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

Long-term plasma monitoring of THC and CBD in pediatric drug-resistant epilepsy: Implications for cannabidiol therapy with Epidyolex®

儿童难治性癫痫患者血浆中 THC 和 CBD 的长期监测:对 Epidyolex® 大麻二酚疗法的启示

Cafaro, Alessia; Riva, Antonella; Pigliasco, Federica; Barco, Sebastiano; Manca, Valentina; Stella Vari, Maria; Mancardi, Maria Margherita; Nobili, Lino; Pichini, Simona; Busardò, Francesco Paolo; Striano, Pasquale; Cangemi, Giuliana

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

PEX13 相关泽尔韦格谱系障碍的基因型-表型相关性和疾病机制

Paola Borgia #, Simona Baldassari #, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D'Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D Mangan

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel

与 KCNA1 新型新生突变相关的无共济失调的肌肉骨骼特征削弱了 Kv1.1 通道的电压敏感性

Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D'adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari, Matteo Cataldi, Valeria Capra, Stefano Gustincich, Federico Zara, Jean-Francois Desaphy, Chiara Fiorillo1

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet

生化表型揭示了与生酮饮食治疗 GLUT1 缺乏症相关的新型代谢异常和潜在生物标志物

Gerarda Cappuccio, Michele Pinelli, Marianna Alagia, Taraka Donti, Debra-Lynn Day-Salvatore, Pierangelo Veggiotti, Valentina De Giorgis, Simona Lunghi, Maria Stella Vari, Pasquale Striano, Nicola Brunetti-Pierri, Adam D Kennedy, Sarah H Elsea