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

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period

英国先天性肌病和肌营养不良症患者10年间的遗传特征和诊断结果

Cicala, Gianpaolo; Mccauley, Jo; Phadke, Rahul; Mueller, Juliane; Robb, Stephanie Ann; Manzur, Adnan Y; Munot, Pinki; Baranello, Giovanni; Scoto, Mariacristina; Tedesco, Francesco Saverio; Mein, Rachael A; Walsh, Cheryl; Muntoni, Francesco; Sarkozy, Anna

Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI

Myo-Guide:一款基于机器学习的神经肌肉疾病磁共振成像诊断网络应用程序

Verdu-Diaz, Jose; Bolano-Díaz, Carla; Gonzalez-Chamorro, Alejandro; Fitzsimmons, Sam; Warman-Chardon, Jodi; Kocak, Goknur Selen; Mucida-Alvim, Debora; Smith, Ian C; Vissing, John; Poulsen, Nanna Scharff; Luo, Sushan; Domínguez-González, Cristina; Bermejo-Guerrero, Laura; Gomez-Andres, David; Sotoca, Javier; Pichiecchio, Anna; Nicolosi, Silvia; Monforte, Mauro; Brogna, Claudia; Mercuri, Eugenio; Bevilacqua, Jorge Alfredo; Díaz-Jara, Jorge; Pizarro-Galleguillos, Benjamín; Krkoska, Peter; Alonso-Pérez, Jorge; Olivé, Montse; Niks, Erik H; Kan, Hermien E; Lilleker, James; Roberts, Mark; Buchignani, Bianca; Shin, Jinhong; Esselin, Florence; Le Bars, Emmanuelle; Childs, Anne Marie; Malfatti, Edoardo; Sarkozy, Anna; Perry, Luke; Sudhakar, Sniya; Zanoteli, Edmar; Di Pace, Filipe Tupinamba; Matthews, Emma; Attarian, Shahram; Bendahan, David; Garibaldi, Matteo; Fionda, Laura; Alonso-Jiménez, Alicia; Carlier, Robert; Okhovat, Ali Asghar; Nafissi, Shahriar; Nalini, Atchayaram; Vengalil, Seena; Hollingsworth, Kieren; Marini-Bettolo, Chiara; Straub, Volker; Tasca, Giorgio; Bacardit, Jaume; Díaz-Manera, Jordi

Observational study of changes to glucocorticosteroid prescribing patterns in duchenne muscular dystrophy in the UK over the last decade

过去十年英国杜氏肌营养不良症糖皮质激素处方模式变化的观察性研究

Landon, Gregory; Stimpson, Georgia; Guglieri, Michela; Sarkozy, Anna; Manzur, Adnan Y; Muntoni, Francesco; Baranello, Giovanni

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

利用高保真长读长基因组测序揭示未确诊的罕见病病例

Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yépez, Vicente A; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schüle, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schöls, Ludger; Claeys, Kristl G; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Müller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmüller, Hanns; Spinazzi, Marco; Savarese, Marco; Matalonga, Leslie; Laurie, Steven; Brunner, Han G; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E L M; Gilissen, Christian; Hoischen, Alexander

Joint Modelling of Growth and Motor Function Centiles in Corticosteroids Treated Boys With Duchenne Muscular Dystrophy

皮质类固醇治疗的杜氏肌营养不良症男孩的生长和运动功能百分位数的联合建模

Stimpson, Georgia; Ridout, Deborah; Wolfe, Amy; Milev, Evelin; O'Reilly, Emer; Manzur, Adnan; Sarkozy, Anna; Muntoni, Francesco; Baranello, Giovanni

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations

常染色体隐性遗传VWA1相关疾病:表型变异和基因突变的综合分析

Nagy, Sara; Pagnamenta, Alistair T; Cali, Elisa; Braakman, Hilde M H; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D; Rossor, Alexander M; Uhrova Meszarosova, Anna; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M; Lamont, Phillipa J; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M; Kvalsund, Michelle; Kapapa, Musambo M; Wa Somwe, Somwe; Bearden, David R; Çakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M; Houlden, Henry; Maroofian, Reza

Relationship between growth and ambulation loss in Duchenne muscular dystrophy boys on steroids

杜氏肌营养不良症男孩服用类固醇后生长发育与行走能力丧失的关系

Stimpson, Georgia; Ridout, Deborah; Sarkozy, Anna; Manzur, Adnan; Muntoni, Francesco; Baranello, Giovanni

Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys

量化杜氏肌营养不良症运动功能变异性:接受糖皮质激素治疗的男孩在 NorthStar 步行评估、10 米步行/跑步速度和起立速度方面的英国百分位数

Stimpson, Georgia; Ridout, Deborah; Wolfe, Amy; Milev, Evelin; O'Reilly, Emer; Manzur, Adnan; Sarkozy, Anna; Muntoni, Francesco; Cole, Tim J; Baranello, Giovanni

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G