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

Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy

杜氏肌营养不良症男孩的身高、体重和体质指数变化轨迹及其与功能结果评估的相关性

Schiava, Marianela; Dang, Utkarsh J; Wood, Claire; Wong, Sze Choong; Ward, Leanne M; Lofra, Robert Muni; Mayhew, Anna; Martens, William B; Gregory, Stephanie; Griggs, Robert C; Guglieri, Michela

Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines

对来自同一中心的大型贝克尔肌营养不良症患者队列进行特征分析,以指导标准化护理指南的制定。

Riguzzi, Pietro; Borland, Holly; James, Meredith K; Bourke, John; Bettolo, Chiara Marini; Lofra, Robert Muni; Diaz-Manera, Jordi; Tasca, Giorgio; Schiava, Marianela; ElSeed, Maha; Harris, Elizabeth; Grover, Emma; Geagan, Chloe; Diaz, Carla Bolano; Haagsma, Ariele Barreto; Salman, Doaa; Reeves, Tara; Kocak, Goknur S; Robinson, Emma; Waldock, Peter; McCallum, Michelle; Michell-Sodhi, Jassi; Moat, Dionne; Wong, Karen; Topf, Ana; Pegoraro, Elena; Bello, Luca; Straub, Volker; Guglieri, Michela

Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids

一项针对接受糖皮质激素治疗的杜氏肌营养不良症成年患者的大型队列研究,探讨了他们的功能能力、呼吸功能和心脏功能。

Schiava, Marianela; Lofra, Robert Muni; Bourke, John P; Díaz-Manera, Jordi; James, Meredith K; Elseed, Maha A; Malinova, Monika; Michel-Sodhi, Jassi; Moat, Dionne; Ghimenton, Elisabetta; Mccallum, Michelle; Díaz, Carla Florencia Bolaño; Mayhew, Anna; Wong, Karen; Richardson, Mark; Tasca, Giorgio; Eglon, Gail; Eagle, Michelle; Turner, Cathy; Heslop, Emma; Straub, Volker; Bettolo, Chiara Marini; Guglieri, Michela

An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy

综合转录组学和基因组学方法检测杜氏肌营养不良症女性的 X/常染色体易位

Alba Segarra-Casas, Vicente A Yépez, German Demidov, Steven Laurie, Anna Esteve-Codina, Julien Gagneur, Yolande Parkhurst, Robert Muni-Lofra, Elizabeth Harris, Chiara Marini-Bettolo, Volker Straub, Ana Töpf

Development of an International SMA Bulbar Assessment for Inter-professional Administration

开发用于跨专业管理的国际脊髓性肌萎缩症延髓评估方法

Dunaway Young, Sally; McGrattan, Katlyn; Johnson, Emily; van der Heul, Marise; Duong, Tina; Bakke, Merete; Werlauff, Ulla; Pasternak, Amy; Cattaneo, Camilla; Hoffman, Katie; Fanelli, Lavinia; Breaks, Anne; Allison, Kristen; Baranello, Giovanni; Finkel, Richard; Coratti, Giorgia; Lofra, Robert Muni

Assessment of disease progression in dysferlinopathy: A 1-year cohort study

肌营养不良症疾病进展评估:一项为期1年的队列研究

Moore, Ursula; Jacobs, Marni; James, Meredith K; Mayhew, Anna G; Fernandez-Torron, Roberto; Feng, Jia; Cnaan, Avital; Eagle, Michelle; Bettinson, Karen; Rufibach, Laura E; Lofra, Robert Muni; Blamire, Andrew M; Carlier, Pierre G; Mittal, Plavi; Lowes, Linda Pax; Alfano, Lindsay; Rose, Kristy; Duong, Tina; Berry, Katherine M; Montiel-Morillo, Elena; Pedrosa-Hernández, Irene; Holsten, Scott; Sanjak, Mohammed; Ashida, Ai; Sakamoto, Chikako; Tateishi, Takayuki; Yajima, Hiroyuki; Canal, Aurélie; Ollivier, Gwenn; Decostre, Valerie; Mendez, Juan Bosco; Sánchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Shierbecker, Jeanine; Florence, Julaine M; Vandevelde, Bruno; DeWolf, Brittney; Hutchence, Meghan; Gee, Richard; Prügel, Juliana; Maron, Elke; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Díaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

HFMSE在脊髓性肌萎缩症中的内容效度和临床意义

Pera, Maria C; Coratti, Giorgia; Forcina, Nicola; Mazzone, Elena S; Scoto, Mariacristina; Montes, Jacqueline; Pasternak, Amy; Mayhew, Anna; Messina, Sonia; Sframeli, Maria; Main, Marion; Lofra, Robert Muni; Duong, Tina; Ramsey, Danielle; Dunaway, Sally; Salazar, Rachel; Fanelli, Lavinia; Civitello, Matthew; de Sanctis, Roberto; Antonaci, Laura; Lapenta, Leonardo; Lucibello, Simona; Pane, Marika; Day, John; Darras, Basil T; De Vivo, Darryl C; Muntoni, Francesco; Finkel, Richard; Mercuri, Eugenio

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

SYT2 基因突变导致可治疗的神经肌肉综合征的电生理特征

Whittaker, Roger G; Herrmann, David N; Bansagi, Boglarka; Hasan, Bashar Awwad Shiekh; Lofra, Robert Muni; Logigian, Eric L; Sowden, Janet E; Almodovar, Jorge L; Littleton, J Troy; Zuchner, Stephan; Horvath, Rita; Lochmüller, Hanns