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

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

Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis

肌营养不良蛋白病(LGMDR2)进展建模:纵向脂肪分数分析

Bolano-Diaz, Carla Florencia; Reyngoudt, Harmen; Wilson, Ian J; James, Meredith K; Smith, Fiona Elizabeth; Caldas de Almeida Araujo, Ericky; Gordish-Dressman, Heather; Hilsden, Heather; Rufibach, Laura E; Wallace, Dorothy; Ward, Louise; Stramare, Roberto; Rampado, Alessandro; Smith, Mark; Boisserie, Jean-Marc; Le Louer, Julien; Foster, Sheryl; Peduto, Anthony; Sato, Noriko; Tamaru, Takeshi; Sawyer, Anne Marie; Day, John W; Jones, Kristi J; Walter, Maggie Christine; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Mendell, Jerry R; Pegoraro, Elena; Straub, Volker; Blamire, Andrew M; Carlier, Pierre; Diaz-Manera, Jordi

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

专家组筛选出与肢带型肌营养不良症相关的31个基因

Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R; Beckmann, Jacques S; Bronicki, Lucas; Cooper, Sandra T; Ganesh, Vijay S; Kang, Peter B; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

专家组筛选出与肢带型肌营养不良症相关的31个基因

Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R; Beckmann, Jacques S; Bronicki, Lucas; Cooper, Sandra T; Ganesh, Vijay S; Kang, Peter B; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C

Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy

一项为期三年的定量磁共振成像和磷磁共振波谱研究,旨在探讨肌营养不良症患者下肢肌肉的变化。

Reyngoudt, Harmen; Smith, Fiona E; Caldas de Almeida Araújo, Ericky; Wilson, Ian; Fernández-Torrón, Roberto; James, Meredith K; Moore, Ursula R; Díaz-Manera, Jordi; Marty, Benjamin; Azzabou, Noura; Gordish, Heather; Rufibach, Laura; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Boisserie, Jean-Marc; Le Louër, Julien; Hilsden, Heather; Sutherland, Helen; Canal, Aurélie; Hogrel, Jean-Yves; Jacobs, Marni; Stojkovic, Tanya; Bushby, Kate; Mayhew, Anna; Straub, Volker; Carlier, Pierre G; Blamire, Andrew M

Water T2 could predict functional decline in patients with dysferlinopathy

水 T2 值可能预测 dysferlinopathy 患者的功能衰退。

Moore, Ursula; Caldas de Almeida Araújo, Ericky; Reyngoudt, Harmen; Gordish-Dressman, Heather; Smith, Fiona E; Wilson, Ian; James, Meredith; Mayhew, Anna; Rufibach, Laura; 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; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Blamire, Andrew M; Straub, Volker; Carlier, Pierre G; Diaz-Manera, Jordi

Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study

肌营养不良蛋白病患者的心脏和肺部表现:一项为期3年的纵向研究

Moore, Ursula; Fernandez-Torron, Roberto; Jacobs, Marni; Gordish-Dressman, Heather; Diaz-Manera, Jordi; James, Meredith K; Mayhew, Anna G; Harris, Elizabeth; Guglieri, Michela; Rufibach, Laura E; Feng, Jia; Blamire, Andrew M; Carlier, Pierre G; 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; Pegoraro, Elena; Lowes, Linda Pax; Mendell, Jerry R; Bushby, Kate; Bourke, John; Straub, Volker

Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach

评估患者报告结局指标与肌营养不良症功能状态的关系:一种Rasch分析方法

Mayhew, Anna G; James, Meredith K; Moore, Ursula; Sutherland, Helen; Jacobs, Marni; Feng, Jia; Lowes, Linda Pax; Alfano, Lindsay N; Muni Lofra, Robert; Rufibach, Laura E; Rose, Kristy; Duong, Tina; Bello, Luca; Pedrosa-Hernández, Irene; Holsten, Scott; Sakamoto, Chikako; Canal, Aurélie; Sánchez-Aguilera Práxedes, Nieves; Thiele, Simone; Siener, Catherine; Vandevelde, Bruno; DeWolf, Brittney; Maron, Elke; Gordish-Dressman, Heather; Hilsden, Heather; Guglieri, Michela; Hogrel, Jean-Yves; Blamire, Andrew M; Carlier, Pierre G; 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; Díaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R; Straub, Volker

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

青少年时期剧烈运动与患有肌营养不良蛋白病的成年人T1加权磁共振成像上肌肉高信号强度增加相关。

Moore, Ursula; Jacobs, Marni; Fernandez-Torron, Roberto; LLauger Rossello, Jaume; Smith, Fiona E; James, Meredith; Mayhew, Anna; Rufibach, Laura; Carlier, Pierre G; Blamire, Andrew M; 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; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker; Diaz-Manera, Jordi

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