Impaired renal function in patients with spinal muscular atrophy: A longitudinal cohort study [0.03%]
脊髓性肌萎缩症患者肾功能不全的纵向队列研究
Fay-Lynn Asselman,Sabine Ca Meijvis,Renske I Wadman et al.
Fay-Lynn Asselman et al.
BackgroundSpinal muscular atrophy (SMA) is caused by loss-of-function of the survival motor neuron 1 (SMN1) gene and deficiency of the ubiquitously expressed SMN protein. Genetic therapies can partially rescue motor units and improve progno...
Translational behavioral phenotypes in DMSXL mice for CNS manifestations of DM1 [0.03%]
DMSXL小鼠的中枢神经系统DM1表型特征研究
Elisabetta Golini,Aline Huguet-Lachon,Hélène Benyamine et al.
Elisabetta Golini et al.
Background: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder frequently associated with central nervous system (CNS) involvement, especially in congenital and childhood-onset forms. However, behavioral alterati...
Muscle involvement in women carrying pathogenic DMD gene variants: A 6.5-year follow-up study [0.03%]
DMD致病基因变异女性携带者的肌肉受累情况：一项为期6.5年的随访研究
Zhe Lyu,Nanna Scharff Poulsen,Heini Joensen et al.
Zhe Lyu et al.
Background and objective: Women carrying pathogenic DMD gene variants can develop muscle affection, such as muscle weakness and fat replacement. The long-term progression of the muscle involvement is unknown. This study i...
The Rasch-transformed gastrointestinal symptoms rating scale in myotonic dystrophy type 1 (RT-GSRS-DM1) [0.03%]
贝美格氏病1型的rasch转化胃肠道症状评估量表( RT-GSRS-DM1)
Leandre A la Fontaine,Basil Pap van Veen,Tatiana Hamadeh et al.
Leandre A la Fontaine et al.
Background: Myotonic Dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder. Gastrointestinal (GI) symptoms significantly impact quality of life, but remain under-assessed. Currently, no DM1 specific GI question...
Multiparametric assessment of the MyoSuit, a bi-articular exoskeleton designed to assist gait and transfers in adults with neuromuscular diseases [0.03%]
多参数评估MyoSuit的生物力学特性，该 exoskeleton 可以帮助患有神经肌肉疾病的成人在行走和转移时获得助力
Romain Feigean,Cylia Afroun-Roca,Cloé Guerrini et al.
Romain Feigean et al.
Background: Neuromuscular diseases (NMD) cause progressive muscle weakness, significantly impairing functional abilities. Light powered assistive devices hold strong promises for improving mobility and independence in NMD...
Characteristics of early-onset, rapidly progressive scoliosis in spinal muscular atrophy type I treated with disease-modifying therapy -a multicenter retrospective study conducted in Japan [0.03%]
日本多中心回顾性研究：脊髓肌肉萎缩I型疾病修正治疗后早发快速进展的脊柱侧凸的特征
Tomokazu Kimizu,Reiko Arakawa,Mikiko Hasegawa et al.
Tomokazu Kimizu et al.
In the era of disease-modifying therapy (DMT), almost all patients with spinal muscular atrophy (SMA) type I treated after onset, but before 6 months of age, develop early-onset, rapidly progressive scoliosis by 2 years of age, despite impr...
Analysis of infections and malignancy risks among patients with myasthenia gravis compared with matched controls in a US real-world setting [0.03%]
在美国真实世界背景下分析重症肌无力患者与匹配对照组的感染和恶性风险差异性研究
Jana Podhorna,Charlotte Ward,Kushal B Naik et al.
Jana Podhorna et al.
IntroductionMyasthenia gravis (MG) is a rare, debilitating autoimmune disease associated with pathogenic immunoglobulin G autoantibodies directed against components of the neuromuscular junction. The autoimmune nature of the disease and lon...
New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA) [0.03%]
新SMA时代：对不断变化的SMA表型进行广泛的分层功能评估（EVOLVE-SMA）
Meghan Moore Burk,Thomas O Crawford,Kristen Johnson et al.
Meghan Moore Burk et al.
Background: The clinical course of Spinal Muscular Atrophy (SMA) has been transformed by new disease-modifying therapies (DMT). Before DMT, the clinical course of SMA was marked by an inflection point between developmenta...
What is known about muscle weakness, balance impairments and indoor mobility limitations in oculopharyngeal muscular dystrophy? A scoping review [0.03%]
关于眼咽型肌营养不良的肌肉无力、平衡障碍和居家活动受限有哪些认识？系统综述
Nicolas Bélair,Cynthia Gagnon,Elise Duchesne
Nicolas Bélair
Objective: The objective of this scoping review was to map the body of existing literature regarding muscle strength, balance and mobility limitations in oculopharyngeal muscular dystrophy (OPMD). ...
Joost Kools,Lawrence Korngut,Janet Petrillo Ballantyne et al.
Joost Kools et al.
Numerous potential treatments are being developed for facioscapulohumeral muscular dystrophy (FSHD). Project Mercury was initiated to overcome challenges that could slow or prevent effective therapies from widespread availability to patient...