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

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features

韦尼克脑病并发具有类似MNGIE特征的独特POLG表型

Capece, Giuliana; Caumo, Luca; Volta, Sara; Riguzzi, Pietro; Sogus, Elena; Petrosino, Angela; Vianello, Sara; Sabbatini, Daniele; Salviati, Leonardo; Manara, Renzo; Viscomi, Carlo; Sorarù, Gianni; Bello, Luca; Pegoraro, Elena

Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.

在小鼠中模拟 POLG 突变揭示了 POLγÎ' 在调节表型严重程度中的关键作用

Corrà Samantha, Zuppardo Alessandro, Valenzuela Sebastian, Jenninger Louise, Cerutti Raffaele, Sillamaa Sirelin, Hoberg Emily, Johansson Katarina A S, Rovsnik Urska, Volta Sara, Silva-Pinheiro Pedro, Davis Hannah, Trifunovic Aleksandra, Minczuk Michal, Gustafsson Claes M, Suomalainen Anu, Zeviani Massimo, Macao Bertil, Zhu Xuefeng, Falkenberg Maria, Viscomi Carlo

Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects

晚发型多酰基辅酶A脱氢酶缺乏症的诊断挑战:临床、形态学和遗传学方面

Lupica, Antonino; Oteri, Rosaria; Volta, Sara; Ghezzi, Daniele; Drago, Selene Francesca Anna; Rodolico, Carmelo; Musumeci, Olimpia; Toscano, Antonio