Found: 5

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  • A novel complex neurological phenotype due to a homozygous mutation in FDX2.

    Published in:
    2018
    By:
    • Gurgel-Giannetti, Juliana;
    • Lynch, David S;
    • Paiva, Anderson Rodrigues Brandão de;
    • Lucato, Leandro Tavares;
    • Yamamoto, Guilherme;
    • Thomsen, Christer;
    • Basu, Somsuvro;
    • Freua, Fernando;
    • Giannetti, Alexandre Varella;
    • Assis, Bruno Della Ripa de;
    • Paiva, Anderson Rodrigues Brandão de;
    • Ribeiro, Mara Dell Ospedale;
    • Barcelos, Isabella;
    • Sayão Souza, Katiane;
    • Monti, Fernanda;
    • Melo, Uirá Souto;
    • Amorim, Simone;
    • Silva, Leonardo G L;
    • Macedo-Souza, Lúcia Inês;
    • Vianna-Morgante, Angela M
    Publication type:
    journal article

  • Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype.

    Published in:
    Brain Sciences (2076-3425), 2023, v. 13, n. 8, p. 1169, doi. 10.3390/brainsci13081169
    By:
    • Peixoto de Barcelos, Isabella;
    • Bueno, Clarissa;
    • S. Godoy, Luís Filipe;
    • Pessoa, André;
    • A. Costa, Larissa;
    • C. Monti, Fernanda;
    • Souza-Cabral, Katiane;
    • Listik, Clarice;
    • Castro, Diego;
    • Della-Ripa, Bruno;
    • Freua, Fernando;
    • C. Pires, Laís;
    • T. Krüger, Lia;
    • D. Gherpelli, José Luiz;
    • B. Piazzon, Flavia;
    • P. Monteiro, Fabiola;
    • T. Lucato, Leandro;
    • Kok, Fernando
    Publication type:
    Article

  • A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

    Published in:
    Journal of Neurology, 2022, v. 269, n. 12, p. 6673, doi. 10.1007/s00415-022-11302-9
    By:
    • Budhdeo, Sanjay;
    • de Paiva, Anderson Rodrigues Brandão;
    • Wade, Charles;
    • Lopes, Laura Cardia Gomes;
    • Della-Ripa, Bruno;
    • Davagnanam, Indran;
    • Lucato, Leandro;
    • Mummery, Catherine J.;
    • Kok, Fernando;
    • Houlden, Henry;
    • Werring, David J.;
    • Lynch, David S.
    Publication type:
    Article

  • Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.

    Published in:
    Movement Disorders, 2022, v. 37, n. 6, p. 1309, doi. 10.1002/mds.29015
    By:
    • da Costa, Sophia Caldas Gonzaga;
    • de Rezende‐Filho, Flávio c;
    • de Freitas, Júlian Leticia;
    • de Assis Pereira Matos, Paula Camila Alves;
    • Della‐Ripa, Bruno;
    • França, Marcondes Cavalcante;
    • Marques, Wilson;
    • Santos, Mariana;
    • Cronemberger, Igor Vasconcelos Barros;
    • Vale, Thiago Cardoso;
    • Kok, Fernando;
    • Alonso, Isabel;
    • Pedroso, José Luiz;
    • Barsottini, Orlando G.P.
    Publication type:
    Article

  • Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006232
    By:
    • Freua, Fernando;
    • Espíndola de Castro Almeida, Mariana;
    • Ribeiro Nóbrega, Paulo;
    • Rodrigues Brandão de Paiva, Anderson;
    • Della-Ripa, Bruno;
    • Cunha, Paulina;
    • Macedo-Souza, Lúcia Inês;
    • Bueno, Clarissa;
    • Lynch, David S.;
    • Houlden, Henry;
    • Tavares Lucato, Leandro;
    • Kok, Fernando
    Publication type:
    Article