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

Contaminating plasmid sequences and disrupted vector genomes in the liver following adeno-associated virus gene therapy

腺相关病毒基因治疗后肝脏中存在的污染质粒序列和破坏的载体基因组

Buddle, Sarah; Brown, Li-An K; Morfopoulou, Sofia; Torres Montaguth, Oscar Enrique; Scoto, Mariacristina; Herder, Vanessa; Dhawan, Anil; Brown, Julianne R; Atkinson, Laura; Kopec, Angelika; Davis, Dee; Storey, Nathaniel; Campos, Luis; Sebire, Neil; Macpherson, Hannah; Lee, Jasmaine; Orton, Richard; Baranello, Giovanni; Asamaphan, Patawee; Ilia, Georgios; Karda, Rajvinder; Belfield, Holly; Counsell, John; Waddington, Simon N; Thomson, Emma C; Muntoni, Francesco; Breuer, Judith

Maternal immune activation with high molecular weight poly (I:C) induces selective depressive-like phenotype in adult offspring

母体免疫激活高分子量聚肌苷酸胞苷酸(poly(I:C))可诱导成年后代出现选择性抑郁样表型

Santoni, Michele; Mastio, Andrea; Concas, Luca; Mostallino, Rafaela; Herres, Anna; Sagheddu, Claudia; Castelli, M Paola; Frau, Roberto; Muntoni, Anna Lisa; Pistis, Marco

Poster Session I - A133 REAL WORLD EFFICACY OF GLP-2 AGONISTS IN PEDIATRIC INTESTINAL FAILURE: CANADIAN NATIONAL MULTICENTRE CASE SERIES

海报展示环节 I - A133 GLP-2 受体激动剂在儿童肠衰竭中的真实世界疗效:加拿大国家多中心病例系列研究

Schirru, Enrico; Rossino, Rossano; Jores, Rita D; Corpino, Mara; Muntoni, Sandro; Cucca, Francesco; Congia, Mauro; Greaves, A; Allam, S; Pai, N; Griffin, J; Chowdhury, F; Martinez, A

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

脊髓性肌萎缩症1型患儿的表达性语言和社交沟通能力

Brusa, Chiara; Buchignani, Bianca; Cutri, Chiara; Coratti, Giorgia; Clark, Elaine; Johnson, Emily; Cornell, Nikki; Scoto, Mariacristina; Pane, Marika; Mercuri, Eugenio Maria; Muntoni, Francesco; Baranello, Giovanni

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial.

AAV基因疗法治疗杜氏肌营养不良症:EMBARK 3期随机试验

Mendell Jerry R, Muntoni Francesco, McDonald Craig M, Mercuri Eugenio M, Ciafaloni Emma, Komaki Hirofumi, Leon-Astudillo Carmen, Nascimento Andrés, Proud Crystal, Schara-Schmidt Ulrike, Veerapandiyan Aravindhan, Zaidman Craig M, Guridi Maitea, Murphy Alexander P, Reid Carol, Wandel Christoph, Asher Damon R, Darton Eddie, Mason Stefanie, Potter Rachael A, Singh Teji, Zhang Wenfei, Fontoura Paulo, Elkins Jacob S, Rodino-Klapac Louise R

Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy: An Exploratory Analysis From the EMBARK Randomized Clinical Trial

杜氏肌营养不良症患者的定量肌肉磁共振结果:来自 EMBARK 随机临床试验的探索性分析

Vandenborne, Krista; Walter, Glenn A; Straub, Volker; Willcocks, Rebecca J; Forbes, Sean C; Mercuri, Eugenio M; Muntoni, Francesco; Ding, Kai; Ennamuri, Sravya; Reid, Carol; Murphy, Alexander P; Manfrini, Marianna; Mendell, Jerry R; Elkins, Jacob S; Rodino-Klapac, Louise R

Clinical applications of exon-skipping antisense oligonucleotides in neuromuscular diseases

外显子跳跃反义寡核苷酸在神经肌肉疾病中的临床应用

Torres-Masjoan, Laia; Aguti, Sara; Zhou, Haiyan; Muntoni, Francesco

The role of dystrophin isoforms and interactors in the brain

肌营养不良蛋白亚型及其相互作用蛋白在大脑中的作用

Tetorou, Konstantina; Aghaeipour, Artadokht; Singh, Simran; Morgan, Jennifer E; Muntoni, Francesco

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

对由复发性变异 COL6A1 c.930+189C>T 引起的严重 COL6 相关营养不良症进行表征

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann