Found: 7

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  • A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

    Published in:
    2018
    By:
    • Castañeda, Marisol Sampedro;
    • Zanoteli, Edmar;
    • Scalco, Renata S;
    • Scaramuzzi, Vinicius;
    • Caldas, Vitor Marques;
    • Reed, Umbertina Conti;
    • Silva, Andre Macedo Serafim da;
    • O'Callaghan, Benjamin;
    • Phadke, Rahul;
    • Bugiardini, Enrico;
    • Sampedro Castañeda, Marisol;
    • Marques Caldas, Vitor;
    • Conti Reed, Umbertina;
    • da Silva, Andre Macedo Serafim;
    • Sud, Richa;
    • McCall, Samuel;
    • Hanna, Michael G;
    • Poulsen, Hanne;
    • Männikkö, Roope;
    • Matthews, Emma
    Publication type:
    journal article

  • Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 483, doi. 10.3233/JND-221638
    By:
    • Camelo, Clara Gontijo;
    • Artilheiro, Mariana Cunha;
    • Martins Moreno, Cristiane Araújo;
    • Ferraciolli, Suely Fazio;
    • Serafim Silva, André Macedo;
    • Fernandes, Tatiana Ribeiro;
    • Lucato, Leandro Tavares;
    • Rocha, Antônio José;
    • Reed, Umbertina Conti;
    • Zanoteli, Edmar
    Publication type:
    Article

  • The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

    Published in:
    2019
    By:
    • Cruz, Pedro M. Rodríguez;
    • Cossins, Judith;
    • Estephan, Eduardo de Paula;
    • Munell, Francina;
    • Selby, Kathryn;
    • Hirano, Michio;
    • Maroofin, Reza;
    • Mehrjardi, Mohammad Yahya Vahidi;
    • Chow, Gabriel;
    • Carr, Aisling;
    • Manzur, Adnan;
    • Robb, Stephanie;
    • Munot, Pinki;
    • Liu, Wei Wei;
    • Banka, Siddharth;
    • Fraser, Harry;
    • Goede, Christian De;
    • Zanoteli, Edmar;
    • Reed, Umbertina Conti;
    • Sage, Abigail
    Publication type:
    journal article

  • Spinal muscular atrophy: from animal model to clinical trial.

    Published in:
    Functional Neurology, 2010, v. 25, n. 2, p. 73
    By:
    • Zanoteli, Edmar;
    • Maximino, Jessica Ruivo;
    • Reed, Umbertina Conti;
    • Chadi, Gerson
    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

  • Efeitos do treinamento de empilhamento de ar na função pulmonar de pacientes com amiotrofia espinhal e distrofia muscular congênita.

    Published in:
    Brazilian Journal of Pulmonology / Jornal Brasileiro de Pneumologia, 2014, v. 40, n. 5, p. 528, doi. 10.1590/S1806-37132014000500009
    By:
    • Carvalho Marques, Tanyse Bahia;
    • de Carvalho Neves, Juliana;
    • Andrews Portes, Leslie;
    • Marcos Salge, João;
    • Zanoteli, Edmar;
    • Conti Reed, Umbertina
    Publication type:
    Article

  • Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

    Published in:
    2018
    By:
    • Dabaj, Ivana;
    • Carlier, Robert Y.;
    • Gómez‐Andrés, David;
    • Neto, Osório Abath;
    • Bertini, Enrico;
    • D'amico, Adele;
    • Fattori, Fabiana;
    • PéRéon, Yann;
    • Castiglioni, Claudia;
    • Rodillo, Eliana;
    • Catteruccia, Michela;
    • Guimarães, júlio Brandão;
    • Oliveira, Acary Souza Bulle;
    • Reed, Umbertina Conti;
    • Mesrob, Lilia;
    • Lechner, Doris;
    • Boland, Anne;
    • Deleuze, Jean‐François;
    • Malfatti, Edoardo;
    • Bonnemann, Carsten
    Publication type:
    journal article