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

A comprehensive framework for the interpretation of TTN missense variants

用于解释 TTN 错义变异的综合框架

Di Feo, Maria Francesca; Rees, Martin; Lillback, Victoria; Kho, Ay Lin; Meybatova, Angelina; Holt, Mark; Jungbluth, Heinz; Muntoni, Francesco; Baranello, Giovanni; Sarkozy, Anna; Fiorillo, Chiara; Baratto, Serena; Bruno, Claudio; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Brolatti, Noemi; Faravelli, Francesca; Zara, Federico; Mandarà, G M Luana; Beggs, Alan H; Genetti, Casie A; Barraza-Flores, Pamela; Rodolico, Carmelo; Messina, Sonia; Schnabel, Franziska; Balogh, Istvan; Szakszon, Katalin; Sarv, Siiri; Õunap, Katrin; Ricci, Federica Silvia; Mussa, Alessandro; Malfatti, Edoardo; Bertini, Enrico Silvio; D'Amico, Adele; Diodato, Daria; Catteruccia, Michela; Ravenscroft, Gianina; Johari, Mridul; Kurbatov, Sergei A; Chausova, Polina; Murtazina, Aysylu; Kuchina, Anna; Shchagina, Olga; Drakos, Minas; Spilioti, Martha; Evangeliou, Athanasios E; Zaganas, Ioannis; Zhong, Huahua; Luo, Sushan; Merlini, Luciano; Nguyen, Cam-Tu-Emilie; Tasca, Giorgio; Reeves, Tara; Mörner, Stellan; Danielsson, Olof; Udd, Bjarne; Gautel, Mathias; Savarese, Marco

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

双等位基因 PAX7 变异体引起一种新型卫星细胞病,伴有进行性肌肉受累,类似于面肩肱型肌营养不良症。

Ganassi Massimo, Strafella Claudia, Savarese Marco, Heher Philipp, Engquist Elise N, McGuire Liam, Johari Mridul, De Nicola Gian F, Bigot Anne, Mouly Vincent, Bortolani Sara, Torchia Eleonora, Monforte Mauro, Megalizzi Domenica, Sabino Andrea, Ricci Enzo, Giardina Emiliano, Zammit Peter S, Tasca Giorgio

Brachio-cervical inflammatory myopathy: multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosis

臂颈炎症性肌病:对一种与系统性硬化症有不同程度关联的综合征进行多层次的临床、组织病理学和多组学分析

Kleefeld, Felix; Teran Gamboa, Joanna; Pinal-Fernandez, Iago; Preusse, Corinna; Nelke, Christopher; Goebel, Hans-Hilmar; Mensch, Alexander; Mossakowski, Agata; Miah, Mohi-Uddin; Diaz-Manera, Jordi; Torchia, Eleonora; Bortolani, Sara; Hentschel, Andreas; Funke, Andreas; Souvannanorath, Sarah; Authier, François-Jérôme; Malfatti, Edoardo; Gehrig, Johannes; Mammen, Andrew L; Casal-Dominguez, Maria; De Winter, Jonathan; De Ridder, Willem; Ruck, Tobias; Schneider, Udo; Roos, Andreas; Gallardo, Eduard; Tasca, Giorgio; Stenzel, Werner

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

Multimodal tumor-agnostic ctDNA analysis for minimal residual disease detection and risk stratification in ovarian cancer: results from the MITO16a/MaNGO-OV2 trial

多模式肿瘤非特异性ctDNA分析用于卵巢癌微小残留病灶检测和风险分层:MITO16a/MaNGO-OV2试验结果

Paracchini, L; Velle, A; Di Gennaro, P; Mannarino, L; Ancona, L; Lorusso, D; Cecere, S C; Colombo, N; Beltrame, L; Fagotti, A; Tasca, G; Piemontese, M; Arenare, L; Califano, D; Galdiero, F; Zadro, R; Chiodini, P; Perrone, F; Biagioli, E; D'Incalci, M; Romualdi, C; Pignata, S; Marchini, S

RNA cargo profiling of muscle extracellular vesicles identifies candidate biomarkers of disease activity and muscle degeneration in FSHD

通过对肌肉细胞外囊泡的RNA货物进行分析,可以鉴定出FSHD疾病活动和肌肉退化的候选生物标志物。

Ragozzino, Elvira; Bortolani, Sara; Di Pietro, Lorena; Orecchini, Elisa; Papait, Andrea; Nanni, Simona; Torchia, Eleonora; Monforte, Mauro; Ravera, Beatrice; Giacò, Luciano; Mantini, Giulia; Torella, Annalaura; Nigro, Vincenzo; Sibilia, Diego; Kaur, Gurjit; Giacalone, Flavia; Sabino, Andrea; Papacci, Manuela; Augello, Alberto; Lucchetti, Donatella; Sgambato, Alessandro; Tasca, Giorgio; Saccone, Valentina; Lattanzi, Wanda; Parolini, Ornella; Ricci, Enzo

Navigating the Challenges of Metallopharmaceutical Agents: Strategies and Predictive Modeling for Skin Cancer Therapy

应对金属药物治疗的挑战:皮肤癌治疗的策略和预测模型

Azevedo, Fernanda van Petten Vasconcelos; Ruiz, Ana Lúcia Tasca Gois; Rodrigues, Diego Samuel; Nakahata, Douglas Hideki; de Paiva, Raphael Enoque Ferraz; de Araujo, Daniele Ribeiro; de La Via, Ana Carola; Alves, Wendel Andrade; Barreto Requena, Michelle; Kurachi, Cristina; Stringasci, Mirian Denise; Vollet-Filho, José Dirceu; Lustri, Wilton Rogério; Bagnato, Vanderlei Salvador; Abbehausen, Camilla; Corbi, Pedro Paulo; Lima, Carmen Silvia Passos

Tilapia Bone-Derived Hydroxyapatite Particles for Controlled Citronella (Cymbopogon nardus) Release and Antimicrobial Activity

罗非鱼骨来源的羟基磷灰石颗粒用于控制香茅(Cymbopogon nardus)的释放和抗菌活性

Serafim, Janaina Tasca; Modolon, Henrique Borba; Possolli, Natália Morelli; Montedo, Oscar R K; Angioletto, Elídio; Cechinel, Maria Alice Prado; Arcaro, Sabrina

Feasibility and acceptability of COVID-19 self-testing offered through community screening posts in Mozambique: a mixed-methods study

在莫桑比克通过社区筛查点提供新冠病毒自检的可行性和接受度:一项混合方法研究

Issufo, Sheila; Mavume-Mangunyane, Elzier; Valverde, Emilio; Ndima, Sozinho; Chimoyi, Lucy; Penicela, Carlos; Andrade, Ivete; Berthilde, Uwimana; Botão, Carlos; Malate, Phath G; Bruno, Carmen C; Nhangave, Amâncio; Tasca, Bianca G; Madden, Norma; Powers, Rachel; Mulder, Christiaan; Keller, Sara; Peregrino, Remilekun Roland; Spruijt, Ineke

Research on Eating and Adolescent Lifestyle (REAL) 2.0: 15-year follow-up study of eating disorders and weight-related trajectories, mental health and substance use health from early adolescence to early adulthood-a Canadian cohort profile

饮食与青少年生活方式研究 (REAL) 2.0:一项为期 15 年的追踪研究,旨在探讨从青春期早期到成年早期饮食失调和体重相关轨迹、心理健康和物质使用健康状况——一项加拿大队列研究。

Obeid, Nicole; Buchholz, Annick; Bradley, Abigail Hm; Mistry, Niyati; Vaillancourt, Tracy; Colman, Ian; Tasca, Giorgio A; Corace, Kim; Maras, Danijela; Goldfield, Gary