Holly Borland,Jordi Diaz-Manera
Holly Borland
The sarcoglycanopathies are a severe form of limb girdle muscular dystrophy caused by mutations in the sarcoglycan genes SGCA, SGCB, SGCG, and SGCD, leading to reduced or absent expression of the alpha-, beta-, gamma-, and delta-sarcoglycan...
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy [0.03%]
杜氏肌营养不良患者定量肌肉MRI的自动化分析及其可靠性
Sara Nagy,Olga Kubassova,Patricia Hafner et al.
Sara Nagy et al.
Background: Quantitative muscle MRI is one of the most promising biomarkers to detect subclinical disease progression in patients with neuromuscular disorders, including Duchenne muscular dystrophy (DMD). However, its cli...
Patient-reported assessment of bulbar function in spinal muscular atrophy (SMA): Validation of a self-report scale [0.03%]
脊髓肌肉萎缩症（SMA）患者报告的球形功能评估：自我报告量表的有效性验证
Maureen A Lefton-Greif,Lisa Belter,Jill Jarecki et al.
Maureen A Lefton-Greif et al.
Background: Bulbar dysfunction is a well-recognized burden experienced by individuals with spinal muscular atrophy (SMA). Metrics that capture the impact of these problems are lacking. Objectives: To develop and validate an SMA-Bulbar Scale...
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping [0.03%]
通过外显子跳跃治疗杜氏肌营养不良的基因组编辑临床前研发
Made Harumi Padmaswari,Shilpi Agrawal,Christopher E Nelson
Made Harumi Padmaswari
Duchenne muscular dystrophy (DMD) is caused by loss-of-function mutations to the gene encoding dystrophin. Restoring the reading frame of dystrophin by removing internal out-of-frame exons may address symptoms of DMD. Therefore, the princip...
Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy [0.03%]
杜氏肌营养不良患者步行能力及下降速率的年龄分布图
Anna G Mayhew,James Signorovitch,Michaela Johnson et al.
Anna G Mayhew et al.
In Duchenne muscular dystrophy (DMD), age at symptom onset and rate of decline thereafter vary considerably. This study contrasted disease progression over time using the North Star Ambulatory Assessment (NSAA) in an overall sample of patie...
Initiating non-invasive ventilation in patients with Amyotrophic Lateral Sclerosis in The Netherlands: A centralised approach to respiratory care [0.03%]
荷兰的肌萎缩性侧索硬化症患者的无创通气治疗：呼吸系统治疗的集中化方法
Rineke Jh Jaspers Focks,Jochem Helleman,Leonard H van den Berg et al.
Rineke Jh Jaspers Focks et al.
Background: In the Netherlands a centralised approach to respiratory care for patients with Amyotrophic Lateral Sclerosis is used based on national guidelines. Patients with Amyotrophic Lateral Sclerosis are referred to o...
A historical perspective on the development of antisense oligonucleotide treatments for Duchenne muscular dystrophy and spinal muscular atrophy [0.03%]
从历史角度审视反义寡核苷酸治疗杜氏肌营养不良和脊髓性肌萎缩的发展过程
Annemieke Aartsma-Rus,Shin&#x;ichi Takeda
Annemieke Aartsma-Rus
Splice modulating antisense oligonucleotides (ASOs) have been approved for the treatment of spinal muscular atrophy (nusinersen) and Duchenne muscular dystrophy (eteplirsen) since 2016. Nusinersen obtained full approval based on convincing ...
The participants' perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands - A qualitative study [0.03%]
从荷兰的参与者视角看面肩肱型肌营养不良试验-一项定性研究
Lizan Stinissen,Joost Kools,Sietse Bouma et al.
Lizan Stinissen et al.
Background: Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disease without an available cure. The first trials with potentially disease-modifying therapies have started, including a phase ll open-lab...
Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature [0.03%]
17种神经肌肉疾病患病率和发病率的最新文献回顾
Johanna Cw Deenen,André Lm Verbeek,Jan Jgm Verschuuren et al.
Johanna Cw Deenen et al.
Background: Epidemiological frequency measures serve as reference point for patients, clinicians, researchers, and policymakers. Previously, we published a comprehensive review of the literature with prevalence and incide...