Výsledky vyhledávání - Matheus Augusto Araújo Castro

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  1. 1
    Magnetic resonance imaging traits may help to differentiate Pelizaeus-Merzbacher and Pelizaeus-Merzbacher-like disease

    Magnetic resonance imaging traits may help to differentiate Pelizaeus-Merzbacher and Pelizaeus-Merzbacher-like disease Autor Matheus Augusto Araújo Castro, Pedro Henrique Almeida Fraiman, Clécio Godeiro‐Júnior

    Vydáno 2019
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  2. 2
    Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome

    Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome Autor Matheus Augusto Araújo Castro, Juliana Heather Vedovato dos Santos, Rachel Sayuri Honjo, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Anna Hurst, Lynn P. Chorich, Lawrence C. Layman, Chong Ae Kim, Hyung‐Goo Kim

    Vydáno 2021
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  3. 3
    P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7

    P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7 Autor Parith Wongkittichote, Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Davide Carvalho, Adrianna Banzzatto Ortega, Claudio de Gusmao, Matheus Augusto Araújo Castro, Tomi L. Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi

    Vydáno 2023
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  4. 4
    Young-Onset Alzheimer Dementia Due to a Novel Pathogenic <i>Presenilin 1</i> Variant Initially Misdiagnosed as Autoimmune Encephalitis

    Young-Onset Alzheimer Dementia Due to a Novel Pathogenic <i>Presenilin 1</i> Variant Initially Misdiagnosed as Autoimmune Encephalitis Autor Nathalia Rossoni Ronchi, Matheus Augusto Araújo Castro, Artur Martins Coutinho, Leandro Tavares Lucato, Guilherme Diogo Silva, Sônia Maria Dozzi Brucki, Fernando Kok, Eduardo Sturzeneker Trés, Paulo Ribeiro Nóbrega, Fernando Freua, Ricardo Nitríni, Mateus Mistieri Simabukuro

    Vydáno 2024
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  5. 5
    Patient with a heterozygous pathogenic variant in <scp><i>CSNK2A1</i></scp> gene: A new case to update the <scp>Okur–Chung</scp> neurodevelopmental syndrome

    Patient with a heterozygous pathogenic variant in <scp><i>CSNK2A1</i></scp> gene: A new case to update the <scp>Okur–Chung</scp> neurodevelopmental syndrome Autor A Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Müller, J. Colné, François Feillet, Emmanuelle Schmitt, Matheus Augusto Araújo Castro, Jullian Savatt, Adriano Burcheri, Christophe Némos, Christophe Philippe, Laëtitia Lambert

    Vydáno 2024
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  6. 6
    Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool

    Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool Autor Gleyson Francisco da Silva Carvalho, Claudio Melo de Gusmão, Beatriz Martins Wolff, Lucas Liro Vieira, Yanca Gasparini, Mariana Ribeiro Costa, Rafaela da Silva Mendes, Matheus Augusto Araújo Castro, Mayara T. Sakuma, Fernando Kok, Bekim Sadikovic, Leslie Domenici Kulikowski

    Vydáno 2024
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  7. 7
    Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome

    Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome Autor Rie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, Veronica Eun Hue Kim, Isabel Furquim, Rachel Sayuri Honjo, Matheus Augusto Araújo Castro, Lucas Vieira Lacerda Pires, Hiromi Aoi, Kazuhiro Iwama, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Débora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto

    Vydáno 2022
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  8. 8
    Disease progression in Sanfilippo type B: Case series of Brazilian patients

    Disease progression in Sanfilippo type B: Case series of Brazilian patients Autor Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso‐dos‐Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar

    Vydáno 2024
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  9. 9
    Clinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort

    Clinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort Autor Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, Giovana Manilli Toccoli, Sofia de Oliveira Farias, Davi Mendes Campo Fialho, Eny Maria Goloni‐Bertollo, Érika Cristina Pavarino, Larissa Sampaio de Athayde, Cecília Barbosa Buck, Maria Betânia Pereira Toralles, Maria Isabel Melaragno, Mariluce Riegel, Gustavo Marquezani Spolador, Paulo Alberto Otto, Caroline Brandão Piai, Fernando Kok, Ceres Cechella, Carla Rosenberg, Juan Clinton Llerena, Débora Romeo Bertola, Salmo Raskin, Chong Ae Kim, Ana Cristina Victorino Krepischi

    Vydáno 2025
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