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

Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research

脑部磁共振成像在脑性肾上腺脑白质营养不良中的应用:筛查、监测和研究的国际建议

Yska, Hemmo A F; Golse, Marianne; Galanaud, Damien; Amartino, Hernan M; Bergner, Caroline; Bruschi, Fabio; Eichler, Florian S; Fatemi, Ali; García-Cazorla, Àngeles; Gomez-Chiari, Marta; Köhler, Wolfgang; Loes, Daniel; Lund, Troy; Mallack, Eric J; Moscatelli, Marco; Musolino, Patricia L; Nascene, David R; Orthmann-Murphy, Jennifer L; Parazzini, Cecilia; Pouwels, Petra J W; Ribeiro-Constante, Juliana; Roosendaal, Stefan D; Salsano, Ettore; Sgobbi, Paulo V; Sevin, Caroline; Smith Fine, Amena; Tonduti, Davide; Van Haren, Keith; Zerem, Ayelet; Engelen, Marc; Mochel, Fanny

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter

基于共识的专家建议:白质消失的诊断和临床管理

van Voorst, Romy J; Schoenmakers, Daphne H; Bonkowsky, Joshua L; Vanderver, Adeline; Krägeloh-Mann, Ingeborg; Bernard, Geneviève; Bertini, Enrico; Fatemi, Ali; Sgobbi, Paulo V; Wolf, Nicole I; Groeschel, Samuel; Tonduti, Davide; Sevin, Caroline; Orthmann-Murphy, Jennifer L; Schöls, Ludger; Salsano, Ettore; Brais, Bernard; Jaffe, Nicole; Ter Horst, Kasper W; Hannema, Sabine E; Hayes, Katherine G; Meyburg, Jochen; van Heerde, Marc; Sbrocchi, Anne Marie; van Spaendonk, Rosalina; Thiffault, Isabelle; Hofsteenge, Geesje H; Sudmeier-Broek, Carolina; Timmer, Corrie; Skwirut, Donna; Buck, Allyson; Hollberg, Bret; Chapleau, Ron; Dekker, Hanka; Campbell, Susan G; Abbink, Truus E M; Leferink, Prisca S; van der Knaap, Marjo S

Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension

急性肝卟啉症应纳入难治性高血压或疑似继发性高血压患者的诊断流程中。

de Lima Serrano, Paulo; de Mattos Lombardi Badia, Bruno; Barile, João Paulo; Mendes, Patrícia Marques; Cavalheiro, Renan Brandão Rambaldi; Peixoto, Kaliny Oliveira; Farias, Igor Braga; Machado, Roberta Ismael Lacerda; Seneor, Daniel Delgado; de Rezende Pinto, Wladimir Bocca Vieira; Oliveira, Acary Souza Bulle; Sgobbi, Paulo

Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria

急性肝卟啉症患者急性及慢性危及生命的感染性疾病治疗的实用建议

Badia, Bruno de Mattos Lombardi; Serrano, Paulo de Lima; Barile, João Paulo; Seneor, Daniel Delgado; Mendes, Patrícia Marques; Cavalheiro, Renan Brandão Rambaldi; Peixoto, Kaliny Oliveira; Farias, Igor Braga; Machado, Roberta Ismael Lacerda; Pinto, Wladimir Bocca Vieira de Rezende; Oliveira, Acary Souza Bulle; Sgobbi, Paulo

A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System

一项旨在识别和描述巴西医疗保健系统中疑似患有X连锁肌管性肌病(XLMTM)患者的医疗保健索赔分析

Souza, Paulo Victor Sgobbi; Haselkorn, Tmirah; Baima, Jader; Oliveira, Renato Watanabe; Hernández, Fabián; Birck, Marina G; França, Marcondes C Jr

Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies

评估几丁质酶和神经丝轻链作为成人发病型脑白质营养不良的生物标志物

Serrano, Paulo de Lima; Rodrigues, Thaiane de Paulo Varollo; Pinto, Leslyê Donato; Pereira, Indiara Correia; Farias, Igor Braga; Cavalheiro, Renan Brandão Rambaldi; Mendes, Patrícia Marques; Peixoto, Kaliny Oliveira; Barile, João Paulo; Seneor, Daniel Delgado; Correa Silva, Eduardo Gleitzmann; Oliveira, Acary Souza Bulle; Pinto, Wladimir Bocca Vieira de Rezende; Sgobbi, Paulo

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 sequencing analysis

通过应用新一代测序分析技术,在全球患者队列中检测与隐性肢带型肌无力症和庞贝病相关的基因变异

Bevilacqua, Jorge Alfredo; Al-Salti, Abdullah Mohammed; Al Madani, Abubaker; Alves da Fonseca, Armando; Durmus, Hacer; Chai, Josiah; Alshehri, Ali; Ribeiro, Márcia Gonçalves; Sgobbi, Paulo; Nikitin, Sergey S; Vargas, Steven; Furtado, Adriana; Thibault, Nathan; Araujo, Roberto; Daba, Nadia

Neurofilament light chain as a biomarker for acute hepatic porphyrias

神经丝轻链作为急性肝卟啉症的生物标志物

Sgobbi, Paulo; Serrano, Paulo de Lima; Badia, Bruno de Mattos Lombardi; Farias, Igor Braga; de Oliveira, Hélvia Bertoldo; Barbosa, Alana Strucker; Pereira, Camila Alves; Moreira, Vanessa de Freitas; Pinto, Ícaro França Navarro; Oliveira, Acary Souza Bulle; Pinto, Wladimir Bocca Vieira de Rezende

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

Segmental areas of denervation in post-polio syndrome

脊髓灰质炎后遗症的节段性失神经支配区域

Braga, Vinícius Lopes; Moreira, Heloísa Lopes Cohim; Fraiman, Pedro Henrique Almeida; Sarmento, Filipe Pereira; Farias, Igor Braga; Serrano, Paulo de Lima; Badia, Bruno de Mattos Lombardi; Chieia, Marco Antônio Troccoli; Pinto, Wladimir Bocca Vieira de Rezende; Souza, Paulo Victor Sgobbi de; Oliveira, Acary Souza Bulle