Found: 3

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  • Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2508, doi. 10.1002/ajmg.a.63320
    By:
    • Nair, Divya;
    • Diaz‐Rosado, Abdias;
    • Varella‐Branco, Elisa;
    • Ramos, Igor;
    • Black, Aaron;
    • Angireddy, Rajesh;
    • Park, Joseph;
    • Murali, Svathi;
    • Yoon, Andrew;
    • Ciesielski, Brianna;
    • O'Brien, W. Timothy;
    • Passos‐Bueno, Maria Rita;
    • Bhoj, Elizabeth
    Publication type:
    Article

  • A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.

    Published in:
    Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9273-1
    By:
    • Samogy-Costa, Claudia Ismania;
    • Varella-Branco, Elisa;
    • Monfardini, Frederico;
    • Ferraz, Helen;
    • Fock, Rodrigo Ambrósio;
    • Barbosa, Ricardo Henrique Almeida;
    • Pessoa, André Luiz Santos;
    • Perez, Ana Beatriz Alvarez;
    • Lourenço, Naila;
    • Vibranovski, Maria;
    • Krepischi, Ana;
    • Rosenberg, Carla;
    • Passos-Bueno, Maria Rita
    Publication type:
    Article

  • Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.

    Published in:
    Frontiers in Cellular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fncel.2021.803302
    By:
    • Moreira, Danielle de Paula;
    • Suzuki, Angela May;
    • Silva, André Luiz Teles e;
    • Varella-Branco, Elisa;
    • Meneghetti, Maria Cecília Zorél;
    • Kobayashi, Gerson Shigeru;
    • Fogo, Mariana;
    • Ferrari, Merari de Fátima Ramires;
    • Cardoso, Rafaela Regina;
    • Lourenço, Naila Cristina Vilaça;
    • Griesi-Oliveira, Karina;
    • Zachi, Elaine Cristina;
    • Bertola, Débora Romeo;
    • Weinmann, Karina de Souza;
    • Lima, Marcelo Andrade de;
    • Nader, Helena Bonciani;
    • Sertié, Andrea Laurato;
    • Passos-Bueno, Maria Rita
    Publication type:
    Article