana, José Eduardo Krieger

    Published 2021
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  19. 19
    Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?

    Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR? by Daniele Paixão, Thálitta H. A. Lima, Rafaela Rogério Floriano de Souza, Juliana Emilia Prior Carnavalli, Clarissa Gondim Picanço-Albuquerque, Isabelle Joyce de Lima Silva‐Fernandes, Paulo Goberlânio de Barros Silva, Miguel Mitne‐Neto, Caroline Mônaco Moreira, Wagner Antônio da Rosa Baratela

    Published 2024
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  20. 20
    A novel RT-LAMP workflow for rapid salivary diagnostics of COVID-19 and effects of age, gender and time from symptom onset

    A novel RT-LAMP workflow for rapid salivary diagnostics of COVID-19 and effects of age, gender and time from symptom onset by Gerson Shigeru Kobayashi, Luciano Abreu Brito, Danielle de Paula Moreira, Ângela May Suzuki, Gabriella Shih Ping Hsia, Lylyan Fragoso Pimentel, Ana Paula Barreto de Paiva, Carolina Regoli Dias, Naila Cristina Vilaça Lourenço, Beatriz Araújo Oliveira, Erika R. Manuli, Marcelo Andreetta Corral, Natale Cavaçana, Miguel Mitne‐Neto, Maria Mirtes Sales, Luiz Phellipe Dell Aquila, Álvaro Razuk Filho, Eduardo Fagundes Parrillo, Maria Cássia Mendes-Corrêa, Éster Cerdeira Sabino, Sílvia Figueiredo Costa, Fábio E. Leal, Germán G. Sgro, Chuck S. Farah, Mayana Zatz, Maria Rita Passos‐Bueno

    Published 2021
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