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

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

SURF1 基因敲除克隆猪:早期出现严重致死表型

C Quadalti, D Brunetti, I Lagutina, R Duchi, A Perota, G Lazzari, R Cerutti, I Di Meo, M Johnson, E Bottani, P Crociara, C Corona, S Grifoni, V Tiranti, E Fernandez-Vizarra, A J Robinson, C Viscomi, C Casalone, M Zeviani, C Galli

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.

线粒体肽酶 PITRM1 缺陷与 Aβ 淀粉样变性神经退行性疾病有关

Brunetti Dario, Torsvik Janniche, Dallabona Cristina, Teixeira Pedro, Sztromwasser Pawel, Fernandez-Vizarra Erika, Cerutti Raffaele, Reyes Aurelio, Preziuso Carmela, D'Amati Giulia, Baruffini Enrico, Goffrini Paola, Viscomi Carlo, Ferrero Ileana, Boman Helge, Telstad Wenche, Johansson Stefan, Glaser Elzbieta, Knappskog Per M, Zeviani Massimo, Bindoff Laurence A

Loss of apoptosis-inducing factor critically affects MIA40 function

凋亡诱导因子的丧失严重影响 MIA40 的功能

K Meyer, S Buettner, D Ghezzi, M Zeviani, D Bano, P Nicotera

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation

扩展携带新型EARS2突变的丘脑和脑干受累及高乳酸血症(LTBL)患者的临床和磁共振谱

Biancheri, Roberta; Lamantea, Eleonora; Severino, Mariasavina; Diodato, Daria; Pedemonte, Marina; Cassandrini, Denise; Ploederl, Alexandra; Trucco, Federica; Fiorillo, Chiara; Minetti, Carlo; Santorelli, Filippo M; Zeviani, Massimo; Bruno, Claudio

The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy

APOE在莱伯遗传性视神经病变表型表达中的作用

Yu-Wai-Man, P; Morris, C M; Zeviani, M; Carrara, F; Turnbull, D M; Chinnery, P F