Diagnostic reasoning in neurogenetics: a general approach

por Fussiger, Helena, Pedroso, José Luiz, Saute, Jonas Alex Morales
Publicado 2022

Simultaneous bilateral optic neuritis and longitudinally extensive transverse myelitis following vaccination against COVID-19: A case report

por Borelli, Wyllians Vendramini, da Silveira, André Luís Marques, Finkelsztejn, Alessandro, Hansel, Gisele, Sato, Douglas Kazutoshi, Saute, Jonas Alex Morales
Publicado 2021

State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change

por Furtado, Gabriel Vasata, de Oliveira, Camila Maria, Bolzan, Gabriela, Saute, Jonas Alex Morales, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach
Publicado 2019

Long-term progression of clinician-reported and gait performance outcomes in hereditary spastic paraplegias

por Cubillos Arcila, Diana Maria, Dariva Machado, Gustavo, Martins, Valéria Feijó, Leotti, Vanessa Bielefeldt, Schüle, Rebecca, Peyré-Tartaruga, Leonardo Alexandre, Saute, Jonas Alex Morales
Publicado 2023

Cognitive profile of patients with facioscapulohumeral muscular dystrophy

por dos Santos, Vanessa Brzoskowski, Saute, Jonas Alex Morales, Jacinto-Scudeiro, Laís Alves, Ayres, Annelise, Rech, Rafaela Soares, de Oliveira, Alcyr Alves, Olchik, Maira Rozenfeld
Publicado 2021

Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy

por dos SANTOS, Vanessa Brzoskowski, SAUTE, Jonas Alex Morales, JACINTO-SCUDEIRO, Laís Alves, AYRES, Annelise, RECH, Rafaela Soares, de OLIVEIRA, Alcyr Alves, OLCHIK, Maira Rozenfeld
Publicado 2022

Evoked potentials as biomarkers of hereditary spastic paraplegias: A case-control study

por Brighente, Samanta Ferraresi, Vicuña, Paul, Rodrigues Louzada, Ana Luiza, Giordani, Gabriela Marchisio, Fussiger, Helena, dos Santos, Marco Antonnio Rocha, Cubillos-Arcila, Diana Maria, Winckler, Pablo Brea, Saute, Jonas Alex Morales
Publicado 2021

Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis

por de Lima Silva, Elis Vanessa, Donis, Karina Carvalho, Machado, Fabiana Rita Camara, Simão Medeiros, Leonardo, Aschoff, Carlos Alberto de Moura, de Souza, Carolina Fischinger Moura, Poswar, Fabiano de Oliveira, Saute, Jonas Alex Morales
Publicado 2023

Estimated costs for Duchenne muscular dystrophy care in Brazil

por Schneider, Nayê Balzan, Roos, Erica Caetano, Staub, Ana Lúcia Portella, Bevilacqua, Isabela Possebon, de Almeida, Ana Carolina, de Camargo Martins, Tamiê, Ramos, Natalia Bergamelli, Loze, Priscilla, Saute, Jonas Alex Morales, Etges, Ana Paula Beck da Silva, Polanczyk, Carisi Anne
Publicado 2023

Dysarthria in hereditary spastic paraplegia type 4

por Jacinto-Scudeiro, Lais Alves, Rothe-Neves, Rui, dos Santos, Vanessa Brzoskowski, Machado, Gustavo Dariva, Burguêz, Daniela, Padovani, Marina Martins Pereira, Ayres, Annelise, Rech, Rafaela Soares, González-Salazar, Carelis, Junior, Marcondes Cavalcante França, Saute, Jonas Alex Morales, Olchik, Maira Rozenfeld
Publicado 2022

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias

por Giordani, Gabriela Marchisio, Diniz, Fabrício, Fussiger, Helena, Gonzalez-Salazar, Carelis, Donis, Karina Carvalho, Freua, Fernando, Ortega, Roberta Paiva Magalhães, de Freitas, Julian Letícia, Barsottini, Orlando Graziani Povoas, Rosemberg, Sergio, Kok, Fernando, Pedroso, José Luiz, França, Marcondes Cavalcante, Saute, Jonas Alex Morales
Publicado 2021

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment

por Nóbrega, Paulo Ribeiro, Bernardes, Anderson Moura, Ribeiro, Rodrigo Mariano, Vasconcelos, Sophia Costa, Araújo, David Augusto Batista Sá, Gama, Vitor Carneiro de Vasconcelos, Fussiger, Helena, Santos, Carolina de Figueiredo, Dias, Daniel Aguiar, Pessoa, André Luíz Santos, Pinto, Wladimir Bocca Vieira de Rezende, Saute, Jonas Alex Morales, de Souza, Paulo Victor Sgobbi, Braga-Neto, Pedro
Publicado 2022

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

por de Assis, Adriano M., Saute, Jonas Alex Morales, Longoni, Aline, Haas, Clarissa Branco, Torrez, Vitor Rocco, Brochier, Andressa Wigner, Souza, Gabriele Nunes, Furtado, Gabriel Vasata, Gheno, Tailise Conte, Russo, Aline, Monte, Thais Lampert, Castilhos, Raphael Machado, Schumacher-Schuh, Artur, D’Avila, Rui, Donis, Karina Carvalho, de Mello Rieder, Carlos Roberto, Souza, Diogo Onofre, Camey, Suzi, Leotti, Vanessa Bielefeldt, Jardim, Laura Bannach, Portela, Luis Valmor
Publicado 2017

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy

por Araujo, Alexandra Prufer de Queiroz Campos, Saute, Jonas Alex Morales, Fortes, Clarisse Pereira Dias Drumond, França Jr, Marcondes Cavalcante, Pereira, Jaqueline Almeida, Albuquerque, Marco Antonio Veloso de, Carvalho, Alzira Alves de Siqueira, Cavalcanti, Eduardo Boiteux Uchôa, Covaleski, Anna Paula Paranhos Miranda, Fagondes, Simone Chaves, Gurgel-Giannetti, Juliana, Gonçalves, Marcus Vinicius Magno, Martinez, Alberto Rolim Muro, Coimbra Neto, Antônio Rodrigues, Neves, Flavio Reis, Nucci, Anamarli, Nucera, Ana Paula Cassetta dos Santos, Pessoa, Andre Luis Santos, Rebel, Marcos Ferreira, Santos, Flavia Nardes dos, Scola, Rosana Herminia, Sobreira, Cláudia Ferreira da Rosa
Publicado 2023

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

por Mendonça, Rodrigo de Holanda, Matsui, Ciro, Polido, Graziela Jorge, Silva, André Macedo Serafim, Kulikowski, Leslie, Torchio Dias, Alexandre, Zanardo, Evelin Aline, Solla, Davi Jorge Fontoura, Gurgel-Giannetti, Juliana, de Moura, Ana Carolina Monteiro Lessa, Sampaio, Gabriela Palhares Campolina, Oliveira, Acary Souza Bulle, de Souza, Paulo Victor Sgobbi, Pinto, Wladimir Bocca Vieira de Rezende, Gonçalves, Eduardo Augusto, Farias, Igor Braga, Nardes, Flávia, Araújo, Alexandra Prufer de Queiroz Campos, Marques, Wilson, Tomaselli, Pedro José, Ribeiro, Mara Dell Ospedale, Kitajima, João Paulo, Paoli Monteiro, Fabíola, Saute, Jonas Alex Morales, Becker, Michele Michelin, Saraiva-Pereira, Maria Luiza, Brusius-Facchin, Ana Carolina, van der Linden, Vanessa, Florêncio, Rodrigo Neves, Barbosa, André Vinícius Soares, Machado-Costa, Marcela Camara, Pessoa, André Luiz Santos, Souza, Leticia Silva, Franca, Marcondes Cavalcante, Kok, Fernando, Reed, Umbertina Conti, Zanoteli, Edmar
Publicado 2020