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

Clinically translatable mitochondrial gene therapy in muscle using tandem mtZFN architecture.

利用串联 mtZFN 结构在肌肉中进行临床转化线粒体基因治疗

Nash Pavel A, Turner Keira M, Powell Christopher A, Van Haute Lindsey, Silva-Pinheiro Pedro, Bubeck Felix, Wiedtke Ellen, Marques Eloïse, Ryan Dylan G, Grimm Dirk, Gammage Payam A, Minczuk Michal

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease

伴有阵发性肌张力障碍和呼吸暂停的严重新生儿期起病神经退化:扩展CARS2相关线粒体疾病的表型和基因型谱

Poquérusse, Jessie; Nolan, Melinda; Thorburn, David R; Van Hove, Johan L K; Friederich, Marisa W; Love, Donald R; Taylor, Juliet; Powell, Christopher A; Minczuk, Michal; Snell, Russell G; Lehnert, Klaus; Glamuzina, Emma; Jacobsen, Jessie C

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

与肥厚型心肌病相关的ELAC2基因突变会损害线粒体tRNA 3'端加工。

Saoura, Makenzie; Powell, Christopher A; Kopajtich, Robert; Alahmad, Ahmad; Al-Balool, Haya H; Albash, Buthaina; Alfadhel, Majid; Alston, Charlotte L; Bertini, Enrico; Bonnen, Penelope E; Bratkovic, Drago; Carrozzo, Rosalba; Donati, Maria A; Di Nottia, Michela; Ghezzi, Daniele; Goldstein, Amy; Haan, Eric; Horvath, Rita; Hughes, Joanne; Invernizzi, Federica; Lamantea, Eleonora; Lucas, Benjamin; Pinnock, Kyla-Gaye; Pujantell, Maria; Rahman, Shamima; Rebelo-Guiomar, Pedro; Santra, Saikat; Verrigni, Daniela; McFarland, Robert; Prokisch, Holger; Taylor, Robert W; Levinger, Louis; Minczuk, Michal

The mammalian mitochondrial epitranscriptome

哺乳动物线粒体表观转录组

Rebelo-Guiomar, Pedro; Powell, Christopher A; Van Haute, Lindsey; Minczuk, Michal

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

PUS7基因变异会导致智力障碍,并伴有语言发育迟缓、小头畸形、身材矮小和攻击性行为。

de Brouwer, Arjan P M; Abou Jamra, Rami; Körtel, Nadine; Soyris, Clara; Polla, Daniel L; Safra, Modi; Zisso, Avia; Powell, Christopher A; Rebelo-Guiomar, Pedro; Dinges, Nadja; Morin, Violeta; Stock, Michael; Hussain, Mureed; Shahzad, Mohsin; Riazuddin, Saima; Ahmed, Zubair M; Pfundt, Rolph; Schwarz, Franziska; de Boer, Lonneke; Reis, André; Grozeva, Detilina; Raymond, F Lucy; Riazuddin, Sheikh; Koolen, David A; Minczuk, Michal; Roignant, Jean-Yves; van Bokhoven, Hans; Schwartz, Schraga

TRNT1 deficiency: clinical, biochemical and molecular genetic features

TRNT1 缺乏症:临床、生化和分子遗传学特征

Wedatilake, Yehani; Niazi, Rojeen; Fassone, Elisa; Powell, Christopher A; Pearce, Sarah; Plagnol, Vincent; Saldanha, José W; Kleta, Robert; Chong, W Kling; Footitt, Emma; Mills, Philippa B; Taanman, Jan-Willem; Minczuk, Michal; Clayton, Peter T; Rahman, Shamima

Mitochondrial transcript maturation and its disorders

线粒体转录本成熟及其紊乱

Van Haute, Lindsey; Pearce, Sarah F; Powell, Christopher A; D'Souza, Aaron R; Nicholls, Thomas J; Minczuk, Michal

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

线粒体脑肌病患者的VARS2和TARS2突变

Diodato, Daria; Melchionda, Laura; Haack, Tobias B; Dallabona, Cristina; Baruffini, Enrico; Donnini, Claudia; Granata, Tiziana; Ragona, Francesca; Balestri, Paolo; Margollicci, Maria; Lamantea, Eleonora; Nasca, Alessia; Powell, Christopher A; Minczuk, Michal; Strom, Tim M; Meitinger, Thomas; Prokisch, Holger; Lamperti, Costanza; Zeviani, Massimo; Ghezzi, Daniele