Karen Suetterlin,Roope Männikkö,Enrico Flossmann et al.
Karen Suetterlin et al.
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic ...
Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience [0.03%]
努西нер森治疗晚发性脊髓性肌萎缩症患者的现实世界数据：单中心经验
Rodrigo H Mendonça,Graziela J Polido,Ciro Matsui et al.
Rodrigo H Mendonça et al.
BackgroundSpinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and motor disability.ObjectiveThis study aims to report the evaluation of nusinersen, an antisense oligonucleotide, on motor funct...
Observational Study
Journal of neuromuscular diseases. 2021;8(1):101-108. DOI:10.3233/JND-200551 2021
Beyond the Traditional Clinical Trials for Amyotrophic Lateral Sclerosis and The Future Impact of Gene Therapy [0.03%]
肌萎缩性侧索硬化传统临床试验之外及基因治疗的未来影响
Marisa Cappella,Pierre-François Pradat,Giorgia Querin et al.
Marisa Cappella et al.
Amyotrophic lateral sclerosis (ALS) is a devastating and incurable motor neuron (MN) disorder affecting both upper and lower MNs. Despite impressive advances in the understanding of the disease's pathological mechanism, classical pharmacolo...
Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy [0.03%]
辛伐他汀治疗不改善杜氏肌营养不良小鼠模型的肌肉病理生理状态
Ingrid E C Verhaart,Ornella Cappellari,Christa L Tanganyika-de Winter et al.
Ingrid E C Verhaart et al.
Duchenne muscular dystrophy is an X-linked, recessive muscular dystrophy in which the absence of the dystrophin protein leads to fibrosis, inflammation and oxidative stress, resulting in loss of muscle tissue. Drug repurposing, i.e. using d...
Photovoice as a Participatory Research Tool in Amyotrophic Lateral Sclerosis [0.03%]
在肌萎缩侧索硬化症中作为参与性研究工具的摄影声音方法
Adrianna Gunton,Gregory Hansen,Kerri Lynn Schellenberg
Adrianna Gunton
Background: Photovoice is a qualitative research tool increasingly utilized in the healthcare field to understand the illness experience from the patient and caregiver perspective. This is the first study to evaluate phot...
Josef Finsterer,Wolfgang N Löscher,Julia Wanschitz et al.
Josef Finsterer et al.
Objectives: Generally, neuropathies of peripheral nerves are a frequent condition (prevalence 2-3%) and most frequently due to alcoholism, diabetes, renal insufficiency, malignancy, toxins, or drugs. However, the vast maj...
Neuroanatomical Models of Muscle Strength and Relationship to Ambulatory Function in Spinal Muscular Atrophy [0.03%]
神经解剖模型与脊髓肌萎缩的肌肉力量及步行功能的关系
Rafael Rodriguez-Torres,Julia Fabiano,Ashley Goodwin et al.
Rafael Rodriguez-Torres et al.
Background: Individuals with spinal muscular atrophy (SMA) III walk independently, but experience muscle weakness, gait impairments, and fatigue. Although SMA affects proximal more than distal muscles, the characteristic ...
Correlation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD [0.03%]
健康对照组和IBM、FSHD及OPMD患者的肌肉活检中的定量MRI和肌肉病理学之间的相关性
Saskia Lassche,Benno Küsters,Arend Heerschap et al.
Saskia Lassche et al.
Background: Muscle MRI is increasingly used as a diagnostic and research tool in muscle disorders. However, the correlation between MRI abnormalities and histopathological severity is largely unknown. ...
Decision-Making And Selection Bias in Four Observational Studies on Duchenne and Becker Muscular Dystrophy [0.03%]
关于杜氏和贝克型肌营养不良的四个观察研究中的决策与选择偏差
Karin J Naarding,Nathalie Doorenweerd,Zaïda Koeks et al.
Karin J Naarding et al.
Background: Natural history data are essential for trial design in Duchenne (DMD) and Becker muscular dystrophy (BMD), but recruitment for observational studies can be challenging. ...
The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry [0.03%]
加拿大神经肌肉疾病登记处2010-2019：十年通过全国性的全范围神经肌肉疾病登记推动临床研究
V Hodgkinson,J Lounsberry,S M&#x;Dahoma et al.
V Hodgkinson et al.
We report the recruitment activities and outcomes of a multi-disease neuromuscular patient registry in Canada. The Canadian Neuromuscular Disease Registry (CNDR) registers individuals across Canada with a confirmed diagnosis of a neuromuscu...