Results 211 to 220 of about 6,089,967 (287)
Leigh Syndrome Mouse Model Can Be Rescued by Interventions that Normalize Brain Hyperoxia, but Not HIF Activation.
Cell Metabolism, 2019 I. Jain, Luca Zazzeron, O. Goldberger, Eizo Marutani, G. Wojtkiewicz, Tslil Ast, Hong Wang, Grigorij Schleifer, Anna Stepanova, K. Brepoels, L. Schoonjans, P. Carmeliet, A. Galkin, F. Ichinose, W. Zapol, V. Mootha +15 moresemanticscholar +1 more sourceIdentification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing. [PDF]
NeurogeneticsLi BG, Wu WJ, Wang LH, Wang X, Liu C, Du YK, Li BC, Hu JT, Sun SZ. +8 moreeuropepmc +1 more sourceComplex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome
Olatz Ugarteburu, Laia Farré-Tarrats, Gerard Muñoz‐Pujol, María Unceta Suárez, Javier de las Heras, Ainhoa García-Ribes, Arantza Arza-Ruesga, Belén de la Morena, Gianluca Arauz‐Garofalo, Marina Gay, Glòria Garrabou, Javier Corral, Marta Vilaseca, Antònia Ribes, Judit García‐Villoria, Laura Gort, Frederic Tort +16 moreopenalex +1 more sourceClinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations
, 2018 Xiaolin Yu, Chuanzhu Yan, Kunqian Ji, Pengfei Lin, Xuebi Xu, Tingjun Dai, Wei Li, Yuying Zhao +7 moreopenalex +1 more sourceIARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency. [PDF]
Orphanet J Rare DisDong Q, Yin X, Fan S, Zhong S, Yang W, Chen K, Wang Q, Ma X, Mahlatsi RL, Yang Y, Lyu J, Fang H, Wang Y. +12 moreeuropepmc +1 more source
