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

Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency

用于研究辅酶 Q10 缺乏症的小脑共济失调患者成纤维细胞的全外显子组测序研究

Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F R Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P Comi, Catarina Maria Quinzii, Alessio Di Fonzo

Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathy

在小鼠线粒体心肌病模型中,突变的 CHCHD10 会引起广泛的代谢重组,先于 OXPHOS 功能障碍

Nicole M Sayles, Nneka Southwell, Kevin McAvoy, Kihwan Kim, Alba Pesini, Corey J Anderson, Catarina Quinzii, Suzanne Cloonan, Hibiki Kawamata, Giovanni Manfredi

Brain pyrimidine nucleotide synthesis and Alzheimer disease

脑嘧啶核苷酸合成与阿尔茨海默病

Alba Pesini, Eldris Iglesias, M Pilar Bayona-Bafaluy, Nuria Garrido-Pérez, Patricia Meade, Paula Gaudó, Irene Jiménez-Salvador, Pol Andrés-Benito, Julio Montoya, Isidro Ferrer, Pedro Pesini, Eduardo Ruiz-Pesini