Found: 4

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  • A new mutation in PYGM causing McArdle disease in a Brazilian patient.

    Published in:
    2020
    By:
    • Gomes, Caio Perez;
    • da Silva, André Macedo Serafim;
    • Zanoteli, Edmar;
    • Pesquero, João Bosco
    Publication type:
    Letter

  • A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.

    Published in:
    Annals of Neurology, 2021, v. 90, n. 2, p. 239, doi. 10.1002/ana.26136
    By:
    • Leoni, Tauana Bernardes;
    • González‐Salazar, Carelis;
    • Rezende, Thiago Junqueira R.;
    • Hernández, Ana Luisa C.;
    • Mattos, Alexandre Hilário B.;
    • Coimbra Neto, Antônio Rodrigues;
    • da Graça, Felipe Franco;
    • Gonçalves, João Pedro Nunes;
    • Martinez, Alberto R.M.;
    • Taniguti, Lucas;
    • Kitajima, João Paulo;
    • Kok, Fernando;
    • Rogério, Fábio;
    • da Silva, André Macedo Serafim;
    • de Oliveira, Alexandre Leite Rodrigues;
    • Zanoteli, Edmar;
    • Nucci, Anamarli;
    • França, Marcondes C.
    Publication type:
    Article

  • A common <italic>CHRNE</italic> mutation in Brazilian patients with congenital myasthenic syndrome.

    Published in:
    Journal of Neurology, 2018, v. 265, n. 3, p. 708, doi. 10.1007/s00415-018-8736-8
    By:
    • Estephan, Eduardo de Paula;
    • Sobreira, Cláudia Ferreira da Rosa;
    • dos Santos, André Clériston José;
    • Tomaselli, Pedro José;
    • Marques, Wilson;
    • Ortega, Roberta Paiva Magalhães;
    • Costa, Marcela Câmara Machado;
    • da Silva, André Macedo Serafim;
    • Mendonça, Rodrigo Holanda;
    • Caldas, Vitor Marques;
    • Zambon, Antonio Alberto;
    • Abath Neto, Osório;
    • Marchiori, Paulo Eurípedes;
    • Heise, Carlos Otto;
    • Reed, Umbertina Conti;
    • Azuma, Yoshiteru;
    • Töpf, Ana;
    • Lochmüller, Hanns;
    • Zanoteli, Edmar
    Publication type:
    Article

  • Whole-body muscle magnetic resonance imaging in inflammatory myopathy with mitochondrial pathology.

    Published in:
    Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1386293
    By:
    • Palmeira Cavalcante, Wagner Cid;
    • Serafim da Silva, André Macedo;
    • de Holanda Mendonça, Rodrigo;
    • Martins Moreno, Cristiane de Araújo;
    • de Souza Proença, Bruna Moreira;
    • Brandão Guimarães, Júlio;
    • Ormond Filho, Alípio Gomes;
    • Zanoteli, Edmar
    Publication type:
    Article