Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI [0.03%]
Ryanodine受体1相关型肌病的定量磁共振T1加权成像评估脂肪浸润分布和严重程度
Tokunbor A Lawal,Aneesh Patankar,Joshua J Todd et al.
Tokunbor A Lawal et al.
Background: Ryanodine receptor 1-related myopathy (RYR1-RM) can present with a selective pattern and gradient of intramuscular fatty infiltration (IMFI) on magnetic resonance imaging (MRI). ...
14-Year Changes in Plasma Neurofilament Levels Among Men: A Pilot Study [0.03%]
男性血浆神经丝水平的纵向变化-一项试点研究
Pamela M Rist,Varant Kupelian,Marco Petrillo et al.
Pamela M Rist et al.
Little is known about the feasibility of using long-term stored blood samples to measure neurofilament levels and about long-term changes in neurofilament levels among healthy individuals. We performed a pilot study among 26 adult men in pr...
Erratum to "Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?" [0.03%]
对“通过新生儿筛查诊断出有四个SMN2拷贝的婴儿脊髓性肌萎缩症患儿的机会或负担？”一文的勘误
Wolfgang Müller-Felber,Katharina Vill,Oliver Schwartz et al.
Wolfgang Müller-Felber et al.
Published Erratum
Journal of neuromuscular diseases. 2021;8(2):335-336. DOI:10.3233/JND-219002 2021
Leo H Wang,Rabi Tawil
Leo H Wang
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies. Over the last decade, a consensus was reached regarding the underlying cause of FSHD allowing-for the first time-a targeted approach to treatment....
Fracture Risk in Patients with Myasthenia Gravis: A Population-Based Cohort Study [0.03%]
重症肌无力患者骨折风险：基于人群的队列研究
Charles Kassardjian,Jessica Widdifield,J Michael Paterson et al.
Charles Kassardjian et al.
Background: Prednisone is a common treatment for myasthenia gravis (MG), and osteoporosis is a known potential risk of chronic prednisone therapy. Objecti...
Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls [0.03%]
评估反义寡核苷酸药物-eteplirsen治疗杜氏肌营养不良长期随访效果的对比研究
Jerry R Mendell,Navid Khan,Nanshi Sha et al.
Jerry R Mendell et al.
Background: Duchenne muscular dystrophy (DMD) is a rare, X-linked, fatal, degenerative neuromuscular disease caused by DMD gene mutations. A relationship between exon skipping and dystrophin production in exon 51-amenable...
Report on the 5th Ottawa International Conference on Neuromuscular Disease & Biology -October 17-19, 2019, Ottawa, Canada [0.03%]
第五届多伦多国际神经肌肉疾病及生物学大会报告摘要（2019年10月17-19日，加拿大渥太华）
Jodi Warman-Chardon,Bernard J Jasmin,Rashmi Kothary et al.
Jodi Warman-Chardon et al.
Jitter Remains Stable Throughout a Single Fiber EMG Session in Healthy and Myasthenic Muscles [0.03%]
健康和重症肌无力肌肉在整个单纤维针极肌电图检查过程中震颤保持稳定
Evangelos Anagnostou,Panagiota Dimopoulou,Vasiliki Zouvelou et al.
Evangelos Anagnostou et al.
Fatigability is the hallmark of myasthenia gravis (MG). It is not clear, however, whether there is an analogous increase in jitter during the course of a single fiber electromyography (SFEMG) session. The individual jitter values of all pot...
Therapies for Genetic Forms of Parkinson's Disease: Systematic Literature Review [0.03%]
遗传性帕金森病治疗的系统文献回顾
Laura Over,Norbert Brüggemann,Katja Lohmann
Laura Over
Parkinson's disease (PD) is a disabling neurological condition characterized by the loss of dopaminergic neurons. Currently, the treatment for PD is symptomatic and compensates for the endogenous loss of dopamine production. In cases where ...
Cerebrospinal Fluid Protein Level and Mechanical Ventilation in Guillain-Barré Syndrome patients [0.03%]
Guillain-Barre 综合征患者脑脊液蛋白水平与机械通气的关系
Long Davalos,Dustin Nowacek,Bakri Elsheikh et al.
Long Davalos et al.
The prognostic value of cerebrospinal fluid (CSF) protein in Guillain Barré Syndrome (GBS) is unclear. We aimed to explore the potential association between CSF protein level and mechanical ventilation in GBS. We undertook a retrospective ...