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

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

致病性 PDE12 变异会损害线粒体 RNA 处理,从而导致新生儿线粒体疾病

Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petril

Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation

伴有脑干和脊髓受累及乳酸升高 (LBSL) 的白质脑病:一个新家族和一种新型 DARS2 突变的报告

Wei-Lin Huang, Maija R Steenari, Rebekah Barrick, Mariella T Simon, Richard Chang, Shaya S Eftekharian, Alexander Stover, Philip H Schwartz, Alexandra Latini, Jose E Abdenur

Cancer stem cells from a rare form of glioblastoma multiforme involving the neurogenic ventricular wall

来自一种罕见的多形性胶质母细胞瘤的癌症干细胞,涉及神经源性心室壁

Shengwen Calvin Li, Long T Vu, Hector W Ho, Hong Zhen Yin, Vic Keschrumrus, Qiang Lu, Jun Wang, Heying Zhang, Zhiwei Ma, Alexander Stover, John H Weiss, Philip H Schwartz, William G Loudon