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

Respiratory chain deficiency in nonmitochondrial disease

非线粒体疾病中的呼吸链缺陷

Pyle, Angela; Nightingale, Helen J; Griffin, Helen; Abicht, Angela; Kirschner, Janbernd; Baric, Ivo; Cuk, Mario; Douroudis, Konstantinos; Feder, Lea; Kratz, Markus; Czermin, Birgit; Kleinle, Stephanie; Santibanez-Koref, Mauro; Karcagi, Veronika; Holinski-Feder, Elke; Chinnery, Patrick F; Horvath, Rita

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

利用全外显子组测序确定多种线粒体呼吸链复合物缺陷的遗传基础

Taylor, Robert W; Pyle, Angela; Griffin, Helen; Blakely, Emma L; Duff, Jennifer; He, Langping; Smertenko, Tania; Alston, Charlotte L; Neeve, Vivienne C; Best, Andrew; Yarham, John W; Kirschner, Janbernd; Schara, Ulrike; Talim, Beril; Topaloglu, Haluk; Baric, Ivo; Holinski-Feder, Elke; Abicht, Angela; Czermin, Birgit; Kleinle, Stephanie; Morris, Andrew A M; Vassallo, Grace; Gorman, Grainne S; Ramesh, Venkateswaran; Turnbull, Douglass M; Santibanez-Koref, Mauro; McFarland, Robert; Horvath, Rita; Chinnery, Patrick F

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

NDUFS8相关复合物I缺陷将表型从“PEO Plus”扩展至莱氏综合征

Marina, Adela Della; Schara, Ulrike; Pyle, Angela; Möller-Hartmann, Claudia; Holinski-Feder, Elke; Abicht, Angela; Czermin, Birgit; Lochmüller, Hanns; Griffin, Helen; Santibanez-Koref, Mauro; Chinnery, Patrick F; Horvath, Rita

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

RRM2B基因突变在伴有多处线粒体DNA缺失的家族性进行性眼外肌麻痹症(PEO)中较为常见。

Fratter, C; Raman, P; Alston, C L; Blakely, E L; Craig, K; Smith, C; Evans, J; Seller, A; Czermin, B; Hanna, M G; Poulton, J; Brierley, C; Staunton, T G; Turnpenny, P D; Schaefer, A M; Chinnery, P F; Horvath, R; Turnbull, D M; Gorman, G S; Taylor, R W

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

OPA1基因突变引起的显性视神经萎缩的患病率和自然病程

Yu-Wai-Man, Patrick; Griffiths, Philip G; Burke, Ailbhe; Sellar, Peter W; Clarke, Michael P; Gnanaraj, Lawrence; Ah-Kine, Desiree; Hudson, Gavin; Czermin, Birgit; Taylor, Robert W; Horvath, Rita; Chinnery, Patrick F

Physical and functional association of SU(VAR)3-9 and HDAC1 in Drosophila

果蝇中SU(VAR)3-9和HDAC1的物理和功能关联

Czermin, B; Schotta, G; Hülsmann, B B; Brehm, A; Becker, P B; Reuter, G; Imhof, A