Found: 7

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  • Neurofilament light chain as a biomarker for acute hepatic porphyrias.

    Published in:
    Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1384678
    By:
    • Sgobbi, Paulo;
    • de Lima Serrano, Paulo;
    • de Mattos, Bruno;
    • Badia, Lombardi;
    • Braga Farias, Igor;
    • Bertoldo de Oliveira, Hélvia;
    • Barbosa, Alana Strucker;
    • Alves Pereira, Camila;
    • de Freitas Moreira, Vanessa;
    • Navarro Pinto, Ícaro França;
    • Bulle Oliveira, Acary Souza;
    • Vieira de Rezende Pinto, Wladimir Bocca
    Publication type:
    Article

  • Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges.

    Published in:
    Genes, 2024, v. 15, n. 3, p. 311, doi. 10.3390/genes15030311
    By:
    • Souza, Paulo Victor Sgobbi de;
    • Serrano, Paulo de Lima;
    • Farias, Igor Braga;
    • Machado, Roberta Ismael Lacerda;
    • Badia, Bruno de Mattos Lombardi;
    • Oliveira, Hélvia Bertoldo de;
    • Barbosa, Alana Strucker;
    • Pereira, Camila Alves;
    • Moreira, Vanessa de Freitas;
    • Chieia, Marco Antônio Troccoli;
    • Barbosa, Adriel Rêgo;
    • Braga, Vinícius Lopes;
    • Pinto, Wladimir Bocca Vieira de Rezende;
    • Oliveira, Acary Souza Bulle
    Publication type:
    Article

  • Brazilian registry of patients with porphyria: REBRAPPO study.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02653-1
    By:
    • Souza, Paulo Victor Sgobbi;
    • Afonso, Gliciane;
    • de Rezende Pinto, Wladimir Bocca Vieira;
    • de Lima Serrano, Paulo;
    • de Mattos Lombardi Badia, Bruno;
    • Farias, Igor Braga;
    • dos Santos Jorge, Ana Carolina;
    • Machado, Roberta Ismael Lacerda;
    • Pinto, Icaro França Navarro;
    • Barros, Glenda Barbosa;
    • de Oliveira, Helvia Bertoldo;
    • Calil, Samia Rogatis;
    • Franz, Cibele;
    • Oliveira, Acary Souza Bulle
    Publication type:
    Article

  • MR imaging of inherited myopathies: a review and proposal of imaging algorithms.

    Published in:
    European Radiology, 2021, v. 31, n. 11, p. 8498, doi. 10.1007/s00330-021-07931-9
    By:
    • Aivazoglou, Laís Uyeda;
    • Guimarães, Julio Brandão;
    • Link, Thomas M.;
    • Costa, Maria Alice Freitas;
    • Cardoso, Fabiano Nassar;
    • de Mattos Lombardi Badia, Bruno;
    • Farias, Igor Braga;
    • de Rezende Pinto, Wladimir Bocca Vieira;
    • de Souza, Paulo Victor Sgobbi;
    • Oliveira, Acary Souza Bulle;
    • de Siqueira Carvalho, Alzira Alves;
    • Aihara, André Yui;
    • da Rocha Corrêa Fernandes, Artur
    Publication type:
    Article

  • Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations.

    Published in:
    Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.715523
    By:
    • de Souza, Paulo Victor Sgobbi;
    • Badia, Bruno de Mattos Lombardi;
    • Farias, Igor Braga;
    • Pinto, Wladimir Bocca Vieira de Rezende;
    • Oliveira, Acary Souza Bulle
    Publication type:
    Article

  • Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

    Published in:
    2021
    By:
    • de Souza, Paulo Victor Sgobbi;
    • Pinto, Wladimir Bocca Vieira de Rezende;
    • Farias, Igor Braga;
    • Badia, Bruno de Mattos Lombardi;
    • Pinto, Icaro França Navarro;
    • Costa, Gustavo Carvalho;
    • Marin, Carolina Maria;
    • dos Santos Jorge, Ana Carolina;
    • Souto, Emília Correia;
    • Serrano, Paulo de Lima;
    • Machado, Roberta Ismael Lacerda;
    • Chieia, Marco Antônio Troccoli;
    • Bertini, Enrico;
    • Oliveira, Acary Souza Bulle
    Publication type:
    journal article

  • GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 534, doi. 10.1002/jimd.12325
    By:
    • Souza, Paulo Victor Sgobbi;
    • Badia, Bruno Mattos Lombardi;
    • Farias, Igor Braga;
    • Pinto, Wladimir Bocca Vieira de Rezende;
    • Oliveira, Acary Souza Bulle;
    • Akman, Hasan Orhan;
    • DiMauro, Salvatore
    Publication type:
    Article