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期刊名:Journal of clinical neuromuscular disease

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ISSN:1522-0443

e-ISSN:1537-1611

IF/分区:0.0/

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共收录本刊相关文章索引951
Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
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...
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...
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...
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...
Sivakami Chelladurai,Sarah D&#x;Urso,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...
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...
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...