Addressing a Critical Gap: The Need for Pregnancy-Safe Complement Inhibitors in Myasthenia Gravis [0.03%]
填补空白:重症肌无力妊娠期安全补体抑制剂的必要性
Bushra Nasim,Muhammad Hassan Asif,Muhammad Zohair
Bushra Nasim
What Is in the Literature [0.03%]
文献述评
Mark B Bromberg
Mark B Bromberg
This issue of What Is in the Literature focuses on articles over the past year on clinical aspects of motor neuron disease, including amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Disease-modifying treatment for A...
Ishwarya Thiruvuru,P Philo Hazeena,Rithvik Ramesh et al.
Ishwarya Thiruvuru et al.
Mitochondrial fatty acid β-oxidation disorders are autosomal recessive disorders that impair mitochondrial β-oxidation and transport of fatty acids. These disorders have diverse clinical presentations. The neonatal-onset form presents wit...
How Well do We Evaluate Small Fiber Neuropathy?: A Survey of American Academy of Neurology Members [0.03%]
美国神经病学协会成员如何评估小纤维周围神经病变?一项调查研究
Sujata Thawani,Monica Chan,Tasha Ostendorf et al.
Sujata Thawani et al.
Background: Clinical evaluation of distal symmetric polyneuropathy (DSP), which can include small fiber neuropathy (SFN), differs among neurologists, neuromuscular specialists, and internists. The American Academy of Neur...
Myofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India [0.03%]
南印度神经肌肉中心的肌丝肌病的临床遗传谱系分析
Abel Thomas Oommen,Dipti Baskar,Kiran Polavarapu et al.
Abel Thomas Oommen et al.
Objectives: Myofibrillar myopathy (MFM) is a group of hereditary neuromuscular disorders with heterogenous manifestations in skeletal and cardiac muscles. Little is known about phenotype-genotype spectrum of MFM in Indian...
David Lacomis,Michael Isfort
David Lacomis
This update begins with the incidence and features of statin-associated muscle symptoms, which may often be misattributed. Articles on potential muscle mitochondria dysfunction from statins follow, along with recommendations for possibly av...
RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery-Dreifuss Muscular Dystrophy [0.03%]
RNA测序证实了埃默里-德雷夫斯肌肉营养不良氏家族中一种新的FHL1基因缺失的致病性
Chinmayee B Nagaraj,Cuixia Tian,Hani Kushlaf
Chinmayee B Nagaraj
Pathogenic variants in FHL1 are associated with X-linked reducing body myopathy, scapuloperoneal myopathy, myopathy with postural muscle atrophy or Emery-Dreifuss muscular dystrophy type 6. Emery-Dreifuss muscular dystrophy is characterized...
Safety of Onasemnogene Abeparvovec Administration to Type 1 SMA Patients Who Have Received Risdiplam [0.03%]
接受瑞西普姆治疗的1型SMA患者使用Onasemnogene Abeparvovec治疗的安全性研究
Sivakami Chelladurai,Sarah DUrso,Mark Atherton et al.
Sivakami Chelladurai et al.
Three therapies are now available for the treatment of type 1 spinal muscular atrophy: onasemnogene abeparvovec (OA), nusinersen, and risdiplam. We present a retrospective, single-center case series detailing our center's experience with si...
Amyotrophic Lateral Sclerosis Associated With Severe Sensory Neuronopathy: Case Series [0.03%]
与严重的感觉神经病相关的肌萎缩侧索硬化症系列病例报告
Miguel Oliveira Santos,Susana Pinto,Fernando Silveira et al.
Miguel Oliveira Santos et al.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the motor system. However, an association with sensory neuronopathy has been scarcely described. We described 3 unrelated patients (2 males) with sporad...
Quantifying Oculomotor Fatigability for Early Detection of Myasthenia Gravis [0.03%]
量化眼动疲劳实现重症肌无力的早期诊断
Ye Lin Kim,Thanh Tin Nguyen,Seung-Bae Hwang et al.
Ye Lin Kim et al.
Objectives: The aim of this prospective, longitudinal study was to validate video-oculography (VOG) for early detection of myasthenia gravis (MG) in patients with clinical suspicion of MG but lacking confirmatory laborato...