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

Associations between body image, well-being and eating behaviors in Lebanese adults aged between 18 and 35 years: a cross-sectional study

黎巴嫩18至35岁成年人身体形象、幸福感和饮食行为之间的关联:一项横断面研究

Karaa, Jana; Zalaket, Nadine; Assaf, Rabih; Chabtini, Marina; Al Kadamani, Sara; Sawaya, Lea; Attieh, Randa; Sacre, Yonna

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

Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives

MELAS 的体征、症状和健康相关生活质量:从患者和临床医生的角度衡量重要因素

Medrano, Paolo; Banderas, Benjamin; Brimmer, Marisa; Settel, Lily; Berger, Sari; Shields, Alan; Goldstein, Amy; Karaa, Amel; Larson, Austin; Parikh, Sumit; Scaglia, Fernando; Harrington, Karra Danyelle; Edgar, Chris James; Ventola, Pamela; Webster, Matthew; Chickering, Jennifer; Gwaltney, Chad; Wilson, Phebe; Glasser, Chad

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I

携带IDUA假性缺陷等位基因个体的长期健康结局或可为I型粘多糖贮积症的新生儿筛查提供参考。

Grady, Lauren O; Zoltick, Emilie S; Zouk, Hana; He, Wei; Perez, Emma; Clarke, Lorne; Gold, Jessica; Strong, Alanna; Sahai, Inderneel; Yeo, Julie; Green, Robert C; Karaa, Amel; Gold, Nina B

AI-Driven Radiology Report Generation for Traumatic Brain Injuries

人工智能驱动的创伤性脑损伤放射学报告生成

Bouslimi, Riadh; Trabelsi, Houda; Karaa, Wahiba Ben Abdessalem; Hedhli, Hana

T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood

T细胞活化有助于血液中针对MELAS相关m.3243A>G致病变异的纯化选择。

Melissa A Walker ,Shuqiang Li ,Kenneth J Livak ,Amel Karaa ,Catherine J Wu ,Vamsi K Mootha

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

在患有法布里病且肾功能恶化的患者中,培尼加糖酶α与阿加糖酶β的头对头试验:来自为期2年的随机III期BALANCE研究的结果

Wallace, Eric L; Goker-Alpan, Ozlem; Wilcox, William R; Holida, Myrl; Bernat, John; Longo, Nicola; Linhart, Aleš; Hughes, Derralynn A; Hopkin, Robert J; Tøndel, Camilla; Langeveld, Mirjam; Giraldo, Pilar; Pisani, Antonio; Germain, Dominique Paul; Mehta, Ankit; Deegan, Patrick B; Molnar, Maria Judit; Ortiz, Damara; Jovanovic, Ana; Muriello, Michael; Barshop, Bruce A; Kimonis, Virginia; Vujkovac, Bojan; Nowak, Albina; Geberhiwot, Tarekegn; Kantola, Ilkka; Knoll, Jasmine; Waldek, Stephen; Nedd, Khan; Karaa, Amel; Brill-Almon, Einat; Alon, Sari; Chertkoff, Raul; Rocco, Rossana; Sakov, Anat; Warnock, David G

Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial

依拉米普瑞肽对原发性线粒体肌病患者的基因型特异性效应:MMPOWER-3试验的事后分析

Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M; Falk, Marni J; Goldstein, Amy; Gorman, Gráinne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D S; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L K; Vissing, John; Vockley, Jerry; Finman, Jeffrey S; Abbruscato, Anthony; Brown, David A; Sullivan, Alana; Shiffer, James A; Mancuso, Michelango

Characterization of Fatigue in Primary Mitochondrial Myopathies: Findings From a Qualitative Interview Study

原发性线粒体肌病疲劳特征分析:一项定性访谈研究的发现

Karaa, Amel; Johnson, Nathan; Clarkson, Ian; Newman, Wendy; Dorenbaum, Alejandro; Cohen, Bruce H