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

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency

甲羟戊酸激酶缺乏症引起的线粒体功能障碍导致的肌病和共济失调

Pugliese, Alessia; von Landenberg, Christina; Gallizzi, Romina; Migliorato, Alba; Pierno, Sabata; Rodolico, Carmelo; Kornblum, Cornelia; Arena, Ignazio Giuseppe; Kunz, Wolfram S; Reimann, Jens; Toscano, Antonio; Musumeci, Olimpia

Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation

庞贝病和I型粘多糖贮积症(MPS-I)患者居家静脉注射酶替代疗法(ERT)的长期安全性结果和患者偏好:两年观察的最终结果

Toscano, Antonio; Musumeci, Olimpia; Sacchini, Michele; Ravaglia, Sabrina; Siciliano, Gabriele; Fiumara, Agata; Verrecchia, Elena; Fischetto, Rita; Crescimanno, Grazia; Taurisano, Roberta; Sechi, Annalisa; Gasperini, Serena; Cianci, Vittoria; Maggi, Lorenzo; Brighina, Filippo; Barone, Rita; Cianflone, Annalia; Balzarini, Marta; Parini, Rossella; Scarpa, Maurizio

Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy

意大利肌病学会对阿塔卢伦治疗无义突变杜氏肌营养不良症的意见

Bello, Luca; Riguzzi, Pietro; Albamonte, Emilio; Astrea, Guja; Battini, Roberta; Barp, Andrea; Berardinelli, Angela L; Bertini, Enrico S; Brolatti, Noemi; Bruno, Claudio; Corti, Stefania; D'Amico, Adele; D'Angelo, Maria Grazia; Dallavalle, Gianfranco; Liguori, Rocco; Maggi, Lorenzo; Magri, Francesca; Mancuso, Michelangelo; Masson, Riccardo; Mercuri, Eugenio; Minetti, Carlo; Messina, Sonia; Mongini, Tiziana; Musumeci, Olimpia; Nigro, Vincenzo; Pane, Marika; Panicucci, Chiara; Pedemonte, Marina; Pini, Antonella; Politano, Luisa; Previtali, Stefano; Ricci, Federica; Ricci, Giulia; Ruggiero, Lucia; Sansone, Valeria; Siciliano, Gabriele; Trabacca, Antonio; Trucco, Federica; Velardo, Daniele; Pegoraro, Elena; Comi, Giacomo P

National diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey

意大利TK2缺乏症国家诊断缺口:来自AIM多中心调查的启示

Mancuso, Michelangelo; Lamperti, Costanza; Musumeci, Olimpia

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

脱氧鸟苷激酶缺乏症:自然病程和肝移植结果

Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Barić, Ivo; Petkovic Ramadza, Danijela; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, René; Servidei, Serenella; Bris, Céline; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cécile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina

Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale

改善晚发型庞贝病结局指标:改良的Rasch构建庞贝特异性活动量表

van Kooten, Harmke A; Horton, Mike C; Wenninger, Stephan; Babačić, Haris; Schoser, Benedikt; Lefeuvre, Claire; Taouagh, Najib; Laforêt, Pascal; Segovia, Sonia; Díaz-Manera, Jordi; Claeys, Kristl G; Mongini, Tiziana; Musumeci, Olimpia; Toscano, Antonio; Hundsberger, Thomas; Brusse, Esther; van Doorn, Pieter A; van der Ploeg, Ans T; van der Beek, Nadine A M E

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature

遗传性痉挛性截瘫46型(SPG46):意大利大型病例系列中发现新的GBA2变异及文献综述

Cioffi, Ettore; Coppola, Gianluca; Musumeci, Olimpia; Gallone, Salvatore; Silvestri, Gabriella; Rossi, Salvatore; Piemonte, Fiorella; D'Amico, Jessica; Tessa, Alessandra; Santorelli, Filippo Maria; Casali, Carlo

Focal myositis: a literature review of clinical and immunopathological aspects

局灶性肌炎:临床和免疫病理学方面的文献综述

Pugliese, Alessia; Migliorato, Alba; Barbaccia, Adele; Biasini, Fiammetta; Musumeci, Olimpia; Toscano, Antonio; Rodolico, Carmelo

Impact of bariatric surgery on clinical outcome in LOPD

减重手术对晚发性胰腺炎临床结局的影响

Porcino, Mattia; Guccione, Fabio; Usbergo, Cristian; Navarra, Giuseppe; Toscano, Antonio; Musumeci, Olimpia