日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Toward the establishment of best practice guidelines for human research in Genomic Medicine in Brazil

巴西基因组医学人体研究最佳实践指南的建立

Ludwig, Fernanda Sperb; Artigalás, Osvaldo; Rodrigues, Nureyev Ferreira; Prolla, Patricia Ashton; Matte, Ursula da Silveira; Saute, Jonas Alex Morales

Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing ≤17 kg and ≤24 months old from OFELIA, a phase 4, open-label, multicenter, non-randomised, interventional study

OFELIA 是一项 4 期、开放标签、多中心、非随机干预性研究,旨在评估 onasemnogene abeparvovec 对体重 ≤17 kg 且年龄 ≤24 个月的脊髓性肌萎缩症患者的安全性和耐受性。

Saute, Jonas Alex; Muntadas, Javier; Gurgel-Giannetti, Juliana; Monges, Soledad; Aliberti, Paula; Mendonça, Rodrigo Holanda; Alecu, Iulian; Ritter, Shannon; Martins de Lana, Janaina; Mumneh, Nayla; Zanoteli, Edmar

Clinical trials to gene therapy development and production in Brazil: a review

巴西基因治疗研发和生产的临床试验:综述

Morales Saute, Jonas Alex; Picanço-Castro, Virginia; de Freitas Lopes, Ana Carolina; da Silva Júnior, João Batista; Henriques Nehm, Johanna; Dos Santos Maciel, Franciele; Doederlein Schwartz, Ida Vanessa; Ferraz Sallum, Juliana Maria; Castro Ozelo, Margareth; Giugliani, Roberto; Bonamino, Martin; Petrs-Silva, Hilda; Baldo, Guilherme

Limited sensitivity of somatosensory evoked potentials as disease monitoring biomarkers in hereditary spastic paraplegias

体感诱发电位作为遗传性痉挛性截瘫疾病监测生物标志物的敏感性有限

Spengler, Fernando Augusto Marion; Brighente, Samanta Ferraresi; Rodrigues Louzada, Ana Luiza; de Souza, Maria Eduarda Ribeiro; Bevilacqua, Isabela Possebon; Cubillos-Arcila, Diana Maria; Saute, Jonas Alex Morales

Genotype-phenotype correlation of neurodevelopmental disorders in patients with dystrophinopathies

肌营养不良症患者神经发育障碍的基因型-表型相关性

Soares, Fabrício M; Rosa, Bruna F; Giordani, Gabriela M; Rocha, Daniele L; Brusius-Facchin, Ana Carolina; Becker, Michele M; Saute, Jonas Alex M

Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil

脊髓性肌萎缩症的临床遗传特征及对疾病修饰疗法的反应:来自巴西南部一家参考中心的真实世界经验

de Albuquerque, Ana Letícia Amorim; Chadanowicz, Júlia Kersting; Bevilacqua, Isabela Possebon; Staub, Ana Lucia Portella; Winckler, Pablo Brea; da Silva, Patricia Zambone; Fagondes, Simone Chaves; Ferrari, Renata Salatti; Trojahn, Claudia Denise de Oliveira; Sacharuk, Viviane Zechlinski; Kowalski, Thayne Woycinck; Donis, Karina Carvalho; Becker, Michele Michelin; Saute, Jonas Alex Morales

Serum myostatin as a candidate disease severity and progression biomarker of spinal muscular atrophy

血清肌生长抑制素作为脊髓性肌萎缩症的候选疾病严重程度和进展生物标志物

Ana Letícia Amorim de Albuquerque, Júlia Kersting Chadanowicz, Giovanna Câmara Giudicelli, Ana Lucia Portella Staub, Arthur Carpeggiani Weber, Jordana Miranda De Souza Silva, Michele Michelin Becker, Thayne Woycinck Kowalski, Marina Siebert, Jonas Alex Morales Saute

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

巴西罕见病流行病学特征:巴西罕见病网络的回顾性研究

de Oliveira, Bibiana Mello; Bernardi, Filipe Andrade; Baiochi, João Francisco; Neiva, Mariane Barros; Artifon, Milena; Vergara, Alberto Andrade; Martins, Ana Maria; Grumach, Anete Sevciovic; Acosta, Angelina Xavier; Husny, Antonette Souto El; de Freitas Rodrigues Ribeiro, Bethania; Ramos, Camila Ferreira; Steiner, Carlos Eduardo; Kim, Chong Ae; Christofolini, Denise Maria; Yamada, Diego Bettiol; Carvalho, Ellaine Doris Fernandes; Ribeiro, Erlane Marques; de Arruda Bastos, Fabíola; Serpa, Faradiba Sarquis; Brandão, Flávia Reseda; Adjuto, Giselle Maria Araujo Felix; Carvalho, Isabelle; Saute, Jonas Alex Morales; Junior, Juan Clinton Llerena; Bueno, Larissa Souza Mario; da Silva, Luiz Carlos Santana; Santos, Mara Lucia Schmitz Ferreira; Costa, Marcela Câmara Machado; Giusti, Marcia Maria Costa Giacon; Galera, Marcial Francis; Filho, Márcio Eloi Colombo; de Andrade, Maria Denise Fernandes Carvalho; De Oliveira Cardoso, Maria Teresinha; de Menezes Ferreira, Marilaine Matos; Zeny, Michelle; Caldato, Milena Coelho Fernandes; Sorte, Ney Boa; Musolino, Nina Rosa de Castro; de Medeiros, Paula Frassinetti Vasconcelos; Zen, Paulo Ricardo Gazzola; Da Silva, Raquel Tavares Boy; Maia, Rayana Elias; Fock, Rodrigo; Almeida, Rosemarie Elizabeth Schimidt; Valle, Solange Oliveira Rodrigues; Amorim, Tatiana; Teixeira, Thaís Bomfim; Prazeres, Vania Mesquita Gadelha; de Faria Ferraz, Victor Evangelista; Lima, Vinicius Costa; Paiva, Wagner José Martins; Schwartz, Ida Vanessa Doederlein; Alves, Domingos; Félix, Têmis Maria

Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies

赋予有杜氏肌营养不良症和贝克尔肌营养不良症携带风险的女性以遗传信息的力量

Hoefel, Alice Maria Luderitz; Weschenfelder, Cesar Augusto; Rosa, Bruna Faria; Donis, Karina Carvalho; Saute, Jonas Alex Morales

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

巴西神经病学学会关于5q脊髓性肌萎缩症的诊断、遗传咨询和疾病修饰疗法的共识

Zanoteli, Edmar; Araujo, Alexandra Prufer de Queiróz Campos; Becker, Michele Michelin; Fortes, Clarisse Pereira Dias Drumond; França, Marcondes Cavalcante Jr; Machado-Costa, Marcela Camara; Marques, Wilson Jr; Matsui, Ciro Jr; Mendonça, Rodrigo Holanda; Nardes, Flávia; Oliveira, Acary Souza Bulle; Pessoa, Andre Luis Santos; Saute, Jonas Alex Morales; Sgobbi, Paulo; Van der Linden, Hélio Jr; Gurgel-Giannetti, Juliana