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

Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement

包涵体肌炎的肌肉影像学:MRI标准的完善及对上肢受累的认识

Torchia, Eleonora; Lucchini, Matteo; Verdu-Diaz, José; Bortolani, Sara; Ravera, Beatrice; Carlomagno, Vincenzo; Cicia, Alessandra; Bernardo, Daniela; Monforte, Mauro; Rehmann, Robert; Kley, Rudolf Andre; Sabatelli, Mario; Díaz-Manera, Jordi; Ricci, Enzo; Mirabella, Massimiliano; Tasca, Giorgio

Mitochondrial and energy metabolism dysfunctions are hallmarks of TDP-43(G376D) fibroblasts from members of an Amyotrophic Lateral Sclerosis family.

肌萎缩侧索硬化症家族成员的 TDP-43(G376D) 成纤维细胞的标志是线粒体和能量代谢功能障碍

Perciballi Elisa, Bovio Federica, Ferro Sara, Forcella Matilde, Rosati Jessica, Carletti Rose Mary, D'Anzi Angela, Gelati Maurizio, La Bella Vincenzo, Innocenti Metello, Spataro Rossella, Pecoraro Martina, Lombardi Ivan, Vulcano Edvige, Ruotolo Giorgia, Mercurio Sara, Sabatelli Mario, Lattante Serena, Malm Tarja, Ohtonen Sohvi, Vescovi Angelo Luigi, Fusi Paola, Ferrari Daniela

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13

与肌管蛋白相关蛋白2和13突变相关的夏科-马里-图斯病4B型(CMT4B)的疾病进展

Bertini, Alessandro; Reilly, Mary M; Pisciotta, Chiara; Previtali, Stefano C; Parman, Yesim; Battaloglu, Esra; Laurà, Matilde; Blake, Julian; Sacconi, Sabrina; Attarian, Shahram; Stojkovic, Tanya; Bellatache, Mounia; Nouioua, Sonia; Tazir, Meriem; Cakar, Arman; Gambardella, Antonio; Valentino, Paola; Lewis, Richard A; Horvath, Rita; Zambon, Alberto A; Sabatelli, Mario; Luigetti, Marco; Tozza, Stefano; Manganelli, Fiore; Herrmann, David N; Scherer, Steven S; Kressin, Nicole; Ward, Kailee; Bolino, Alessandra; Shy, Michael E; Pareyson, Davide

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy

含缬氨酸蛋白多系统蛋白病的肌肉活检结果

Schiava, Marianela; Parkhurst, Yolande; Henderson, Matthew; Polvikoski, Tuomo; Valtcheva, Manouela V; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Stojkovic, Tanya; Villar-Quiles, Rocio N; Romero, Norma Beatriz; Evangelista, Teresinha; Malfatti, Edoardo; Souvannanorath, Sarah; Pegoraro, Elena; Riguzzi, Pietro; Monforte, Mauro; Bortolani, Sara; Torchia, Eleonora; Sabatelli, Mario; Tasca, Giorgio; Straub, Volker; Marini-Bettolo, Chiara; Guglieri, Michela; Cetin, Hakan; Gelpi, Ellen; Klotz, Sigrid; De Bleecker, Jan L; Alonso-Jimenez, Alicia; Baets, Jonathan; De Ridder, Willem; De Jonghe, Peter; Claeys, Kristl G; Thal, Dietmar Rudolf; Bevilacqua, Jorge A; Luo, Sushan; Zhu, Wenhua; Lin, Jie; Papadimas, George; Papadopoulos, Constantinos; Zamba-Papanicolaou, Eleni; Xirou, Sophia; Pal, Endre; Rodolico, Carmelo; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Kaminska, Anna; Muelas, Nuria; Vilchez, Juan Jesus; Domínguez-González, Cristina; Hernandez-Lain, Aurelio; Alonso-Perez, Jorge; Nedkova-Hristova, Velina; Aledo, Carlos; Oldfors, Anders; Badrising, Umesh A; Kushlaf, Hani; Lloyd, Thomas E; Ikenaga, Chiseko; Alfano, Lindsay N; Quinn, Colin C; Walk, David; Vorgerd, Matthias; Weihl, Conrad; Olivé, Montse; Diaz-Manera, Jordi

Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset

功能性结局指标在脊髓延髓肌萎缩症药物研发优化中的应用:全球 SBMA 数据集荟萃分析结果

Huggett, Spencer B; Tebbenkamp, Andrew T N; Rinaldi, Carlo; Jayaseelan, Dipa; Zampedri, Luca; Blasi, Lorenzo; Fortuna, Andrea; Alqahtani, Abdullah; Kokkinis, Angela; Dahlqvist, Julia; Fenu, Silvia; Cavalca, Eleonora; Bertini, Alessandro; Mariotti, Caterina; Grunseich, Christopher; Kawase, Takahiro; Kishimoto, Yoshiyuki; Yamada, Shinichiro; Katsuno, Masahisa; Fratta, Pietro; Conte, Amelia; Sabatelli, Mario; Soraru, Gianni; Vissing, John; Kang, Minsung; Park, Jin-Sung; Pareyson, Davide; Viglietta, Vissia

Hospital admissions from the emergency department of adult patients affected by myopathies

因肌病入院的成年患者急诊科收治人数

Monforte, Mauro; Torchia, Eleonora; Bortolani, Sara; Ravera, Beatrice; Ricci, Enzo; Silvestri, Gabriella; Servidei, Serenella; Primiano, Guido; Mirabella, Massimiliano; Sabatelli, Mario; Mercuri, Eugenio; Franceschi, Francesco; Calabresi, Paolo; Covino, Marcello; Tasca, Giorgio

Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies

意大利患者的 CMT2T 临床和遗传特征证实了 MME 致病变异在特发性、迟发性轴突神经病中的重要性。

Geroldi, Alessandro; La Barbera, Andrea; Mammi, Alessia; Origone, Paola; Gaudio, Andrea; Ponti, Clarissa; Sanguineri, Francesca; Matà, Sabrina; Sperti, Martina; Carboni, Ilaria; Bellone, Emilia; Gotta, Fabio; Gemelli, Chiara; Massucco, Sara; Valeria, Guglielmino; Marinelli, Lucio; Grandis, Marina; Bisogni, Giulia; Sabatelli, Mario; Piscosquito, Giuseppe; Esposito, Gabriella; Schenone, Angelo; Manganelli, Fiore; Mandich, Paola; Tozza, Stefano; Luigetti, Marco

Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset

对无症状TTR基因突变携带者进行神经受累早期检测:探索疾病发作的潜在标志物

Romano, Angela; Guglielmino, Valeria; Bisogni, Giulia; Di Paolantonio, Andrea; Truini, Andrea; Minnella, Angelo Maria; Sciarrone, Maria Ausilia; Vitali, Francesca; Maceroni, Martina; Galosi, Eleonora; Sabatelli, Mario; Luigetti, Marco

Correction: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking

更正:POPDC蛋白突变对异源相互作用和膜转运的不同影响

Swan, Alexander H; Schindler, Roland F R; Savarese, Marco; Mayer, Isabelle; Rinné, Susanne; Bleser, Felix; Schänzer, Anne; Hahn, Andreas; Sabatelli, Mario; Perna, Francesco; Chapman, Kathryn; Pfuhl, Mark; Spivey, Alan C; Decher, Niels; Udd, Bjarne; Tasca, Giorgio; Brand, Thomas

Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene

对SOD1基因座中一种发散长链非编码RNA SOD1-DT的特征分析

Guerra, Marika; Meola, Lucia; Lattante, Serena; Conte, Amelia; Sabatelli, Mario; Sette, Claudio; Bernardini, Camilla