Xuebi Xu

<scp><i>ETFDH</i></scp> Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin‐Responsive Multiple Acyl–Coenzyme <scp>A</scp> Dehydrogenation Deficiency

Jingwen Xu, Duoling Li, Jingwei Lv et al. · Annals of Neurology · 2018 · 47 citations

Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations

Xiaolin Yu, Chuanzhu Yan, Kunqian Ji et al. · Chinese Medical Journal · 2018 · 15 citations · Full text

A mitochondrial myopathy-associated tRNASer(UCN) 7453G&gt;A mutation alters tRNA metabolism and mitochondrial function

Yan Lin, Xuebi Xu, Wei Wang et al. · Mitochondrion · 2020 · 14 citations

Mitochondrial Myopathy, Mitochondrial Biogenesis, Mitochondrial Function +9

A novel nonsense variant in MT-CO3 causes MELAS syndrome

Wei Wang, Yuan Sun, Yan Lin et al. · Neuromuscular Disorders · 2021 · 13 citations

Genetic Disorder, Melanoma, Pathology +5

A different pattern of clinical, muscle pathology and brain <scp>MRI</scp> findings in <scp>MELAS</scp> with <scp><i>mt‐ND</i></scp> variants

Wei Wang, Yuying Zhao, Xuebi Xu et al. · Annals of Clinical and Translational Neurology · 2023 · 11 citations · Full text