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

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

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome

FASTKD5基因的双等位基因突变与细胞色素c氧化酶缺乏症以及早发型或晚发型莱氏综合征相关。

Antonicka, Hana; Weraarpachai, Woranontee; Szigety, Katherine M; Kopajtich, Robert; Gibson, James B; Van Hove, Johan L K; Friederich, Marisa W; Lopriore, Piervito; Neuhofer, Christiane; Van Hove, Roxanne A; Cole, Michel A; Reisdorph, Richard; Peterson, James T; Dempsey, Katherine J; Ganetzky, Rebecca D; Mancuso, Michelangelo; Prokisch, Holger; Shoubridge, Eric A

Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey

欧盟国家原发性线粒体疾病的现状管理:欧洲参考网络调查

Mancuso, Michelangelo; Lopriore, Piervito; Lamperti, Costanza; Klopstock, Thomas; Rahman, Shamima; Licchetta, Laura; Kornblum, Cornelia; Wortmann, Saskia B; Dollfus, Hélène; Papadopoulou, Maria T; Arzimanoglou, Alexis; Scarpa, Maurizio; Graessner, Holm; Evangelista, Teresinha

Primary Coenzyme Q10 Deficiency-Related Ataxias

原发性辅酶Q10缺乏相关性共济失调

Lopriore, Piervito; Vista, Marco; Tessa, Alessandra; Giuntini, Martina; Caldarazzo Ienco, Elena; Mancuso, Michelangelo; Siciliano, Gabriele; Santorelli, Filippo Maria; Orsucci, Daniele

Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis

线粒体帕金森病:基因与临床诊断实用指南

Lopriore, Piervito; Palermo, Giovanni; Meli, Adriana; Bellini, Gabriele; Benevento, Elena; Montano, Vincenzo; Siciliano, Gabriele; Mancuso, Michelangelo; Ceravolo, Roberto

The use of digital tools in rare neurological diseases towards a new care model: a narrative review

数字工具在罕见神经系统疾病治疗中应用:迈向新型护理模式的叙述性综述

Torri, Francesca; Vadi, Gabriele; Meli, Adriana; Loprieno, Sara; Schirinzi, Erika; Lopriore, Piervito; Ricci, Giulia; Siciliano, Gabriele; Mancuso, Michelangelo

Qualitative and quantitative characteristics of CEUS for renal cell carcinoma and angiomyolipoma: a narrative review

肾细胞癌和肾血管平滑肌脂肪瘤的CEUS定性和定量特征:叙述性综述

Dipinto, Piervito; Canale, Vittorio; Minelli, Rocco; Capuano, Marco Alex; Catalano, Orlando; Di Pierro, Giovanni Battista; Anceschi, Umberto; Perdonà, Sisto; Tufano, Antonio

Frontotemporal Dementia, Where Do We Stand? A Narrative Review

额颞叶痴呆:我们目前的研究进展如何?一篇叙述性综述

Antonioni, Annibale; Raho, Emanuela Maria; Lopriore, Piervito; Pace, Antonia Pia; Latino, Raffaela Rita; Assogna, Martina; Mancuso, Michelangelo; Gragnaniello, Daniela; Granieri, Enrico; Pugliatti, Maura; Di Lorenzo, Francesco; Koch, Giacomo

Pathophysiology and Management of Fatigue in Neuromuscular Diseases

神经肌肉疾病中疲劳的病理生理学及治疗

Torri, Francesca; Lopriore, Piervito; Montano, Vincenzo; Siciliano, Gabriele; Mancuso, Michelangelo; Ricci, Giulia