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

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements

MELAS 和卒中样发作的诊断标准和管理:基于共识的声明

Mancuso, Michelangelo; Bellusci, Marcello; Carelli, Valerio; de Coo, Irenaeus; Diodato, Daria; Distelmaier, Felix; Hikmat, Omar; Hirano, Michio; Horvath, Rita; Karaa, Amel; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; La Morgia, Chiara; Lopriore, Piervito; Martikainen, Mika Henrik; McFarland, Robert; Musumeci, Olimpia; Pitceathly, Robert D S; Primiano, Guido; Rahman, Shamima; Scaglia, Fernando; Schaefer, Andrew; Schiff, Manuel; Semmler, Luisa; Lamperti, Costanza; Servidei, Serenella

Inhibition of the PI3K-AKT-MTORC1 axis reduces the burden of the m.3243A>G mtDNA mutation by promoting mitophagy and improving mitochondrial function

抑制PI3K-AKT-MTORC1轴可通过促进线粒体自噬和改善线粒体功能来减轻m.3243A>G mtDNA突变的负担。

Chih-Yao Chung ,Kritarth Singh ,Preethi Sheshadri ,Gabriel E Valdebenito ,Anitta R Chacko ,María Alicia Costa Besada ,Xiao Fei Liang ,Lida Kabir ,Robert D S Pitceathly ,Gyorgy Szabadkai ,Michael R Duchen

Optimizing rare disorder trials: a phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease

优化罕见病试验:KL1333 治疗成人线粒体疾病的 1a/1b 期随机研究

Pizzamiglio, Chiara; Stefanetti, Renae J; McFarland, Robert; Thomas, Naomi; Ransley, George; Hugerth, Matilda; Grönberg, Alvar; Serrano, Sonia Simon; Elmér, Eskil; Hanna, Michael G; Hansson, Magnus J; Gorman, Gráinne S; Pitceathly, Robert D S

Contemporary insights into elamipretide's mitochondrial mechanism of action and therapeutic effects

对依拉米普瑞肽线粒体作用机制和治疗效果的最新认识

Sabbah, Hani N; Alder, Nathan N; Sparagna, Genevieve C; Bruce, James E; Stauffer, Brian L; Chao, Luke H; Pitceathly, Robert D S; Maack, Christoph; Marcinek, David J

Metabolic remodeling in hiPSC-derived myofibers carrying the m.3243A>G mutation.

携带 m.3243A>G 突变的 hiPSC 衍生肌纤维的代谢重塑

Valdebenito Gabriel E, Chacko Anitta R, Chung Chih-Yao, Sheshadri Preethi, Chi Haoyu, O'Callaghan Benjamin, Madej Monika J, Houlden Henry, Rouse Hannah, Morales Valle, Bianchi Katiuscia, Tedesco Francesco Saverio, Pitceathly Robert D S, Duchen Michael R

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

Activating AMPK improves pathological phenotypes due to mtDNA depletion.

激活 AMPK 可改善由 mtDNA 耗竭引起的病理表型

Carvalho Gustavo, Nguyen Tran V H, Repolês Bruno, Forslund Josefin M E, Wijethunga W M Ruchitha Rukmal, Ranjbarian Farahnaz, Mendes Isabela C, Gorospe Choco Michael, Chaudhari Namrata, Falabella Micol, Doimo Mara, Wanrooij Sjoerd, Pitceathly Robert D S, Hofer Anders, Wanrooij Paulina H

The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single-Centre Study

代谢检测在成人NORSE诊断评估中的作用:一项回顾性单中心研究

Kilmer, Jennifer; Ransley, George; Murphy, Elaine; Hanna, Michael G; Pitceathly, Robert D S; Rajakulendran, Sanjeev; Pizzamiglio, Chiara

Better translation via collaboration: The MRC National Mouse Genetics Network

通过合作实现更佳翻译:MRC国家小鼠遗传学网络

Sansom, Owen; Wells, Sara; Kent, David; Wood, Andrew; Pitceathly, Robert D S; Isles, Anthony; Liu, Karen; Twigg, Stephen; Blyth, Karen; Chesler, Louis

Beyond the cochlea: exploring the multifaceted nature of hearing loss in primary mitochondrial diseases

超越耳蜗:探索原发性线粒体疾病听力损失的多方面性质

Koohi, Nehzat; Holmes, Sarah; Male, Amanda; Bamiou, Doris-Eva; Dudziec, Magdalena M; Ramdharry, Gita M; Pizzamiglio, Chiara; Hanna, Michael G; Pitceathly, Robert D S; Kaski, Diego