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Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation seque... by Jorge Alfredo Bevilacqua, Abdullah Mohammed Al-Salti, Abubaker Al Madani, Armando Alves da Fonseca, Hacer Durmus, Josiah Chai, Ali Alshehri, Márcia Gonçalves Ribeiro, Paulo Sgobbi, Sergey S. Nikitin, Steven Vargas, Adriana Furtado, Nathan Thibault, Roberto Araujo, Nadia Daba

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Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria by Bruno de Mattos Lombardi Badia, Paulo de Lima Serrano, João Paulo Barile, Daniel Delgado Seneor, Patrícia Marques Mendes, Renan Brandão Rambaldi Cavalheiro, Kaliny Oliveira Peixoto, Igor Braga Farias, Roberta Ismael Lacerda Machado, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi

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Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy by Edmar Zanoteli, Alexandra Prufer de Queiróz Campos Araujo, Michele Michelin Becker, Clarisse Pereira Dias Drumond Fortes, Marcondes Cavalcante França, Marcela Camara Machado-Costa, Wilson Marques, Ciro Matsui Jr, Rodrigo Holanda Mendonça, Flávia Nardes, Acary Souza Bulle Oliveira, Andre Luis Santos Pessoa, Jonas Alex Morales Saute, Paulo Sgobbi, Hélio Van der Linden, Juliana Gurgel-Giannetti

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