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

A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy

β-1,3-N-乙酰氨基葡萄糖转移酶4基因的纯合变异会导致进行性脑萎缩和肌营养不良。

Vissing, John; Töpf, Ana; Straub, Volker; Krag, Thomas

SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

SNUPN相关肌营养不良症:新的表型、病理和功能蛋白见解

Muelas, Nuria; Iruzubieta, Pablo; Damborenea, Alberto; Pérez-Fernández, Laura; Azorín, Inmaculada; Jiménez García, Juan Carlos; Töpf, Ana; Martí, Pilar; Fores-Toribio, Lorena; Manterola, María; Blanco-Mañez, Rosana; Pikatza-Menoio, Oihane; Alonso-Martín, Sonia; Straub, Volker; Cortajarena, Aitziber L; López de Munain, Adolfo; De Sancho, David; Blázquez, Lorea; Vilchez, Juan J

Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders

评估大量成年神经肌肉疾病患者的生活质量与功能状态的关系

Wong, Karen S W; Sen, Anando; Michell-Sodhi, Jassi; Moat, Dionne; McCallum, Michelle; Richardson, Mark; Harris, Elizabeth; Mayhew, Anna G; Guglieri, Michela; Grover, Emma; Diaz-Manera, Jordi; Robinson, Emma; Elseed, Maha; Mason, Joseph; Geagan, Chloe; James, Meredith K; Straub, Volker; Marini-Bettolo, Chiara; Muni-Lofra, Robert

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

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

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

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

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

欧洲BAG3相关神经肌肉疾病患者的疾病谱和长期预后

Fernández-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Morís, Germán; Gallardo, Eduard; Olivé, Montse; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G; Dohrn, Maike F; Dembele, Mohamed; Fer, Frédéric; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Domínguez-González, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya

Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using (23)Na-MRI in Dysferlinopathy and Healthy Controls

利用 (23)Na-MRI 对肌营养不良症患者和健康对照组运动后肌肉钠动力学进行快速定量评估

Neal, Mary A; Bolano-Diaz, Carla F; Richardson, Mark; Michell-Sodhi, Jassi; Muni-Lofra, Robert; James, Meredith K; Hollingsworth, Kieren G; Hilsden, Heather; Wilson, Ian; Blamire, Andrew M; Straub, Volker; Thelwall, Peter E; Diaz-Manera, Jordi

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

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2

肌营养不良蛋白缺乏型肢带型肌营养不良症R2型临床结局研究中高密度脂蛋白相关胆固醇异常

White, Zoe; Rufibach, Laura; Dressman, Heather Gordish; Hilsden, Heather; Cox, Dan; Spuler, Simone; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R; Straub, Volker; Bernatchez, Pascal