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

COA5 has an essential role in the early stage of mitochondrial complex IV assembly

COA5 在线粒体复合物IV组装的早期阶段起着至关重要的作用

Jia Xin Tang, Alfredo Cabrera-Orefice, Jana Meisterknecht, Lucie S Taylor, Geoffray Monteuuis, Maria Ekman Stensland, Adam Szczepanek, Karen Stals, James Davison, Langping He, Sila Hopton, Tuula A Nyman, Christopher B Jackson, Angela Pyle, Monika Winter, Ilka Wittig, Robert W Taylor

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease

导致新生儿线粒体疾病的新型 FARS2 变异的临床和分子特征

Wenqian Chen, Preeya Rehsi, Kyle Thompson, Mildrid Yeo, Karen Stals, Langping He, Paul Schimmel, Zofia M A Chrzanowska-Lightowlers, Emma Wakeling, Robert W Taylor, Bernhard Kuhle

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease

号染色体的单亲异体性导致 MRPL44 相关多系统线粒体疾病

Alejandro Horga, Andreea Manole, Alice L Mitchell, Enrico Bugiardini, Iain P Hargreaves, Walied Mowafi, Conceição Bettencourt, Emma L Blakely, Langping He, James M Polke, Catherine E Woodward, Ilaria Dalla Rosa, Sachit Shah, Alan M Pittman, Ros Quinlivan, Mary M Reilly, Robert W Taylor, Ian J Holt, 

Metabolic effects of bezafibrate in mitochondrial disease

贝扎纤维酸在线粒体疾病中的代谢作用

Hannah Steele #, Aurora Gomez-Duran #, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo #, Rita Horvath #, Patrick F Chinnery #

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I

NDUFC2 中的双等位基因致病变异导致早发性 Leigh 综合征和复合物 I 的生物合成停滞

Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig #, Daniele Ghezzi #, Rober

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

NDUFAF8 致病性双等位基因突变导致 Leigh 综合征,并伴有单独的复合物 I 缺乏症

Charlotte L Alston, Mike T Veling, Juliana Heidler, Lucie S Taylor, Joseph T Alaimo, Andrew Y Sung, Langping He, Sila Hopton, Alexander Broomfield, Julija Pavaine, Jullianne Diaz, Eyby Leon, Philipp Wolf, Robert McFarland, Holger Prokisch, Saskia B Wortmann, Penelope E Bonnen, Ilka Wittig, David J P

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

在患有晚发性线粒体 DNA 维护障碍的患者中鉴定出一种新的杂合鸟苷酸还原酶 (GMPR) 变异体

Ewen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, Francesco Bruni, Kyle Thompson, Mariana Rocha, Emma L Blakely, Langping He, Gavin Falkous, Andrew M Schaefer, Patrick Yu-Wai-Man, Patrick F Chinnery, Lizbeth Hedstrom, Antonella Spinazzola, Robert W Taylor, Gráinne S Gorman

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement

线粒体翻译延长因子 (TSFM) 基因的新型复合突变导致严重的心肌病,并伴有心肌纤维脂肪替代

Elena Perli, Annalinda Pisano, Ruth I C Glasgow, Miriam Carbo, Steven A Hardy, Gavin Falkous, Langping He, Bruna Cerbelli, Maria Gemma Pignataro, Elisabetta Zacara, Federica Re, Paola Lilla Della Monica, Veronica Morea, Penelope E Bonnen, Robert W Taylor, Giulia d'Amati, Carla Giordano

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

线粒体丙氨酰-tRNA 合成酶的不稳定性是致命的婴儿型心肌病的根本原因

Ewen W Sommerville, Xiao-Long Zhou, Monika Oláhová, Janda Jenkins, Liliya Euro, Svetlana Konovalova, Taru Hilander, Angela Pyle, Langping He, Sultan Habeebu, Carol Saunders, Anna Kelsey, Andrew A M Morris, Robert McFarland, Anu Suomalainen, Gráinne S Gorman, En-Duo Wang, Isabelle Thiffault, Henna Ty

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

分子遗传学研究发现与 BCS1L 相关线粒体疾病相关的新临床表型

Monika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, Charlotte L Alston, Elisabeth Jameson, Simon A Jones, Noel Edwards, Langping He, Patrick F Chinnery, Rita Horvath, Paola Goffrini, Robert W Taylor, John A Sayer