日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment

ExoBand:一种用于神经肌肉疾病患者步行辅助的被动式可穿戴设备:首次定量评估

Semplicini, Claudio; Agostini, Michela; Andrigo, Cinzia; Masiero, Stefano; Piccione, Francesco; Sorarù, Gianni

Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis

缺乏COL6/胶原蛋白VI会通过损害自噬和诱导细胞凋亡导致巨核细胞功能障碍。

Vittorio Abbonante ,Alessandro Malara ,Martina Chrisam ,Samuele Metti ,Paolo Soprano ,Claudio Semplicini ,Luca Bello ,Valeria Bozzi ,Monica Battiston ,Alessandro Pecci ,Elena Pegoraro ,Luigi De Marco ,Paola Braghetta ,Paolo Bonaldo ,Alessandra Balduini

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

晚发型庞贝病(LOPD)中糖原合成和分解代谢基因外显子变异的分布

De Filippi, Paola; Errichiello, Edoardo; Toscano, Antonio; Mongini, Tiziana; Moggio, Maurizio; Ravaglia, Sabrina; Filosto, Massimiliano; Servidei, Serenella; Musumeci, Olimpia; Giannini, Fabio; Piperno, Alberto; Siciliano, Gabriele; Ricci, Giulia; Di Muzio, Antonio; Rigoldi, Miriam; Tonin, Paola; Croce, Michele Giovanni; Pegoraro, Elena; Politano, Luisa; Maggi, Lorenzo; Telese, Roberta; Lerario, Alberto; Sancricca, Cristina; Vercelli, Liliana; Semplicini, Claudio; Pasanisi, Barbara; Bembi, Bruno; Dardis, Andrea; Palmieri, Ilaria; Cereda, Cristina; Valente, Enza Maria; Danesino, Cesare

Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction

胶原蛋白 VI 缺乏导致行为异常和皮质多巴胺能功能障碍

Ilaria Gregorio, Maddalena Mereu, Gabriella Contarini, Luca Bello, Claudio Semplicini, Francesca Burgio, Loris Russo, Stefania Sut, Stefano Dall'Acqua, Paola Braghetta, Carlo Semenza, Elena Pegoraro, Francesco Papaleo, Paolo Bonaldo, Matilde Cescon

Ablation of collagen VI leads to the release of platelets with altered function

胶原蛋白 VI 的消融导致功能改变的血小板释放

Vittorio Abbonante, Cristian Gruppi, Monica Battiston, Alessandra Zulian, Christian Andrea Di Buduo, Martina Chrisam, Lucia Sereni, Pierre-Alexandre Laurent, Claudio Semplicini, Elisabetta Lombardi, Mario Mazzucato, Francesco Moccia, Valeria Petronilli, Anna Villa, Luca Bello, Elena Pegoraro, Paolo

Stroke management during the coronavirus disease 2019 (COVID-19) pandemic: experience from three regions of the north east of Italy (Veneto, Friuli-Venezia-Giulia, Trentino-Alto-Adige)

2019冠状病毒病(COVID-19)大流行期间中风管理:来自意大利东北部三个地区(威尼托、弗留利-威尼斯朱利亚、特伦蒂诺-上阿迪杰)的经验

Manganotti, Paolo; Naccarato, Marcello; Scali, Ilario; Cappellari, Manuel; Bonetti, Bruno; Burlina, Alessandro; Turinese, Emanuele; Bogo, Sabrina; Teatini, Francesco; Franchini, Enrica; Caneve, Giorgio; Ruzza, Giampietro; Gaudenzi, Anna; Bombardi, Roberto; Bozzato, Giulio; Padoan, Roberta; Gentile, Carolina; Rana, Michele; Turazzini, Michelangelo; Alessandra, Danese; Brigo, Francesco; Nardone, Raffaele; Quatrale, Rocco; Menegazzo, Elisabetta; Masato, Maela; Novello, Stefano; Passadore, Paolo; Baldi, Antonio; Valentinis, Luca; Baracchini, Claudio; Pieroni, Alessio; Basile, Anna Maria; Semplicini, Claudio; Piffer, Silvio; Giometto, Bruno; Tonello, Simone; Bonifatti, Domenico Marco; Lorenzut, Simone; Merlino, Giovanni; Valente, Maria Rosaria; Paladin, Francesco; Tonon, Agnese; de Luca, Cristina; Perini, Francesco; Centonze, Sandro; Bovi, Paolo

Assessment of disease progression in dysferlinopathy: A 1-year cohort study

肌营养不良症疾病进展评估:一项为期1年的队列研究

Moore, Ursula; Jacobs, Marni; James, Meredith K; Mayhew, Anna G; Fernandez-Torron, Roberto; Feng, Jia; Cnaan, Avital; Eagle, Michelle; Bettinson, Karen; Rufibach, Laura E; Lofra, Robert Muni; Blamire, Andrew M; Carlier, Pierre G; Mittal, Plavi; Lowes, Linda Pax; Alfano, Lindsay; Rose, Kristy; Duong, Tina; Berry, Katherine M; Montiel-Morillo, Elena; Pedrosa-Hernández, Irene; Holsten, Scott; Sanjak, Mohammed; Ashida, Ai; Sakamoto, Chikako; Tateishi, Takayuki; Yajima, Hiroyuki; Canal, Aurélie; Ollivier, Gwenn; Decostre, Valerie; Mendez, Juan Bosco; Sánchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Shierbecker, Jeanine; Florence, Julaine M; Vandevelde, Bruno; DeWolf, Brittney; Hutchence, Meghan; Gee, Richard; Prügel, Juliana; Maron, Elke; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Díaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker

The clinical spectrum of CASQ1-related myopathy.

CASQ1相关肌病的临床谱

Semplicini Claudio, Bertolin Cinzia, Bello Luca, Pantic Boris, Guidolin Francesca, Vianello Sara, Catapano Francesco, Colombo Irene, Moggio Maurizio, Gavassini Bruno F, Cenacchi Giovanna, Papa Valentina, Previtero Marco, Calore Chiara, Sorarù Gianni, Minervini Giovanni, Tosatto Silvio C E, Stramare Roberto, Pegoraro Elena

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

肌纤维蛋白病患者的肌肉磁共振成像:模式识别及其对临床试验的意义

Diaz-Manera, Jordi; Fernandez-Torron, Roberto; LLauger, Jaume; James, Meredith K; Mayhew, Anna; Smith, Fiona E; Moore, Ursula R; Blamire, Andrew M; Carlier, Pierre G; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Jacobs, Marni; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Smith, Mark; Stramare, Roberto; Rampado, Alessandro; Sato, Noriko; Tamaru, Takeshi; Harwick, Bruce; Rico Gala, Susana; Turk, Suna; Coppenrath, Eva M; Foster, Glenn; Bendahan, David; Le Fur, Yann; Fricke, Stanley T; Otero, Hansel; Foster, Sheryl L; Peduto, Anthony; Sawyer, Anne Marie; Hilsden, Heather; Lochmuller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study

青少年时期运动与肌营养不良症症状提前出现相关:一项回顾性队列研究

Moore, Ursula R; Jacobs, Marni; Fernandez-Torron, Roberto; Jang, Jiji; James, Meredith K; Mayhew, Anna; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Cnaan, Avital; Carlier, Pierre G; Blamire, Andrew; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Diaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker