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

Accelerating Leigh syndrome drug discovery through deep learning screening in brain organoids

利用脑类器官深度学习筛选加速莱氏综合征药物研发

Menacho, Carmen; Okawa, Satoshi; Álvarez-Merz, Iris; Wittich, Annika; Muñoz-Oreja, Mikel; Lisowski, Pawel; Martín, Mario López; Pentimalli, Tancredi Massimo; Zakin, Shiri; Thevandavakkam, Mathuravani; Jerred, Caleb; Lickfett, Selene; Petersilie, Laura; Rybak-Wolf, Agnieszka; Seibt, Annette; Herebian, Diran; Inak, Gizem; Brodesser, Susanne; Zaliani, Andrea; Mlody, Barbara; Donnelly, Justin; Woleben, Kasey; Soriano, Francesc Xavier; Fernandez-Checa, Jose C; Ventura, Natascia; Cambridge, Sidney; Mayatepek, Ertan; Spinazzola, Antonella; Schuelke, Markus; Rajewsky, Nikolaus; Rossi, Andrea; Peralvarez-Marin, Alex; Distelmaier, Felix; Perlstein, Ethan; Holt, Ian J; Puighermanal, Emma; Pless, Ole; Rose, Christine R; Del Sol, Antonio; Prigione, Alessandro

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8

由MT-ATP6和MT-ATP8致病变异引起的线粒体ATPase缺乏症患者的自然病程

Carli, Sara; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio; Martinelli, Diego; Malandrini, Alessandro; Lopergolo, Diego; Gallus, Gian Nicola; Ganetzky, Rebecca D; La Morgia, Chiara; Carelli, Valerio; Primiano, Guido; Domínguez-González, Cristina; Serrano-Lorenzo, Pablo; Martín, Miguel A; Ardissone, Anna; Lamperti, Costanza; Nicoletta, Valeria; Klopstock, Thomas; Distelmaier, Felix; Zeng, Leopold; Büchner, Boriana; Mancuso, Michelangelo; Schuelke, Markus; Prigione, Alessandro; Garone, Caterina

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment

患有艾伦-赫恩登-达德利综合征(MCT8 缺乏症)的患者在儿童时期会出现帕金森病症状,并且对左旋多巴/卡比多巴治疗有反应。

Wilpert, Nina-Maria; Hewitt, Angela L; Pons, Roser; Henke, Marie-Thérèse; Dell'Orco, Andrea; Bauer, Martin; Grolik, Christiane; Menz, Stephan; Wahle, Monika; Zink, Annika; Prigione, Alessandro; Reinauer, Christina; Lange, Catharina; Furth, Christian; Brockmann, Knut; Jung-Klawitter, Sabine; Christ, Stine; Kaindl, Angela M; Tietze, Anna; Krude, Heiko; Opladen, Thomas; Schuelke, Markus

Neuronal branching in stem cell models of mitochondrial and neurological diseases

线粒体和神经系统疾病干细胞模型中的神经元分支

Lickfett, Selene; Menacho, Carmen; Cambridge, Sidney; Prigione, Alessandro

Brain organoid models of Huntington's disease shift the focus towards neurodevelopment

亨廷顿病的脑类器官模型将研究重点转移到神经发育方面

Xu, Wenqing; Prigione, Alessandro

Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization

扩大对莱氏综合征的研究和治疗:患者主导的倡导组织的努力

Zilber, Sophia; Burnworth, Melinda; Afolabi, Titilola; Brestoff, Jonathan R; Minczuk, Michal; Luis, Alejandro Rodriguez; Ling, Qinglan; Prigione, Alessandro; Tolle, Isabella; Elsharkawi, Ibrahim; Perlstein, Ethan; Boyce, Danielle; Johnson, Simon; Woleben, Kasey

Fetal and obstetrics manifestations of mitochondrial diseases

线粒体疾病的胎儿和产科表现

Adelizzi, Alessia; Giri, Anastasia; Di Donfrancesco, Alessia; Boito, Simona; Prigione, Alessandro; Bottani, Emanuela; Bollati, Valentina; Tiranti, Valeria; Persico, Nicola; Brunetti, Dario

Correction to: Fetal and obstetrics manifestations of mitochondrial diseases

更正:线粒体疾病的胎儿和产科表现

Adelizzi, Alessia; Giri, Anastasia; Di Donfrancesco, Alessia; Boito, Simona; Prigione, Alessandro; Bottani, Emanuela; Bollati, Valentina; Tiranti, Valeria; Persico, Nicola; Brunetti, Dario

Mitochondrial DNA integrity and metabolome profile are preserved in the human induced pluripotent stem cell reference line KOLF2.1J

人类诱导多能干细胞参考系KOLF2.1J的线粒体DNA完整性和代谢组谱得以保留。

Dobner, Jochen; Nguyen, Thach; Dunkel, Andreas; Prigione, Alessandro; Krutmann, Jean; Rossi, Andrea

Disease models of Leigh syndrome: From yeast to organoids

Leigh综合征的疾病模型:从酵母到类器官

Henke, Marie-Thérèse; Prigione, Alessandro; Schuelke, Markus