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

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

鸟苷酸激酶 1 缺乏症:一种新型且可能可治疗的线粒体 DNA 耗竭/缺失疾病

Hidalgo-Gutierrez Agustin, Shintaku Jonathan, Ramon Javier, Barriocanal-Casado Eliana, Pesini Alba, Saneto Russell P, Garrabou Gloria, Milisenda Jose Cesar, Matas-Garcia Ana, Gort Laura, Ugarteburu Olatz, Gu Yue, Koganti Lahari, Wang Tian, Tadesse Saba, Meneri Megi, Sciacco Monica, Wang Shuang, Tanji Kurenai, Horwitz Marshall S, Dorschner Michael O, Mansukhani Mahesh, Comi Giacomo Pietro, Ronchi Dario, Marti Ramon, Ribes Antonia, Tort Frederic, Hirano Michio

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

USMG5 阿什肯纳兹犹太人创始突变会损害线粒体复合物 V 二聚化和 ATP 合成。

Barca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth; Juanola-Falgarona, Marti; Gai, Xiaowu; Li, Dong; Jalas, Chaim; Hirsch, Yoel; Emmanuele, Valentina; Tadesse, Saba; Ziosi, Marcello; Akman, Hasan O; Chung, Wendy K; Tanji, Kurenai; McCormick, Elizabeth M; Place, Emily; Consugar, Mark; Pierce, Eric A; Hakonarson, Hakon; Wallace, Douglas C; Hirano, Michio; Falk, Marni J

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency

脱氧胞苷和脱氧胸苷治疗胸苷激酶2缺乏症

Lopez-Gomez, Carlos; Levy, Rebecca J; Sanchez-Quintero, Maria J; Juanola-Falgarona, Martí; Barca, Emanuele; Garcia-Diaz, Beatriz; Tadesse, Saba; Garone, Caterina; Hirano, Michio

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

脱氧嘧啶单磷酸旁路疗法治疗胸苷激酶2缺乏症

Garone, Caterina; Garcia-Diaz, Beatriz; Emmanuele, Valentina; Lopez, Luis C; Tadesse, Saba; Akman, Hasan O; Tanji, Kurenai; Quinzii, Catarina M; Hirano, Michio

Bioenergetic markers in skin fibroblasts of sporadic amyotrophic lateral sclerosis and progressive lateral sclerosis patients

散发性肌萎缩侧索硬化症和进行性侧索硬化症患者皮肤成纤维细胞中的生物能量标志物

Kirk, Kathryne; Gennings, Chris; Hupf, Jonathan C; Tadesse, Saba; D'Aurelio, Marilena; Kawamata, Hibiki; Valsecchi, Federica; Mitsumoto, Hiroshi; Manfredi, Giovanni

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review

辅酶Q10缺乏症的异质性:患者研究和文献综述

Emmanuele, Valentina; López, Luis C; Berardo, Andres; Naini, Ali; Tadesse, Saba; Wen, Bing; D'Agostino, Erin; Solomon, Martha; DiMauro, Salvatore; Quinzii, Catarina; Hirano, Michio

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

线粒体神经胃肠脑肌病的临床和遗传谱

Garone, Caterina; Tadesse, Saba; Hirano, Michio

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

胸苷磷酸化酶缺陷小鼠中脱氧核苷酸池失衡会导致线粒体DNA不稳定。

López, Luis C; Akman, Hasan O; García-Cazorla, Angeles; Dorado, Beatriz; Martí, Ramón; Nishino, Ichizo; Tadesse, Saba; Pizzorno, Giuseppe; Shungu, Dikoma; Bonilla, Eduardo; Tanji, Kurenai; Hirano, Michio

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

胸苷和脱氧尿苷在患有线粒体神经胃肠脑肌病(MNGIE)患者的组织中积聚。

Valentino, Maria Lucia; Martí, Ramon; Tadesse, Saba; López, Luis Carlos; Manes, Jose L; Lyzak, Judy; Hahn, Angelika; Carelli, Valerio; Hirano, Michio