D. Yue

发表

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome

Zhen-an Zhu, D. Beeson, S. Maxwell, 2017, Neuromuscular Disorders.

Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb‐girdle muscular dystrophy type 2A by muscle magnetic resonance imaging

S. Luo, J. Xi, Chongbo Zhao, 2018, Muscle & nerve.

High-risk screening of late-onset Pompe disease: A different early portrait in China

X. Luan, Lan Chen, Junhong Guo, 2022, Frontiers in Neurology.

Clinical features and long exercise test in Chinese patients with Andersen‐Tawil syndrome

Xin Cheng, S. Luo, Chongbo Zhao, 2016, Muscle & nerve.

The correlation of clinical evaluation with life quality and mental status in a Chinese cohort with dysferlinopathy

S. Luo, J. Xi, Chong Sun, 2020, Journal of Clinical Neuroscience.

Early respiratory muscle involvement in LGMDR25: a case report

Chongbo Zhao, Wenhua Zhu, Jiahong Lu, 2022, Neuromuscular Disorders.

GNE myopathy in Chinese population: hotspot and novel mutations

I. Nishino, S. Mitsuhashi, S. Luo, 2018, Journal of Human Genetics.

5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.

Xilu Wang, T. Dou, S. Luo, 2020, Brain : a journal of neurology.

Giant cell polymyositis associated with myasthenia gravis and thymoma

W. Fang, S. Luo, Chongbo Zhao, 2014, Journal of Clinical Neuroscience.

Statin-naïve anti-HMGCR antibody-mediated necrotizing myopathy in China

J. Xi, Jie Lin, Wenhua Zhu, 2018, Journal of Clinical Neuroscience.

Prominent Respiratory Involvement Featured in High-Risk Screening for Late-Onset Pompe Disease in China

X. Luan, Xihua Li, Zhiqiang Wang, 2021 .

GNE myopathy in Chinese population: hotspot and novel mutations

I. Nishino, S. Mitsuhashi, S. Luo, 2018, Journal of Human Genetics.

Clinical characteristics and long term follow-up of Lambert-Eaton myasthenia syndrome in patients with and without small cell lung cancer

J. Xi, Jie Lin, Hui Wu, 2019, Journal of Clinical Neuroscience.

New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure

S. Luo, J. Xi, M. Gao, 2015, Neuromuscular Disorders.

Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation

Zhen-an Zhu, Yin Wang, A. Oldfors, 2015, Neuromuscular Disorders.

Machine learning-based radiomics to differentiate immune-mediated necrotizing myopathy from limb-girdle muscular dystrophy R2 using MRI

S. Luo, Zonghui Liang, Huahua Zhong, 2023, Frontiers in neurology.

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Lijun Du, J. Xi, Zhe Zhao, 2024, Journal of inherited metabolic disease.

Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report

Xilu Wang, J. Xi, Jie Lin, 2023, Neuromuscular Disorders.

Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia

S. Luo, J. Xi, X. Huan, 2024, Muscle & nerve.