Aping Sun
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View article: The positive impact of introducing public engagement as a self-directed learning strategy in undergraduate nervous system education
The positive impact of introducing public engagement as a self-directed learning strategy in undergraduate nervous system education Open
Undergraduate medical education in China has shifted from educator-centered learning to self-directed learning (SDL) over the past few decades. Careful design of public engagement activities can enable SDL and empower medical students to p…
View article: [Diagnostic value of F wave changes in patients with Charcot-Marie-Tooth1A and chronic inflammatory demyelinating polyneuropathy].
[Diagnostic value of F wave changes in patients with Charcot-Marie-Tooth1A and chronic inflammatory demyelinating polyneuropathy]. Open
The prolonged latency of F wave in patients with CMT1A reflects the homogenous changes in both proximal and distal peripheral nerves, which can be used as a method to differentiate the CIDP patients characterized by focal demyelinating pat…
View article: [Genetic distribution in Chinese patients with hereditary peripheral neuropathy].
[Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. Open
CMT and HMN are the most common diseases of HPN. There is a large overlap between HMN and motor-CMT2 pathogenic genes, and some HMN pathogenic genes overlap with amyotrophic lateral sclerosis, hereditary spastic hemiplegia and spinal muscu…
View article: The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort
The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort Open
Introduction: Charcot–Marie–Tooth disease type 2A (CMT2A) is a group of clinically and genetically heterogeneous disorders, which is mostly caused by mutations of the mitofusin2 (MFN2) gene. As the genotype–phenotype characteristics of CMT…
View article: A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia
A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia Open
To the Editor: A 39-year-old man presented with progressive limb atrophy and weakness. The patient had generalized muscular hypotonia at birth; he could not run well in elementary school. Neurologic examination revealed atrophy of the faci…
View article: Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations Open
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited neuropathies. The GJB1 gene is the pathogenic gene of CMTX1. In this study, we screened a cohort of 465 unrelated Chinese CMT patients from …
View article: [Diagnostic value of tremor analysis in identifying the early Parkinson's syndrome].
[Diagnostic value of tremor analysis in identifying the early Parkinson's syndrome]. Open
Tremor analysis is sensitive and a superior way in identifying early Parkinson's syndrome patients with tremor dominant manifestation. The combination of non-motor symptoms and transcranial sonography are also needed at diagnosis.
View article: A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family
A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family Open
To the Editor: Distal myopathy is a heterogenetic disorder characterized by early distal lower limb involvement, which has been linked to 18 disease-causing genes. The gene responsible for Laing distal myopathy (LDM, also called distal myo…