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

Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction

基因分析和多模态成像证实了线粒体变异 m.12148 T > C 的致病性,导致多系统功能障碍。

Kinsley Belle ,Alexander Kreymerman ,Jill L Young ,Nirmal Vadgama ,Marco H Ji ,Sandeep Randhawa ,Juan Caicedo ,Megan Wong ,Stephanie P Muscat ,Casey A Gifford ,Richard T Lee ,Jamal Nasir ,Gregory M Enns ,Ioannis Karakikes ,Andrew M Schaefer ,Robert W Taylor ,Mark Mercola ,Dwight Koeberl ,Edward H Wood

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 MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

导致成人发病的线粒体疾病和孤立性复合物 I 缺乏症的新型 MT-ND 基因变异

Yi Shiau Ng, Kyle Thompson, Daniela Loher, Sila Hopton, Gavin Falkous, Steven A Hardy, Andrew M Schaefer, Sandip Shaunak, Mark E Roberts, James B Lilleker, Robert W Taylor

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

MT-CO2 中的一种新型致病变异导致孤立性线粒体复合物 IV 缺乏和晚发性小脑共济失调

Charlotte M Zierz, Karen Baty, Emma L Blakely, Sila Hopton, Gavin Falkous, Andrew M Schaefer, Marios Hadjivassiliou, Ptolemaios G Sarrigiannis, Yi Shiau Ng, Robert W Taylor

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

YARS2 相关线粒体肌病的临床特征、分子异质性及预后意义

Ewen W Sommerville, Yi Shiau Ng, Charlotte L Alston, Cristina Dallabona, Micol Gilberti, Langping He, Charlotte Knowles, Sophie L Chin, Andrew M Schaefer, Gavin Falkous, David Murdoch, Cheryl Longman, Marianne de Visser, Laurence A Bindoff, John M Rawles, John C S Dean, Richard K Petty, Maria E Farr