Xueli Chang

Biallelic FDXR mutations induce ferroptosis in a rare mitochondrial disease with ataxia

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population

The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis

Efgartigimod versus intravenous immunoglobulin in the treatment of patients with impending myasthenic crisis

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China

Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1

The Relationship Between Ribosome-Associated Quality Control and Neurological Disorders

CGG Repeat Expansion in <i>NOTCH2NLC</i> Causing Overlapping Oculopharyngodistal Myopathy and Neuronal Intranuclear Inclusion Disease With Diffusion Weighted Imaging Abnormality in the Cerebellum

GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome

A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family

Muscle ultrasonography in the diagnosis of amyotrophic lateral sclerosis

Identification of two novel compound heterozygous <i>CLCN1</i> mutations associated with autosomal recessive myotonia congenita