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

Gene therapy prevents hepatic mitochondrial dysfunction in murine deoxyguanosine kinase deficiency

基因疗法可预防小鼠脱氧鸟苷激酶缺乏症引起的肝线粒体功能障碍

Keshavan, Nandaki; Greenwood, Miriam; Prunty, Helen; Diaz, Juan Antinao; Privolizzi, Riccardo; Counsell, John; Karlsson, Anna; Sebire, Neil; Waddington, Simon; Karda, Rajvinder; Rahman, Shamima

Complex I deficiency remains the most frequent cause of Leigh syndrome spectrum

复合物I缺乏症仍然是莱氏综合征谱系疾病最常见的病因。

Rahman, Shamima

Therapies for Mitochondrial Disease: Past, Present, and Future

线粒体疾病的治疗:过去、现在和未来

Ball, Megan; van Bergen, Nicole J; Compton, Alison G; Thorburn, David R; Rahman, Shamima; Christodoulou, John

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care

欧洲针对患有遗传性代谢疾病的儿童和成人的姑息治疗:一项未充分利用的支持性治疗和护理服务

Lee, Anja; Bliksrud, Yngve Thomas; Onali, Michela; Neugebauer, Julia; Eyskens, Francois; Haas, Dorothea; Mossler, Karin; Enekwe, Antije; Kiec-Wilk, Beata; Diep, Lien My; Bellettato, Cinzia Maria; Zernikow, Boris; Scarpa, Maurizio; Rahman, Shamima; Tangeraas, Trine

Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey

目前全球维生素和辅因子在原发性线粒体疾病中的处方实践:一项欧洲参考网络调查的结果

Neugebauer, Julia; Reinson, Karit; Bellusci, Marcello; Park, Julien H; Hikmat, Omar; Bertini, Enrico; Schiff, Manuel; Rahman, Shamima

Mitochondrial membrane synthesis, remodelling and cellular trafficking

线粒体膜的合成、重塑和细胞运输

Messina, Martina; Vaz, Frédéric M; Rahman, Shamima

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

常染色体显性遗传性HK1相关神经发育障碍伴视觉缺陷和脑部异常(NEDVIBA):一种新出现的线粒体疾病

Ng, Bobby G; Eklund, Erik A; Rosenfeld, Jill A; Elias, Abdallah F; Abu-El-Haija, Aya; Bris, Celine; Barth, Magalie; Chae, Jong-Hee; Choi, Murim; Dubbs, Holly A; Fratter, Carl; Foulds, Nicola; Gamble, Candace; Gavrilova, Ralitza H; Haven, Jaclyn; Hoffman, Trevor L; Hunter, Jill V; Larson, Austin; Lotze, Timothy Edward; Magoulas, Pilar; Magness, Emily C; Bootin, Debra M; Marsh, Eric D; Nesbitt, Victoria; Pastore, Matthew T; Poulton, Joanna; Rahman, Shamima; Scaglia, Fernando; Murali, Chaya; Posey, Jennifer; Rotenberg, Joshua; Schmalz, Betsy; Shinde, Deepali N; Powis, Zöe; Sukenik-Halevy, Rivka; Truxal, Kristen V; Uster, Tami; Machado Bressan Wilke, Matheus Vernet; Klee, Erik; Woo, Hyewon; Younkin, Donald; Zhao, Jianhua; Granadillo, Jorge; Lalani, Seema; Chitayat, David; Chung, Wendy K; Freeze, Hudson H; Okur, Volkan

Endocrine Dysfunction in Primary Mitochondrial Diseases

原发性线粒体疾病中的内分泌功能障碍

Varughese, Rachel; Rahman, Shamima

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

泛硫乙胺可改善 PPCS 缺乏症患者和细胞系模型中的扩张型心肌病特征

Zhang Fangfang, Dorn Tatjana, Gnutti Barbara, Anikster Yair, Kuebler Sarah, Ahrens-Nicklas Rebecca, Gosselin Rachel, Rahman Shamima, Durst Ronen, Zanuttigh Enrica, Güra Miriam A, Poch Christine M, Meier Anna B, Laugwitz Karl-Ludwig, Schüller Hans-Joachim, Messias Ana C, Sibon Ody C, Finazzi Dario, Rippert Alyssa, Li Dong, Truxal Kristen, Nandi Deipanjan, Lampert Brent C, Yeo Mildrid, Gardham Alice, Nissan Batel, Horowitz Cederboim Smadar, Moretti Alessandra, Iuso Arcangela