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

Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity

免疫细胞线粒体表型在各种线粒体疾病中基本保持不变,并且与疾病严重程度无关。

Liu, Cynthia C; Kurade, Mangesh; Monzel, Anna S; Kelly, Catherine; Juster, Robert-Paul; Trumpff, Caroline; Hirano, Michio; Picard, Martin

4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity

4,5-二羟基己酸是线粒体疾病及其严重程度的可靠循环和尿液标志物。

Skinner, Owen S; Miranda, Maria; Dong, Fangcong; Struhl, Tessa; Walker, Melissa A; Schleifer, Grigorij; Henke, Matthew T; Clardy, Jon; Hirano, Michio; De Vivo, Darryl C; Schon, Eric A; Engelstad, Kristin; Siegmund, Stephanie E; Laprise, Catherine; Des Rosiers, Christine; Mootha, Vamsi K; Sharma, Rohit

Mitochondrial and psychosocial stress-related regulation of FGF21 in humans

线粒体和心理社会应激相关的FGF21在人类中的调节

Kurade, Mangesh; Bobba-Alves, Natalia; Kelly, Catherine; Behnke, Alexander; Conklin, Quinn; Juster, Robert-Paul; Hirano, Michio; Trumpff, Caroline; Picard, Martin

Pyrimidine Nucleos(t)ide Therapy in Patients With Thymidine Kinase 2 Deficiency: A Multicenter Retrospective Chart Review Study

嘧啶核苷(酸)类药物治疗胸苷激酶2缺乏症患者:一项多中心回顾性病历分析研究

Domínguez-González, Cristina; Chiang, Carl; Colson, Anny-Odile; Rebollo Mesa, Irene; Baixauli, Ester; Quan, Joanne; VanMeter, Susan; Hirano, Michio

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey

线粒体疾病患者死亡相关因素的特征分析:一项多中心横断面调查

Ivaniuk, Alina; Anselm, Irina A; Bowen, Aaron; Cohen, Bruce H; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C; Ganetzky, Rebecca D; Gannon, Jennifer; Gorman, Grainne S; Greene, Carol; Gropman, Andrea L; Haas, Richard H; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin; Lichter-Konecki, Uta; Lopriore, Piervito; Mancuso, Michelangelo; McFarland, Robert; Moe, Aye Myat; Morava, Eva; Ng, Yi Shiau; Saneto, Russell P; Scaglia, Fernando; Sue, Carolyn M; Tarnopolsky, Mark; Walker, Melissa A; Parikh, Sumit; Cheuk-Wing, Fung; Wong, Tsz-Sum; Belaramani, Kiran; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Cheung, Hon-Wing; Cheung, Ka-Yin; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Tsz-Fung; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin B; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Law, Hiu-Fung; Lee, Wing-Cheong; Hencher Lee, Han-Chih; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Colin; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Hg, Sui-Fun; Poon, Wing-Kit Grace; Sheng, Bun; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tang, Jing-Liang; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Wu, Hui-Jun; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap

Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data

利用基于加速度计数据的新型统计技术评估线粒体疾病治疗效果

McKeague, Ian W; Engelstad, Kristin; Ge, Yue; Tucker, Amber; Li, Shufang; Uddin, Jasim; Zhao, Ziwei; Thompson, John L P; Hirano, Michio

Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort

TK2 缺乏症的临床和分子谱:一项大型巴西队列研究

Moreno, Cristiane Araujo Martins; Artilheiro, Mariana Cunha; Fonseca, Alulin Tacio Quadros Santos Monteiro; da Silva, André Macedo Serafim; Fernandes, Tatiana Ribeiro; Camelo, Clara Gontijo; Paiva, Michelle Abdo; di Pace, Filipe Tupinamba; Pessoa, Andre Luiz Santos; Braga, Vitor Lucas Lopes; Mariano, Tamiris Carneiro; de Paula Estephan, Eduardo; da Penha Morita, Maria; Covaleski, Anna Paula Paranhos Miranda; Van der Linden, Vanessa; Tomaselli, Pedro José; Scarpellini, Giuliano Roberto; Gurgel-Giannetti, Juliana; Sobrinho, Lívia Maria Ferreira; de Oliveira, Thais Martins; Mendonça, Rodrigo Holanda; Lucas, Elizabeth Lemos Silveira; Cruzeiro, Marcelo Maroco; Junior, Carlos Wagner Pereira; Júnior, Wilson Marques; Sobreira, Claudia Ferreira da Rosa; Oliveira, Acary Sousa Bulle; Kok, Fernando; Hirano, Michio; Nascimento-Osorio, Andres; Schlesinger, David; Zanoteli, Edmar

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen

对接受诺西那生治疗的SMA II型和III型患者进行4年HFMSE评分变化的纵向评估

Coratti, Giorgia; Bovis, Francesca; Pane, Marika; Pasternak, Amy; Albamonte, Emilio; Mizzoni, Irene; Glanzman, Allan M; Morando, Simone; Montes, Jacqueline; Cavallina, Ilaria; Dunaway Young, Sally; Duong, Tina; Rolle, Enrica; Civitello, Matthew; De Sanctis, Roberto; Bravetti, Chiara; Ricci, Federica; Gadaleta, Giulio; Mongini, Tiziana; Sframeli, Maria; Pera, Maria Carmela; Messina, Sonia; D'Amico, Adele; Catteruccia, Michela; Brolatti, Noemi; Hirano, Michio; Zolkipli-Cunningham, Zarazuela; Darras, Basil T; Bertini, Enrico; Bruno, Claudio; Day, John; Sansone, Valeria A; Finkel, Richard S; Mercuri, Eugenio

Saliva and blood cell-free mtDNA reactivity to acute psychosocial stress

唾液和血液中游离线粒体DNA对急性社会心理压力的反应性

Trumpff, Caroline; Shire, David; Michelson, Jeremy; Bobba-Alves, Natalia; Yu, Temmie; Sloan, Richard P; Juster, Robert-Paul; Hirano, Michio; Picard, Martin