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D. Yue · SciRah

Researcher profile · Semantic Scholar

D. Yue

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D. Yue — researcher profile on SciRah

h-index: 10
Works: 47
Citations: 342

Most-cited papers

5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.
J. Xi, Xilu Wang, D. Yue, T. Dou +19 more
2020Brain : a journal of neurology62 citations Open access
Semantic Scholar
Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation.
Su-Shan Luo, Wen-Hua Zhu, D. Yue, Jie Lin +7 more
2015Neuromuscular Disorders34 citations
Semantic Scholar
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
Su-Shan Luo, S. Cai, S. Maxwell, D. Yue +8 more
2017Neuromuscular Disorders29 citations
Semantic Scholar
Statin-naïve anti-HMGCR antibody-mediated necrotizing myopathy in China.
Yu-Qiong Jiao, S. Cai, Jie Lin, Wen-Hua Zhu +8 more
2018Journal of clinical neuroscience27 citations
Semantic Scholar
GNE myopathy in Chinese population: hotspot and novel mutations
Yang Chen, J. Xi, Wen-Hua Zhu, Jie Lin +9 more
2018Journal of Human Genetics23 citations
Semantic Scholar
Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb‐girdle muscular dystrophy type 2A by muscle magnetic resonance imaging
Xuelin Feng, Su-Shan Luo, Jing Li, D. Yue +7 more
2018Muscle and Nerve22 citations
Semantic Scholar
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.
D. Yue, Ming-Shi Gao, Wen-Hua Zhu, Su-Shan Luo +8 more
2015Neuromuscular Disorders20 citations
Semantic Scholar
Clinical features and long exercise test in Chinese patients with Andersen‐Tawil syndrome
Jie Song, Su-Shan Luo, Xin Cheng, D. Yue +6 more
2016Muscle and Nerve17 citations
Semantic Scholar
Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy
X. Gu, Jia-Xi Yu, Ke-Xin Jiao, Jian-Wen Deng +14 more
2023Journal of Medical Genetics13 citations
Semantic Scholar
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy.
S. Cai, Ming-Shi Gao, J. Xi, Zhuo Liu +9 more
2019Neuromuscular Disorders11 citations
Semantic Scholar
Clinical characteristics and long term follow-up of Lambert-Eaton myasthenia syndrome in patients with and without small cell lung cancer.
Yiqi Liu, J. Xi, Lei Zhou, Hui Wu +6 more
2019Journal of clinical neuroscience10 citations
Semantic Scholar
Giant cell polymyositis associated with myasthenia gravis and thymoma.
Jie Lin, Jun Lu, Chongbo Zhao, K. Qiao +6 more
2014Journal of clinical neuroscience10 citations
Semantic Scholar
Machine learning-based radiomics to differentiate immune-mediated necrotizing myopathy from limb-girdle muscular dystrophy R2 using MRI
Ping Wei, Huahua Zhong, Qian Xie, Jin Li +4 more
2023Frontiers in Neurology9 citations Open access
Semantic Scholar
High-risk screening of late-onset Pompe disease: A different early portrait in China
Ke-Xin Jiao, Jihong Dong, Su-Shan Luo, Li-Qiang Yu +27 more
2022Frontiers in Neurology8 citations Open access
Semantic Scholar
Early respiratory muscle involvement in LGMDR25: a case report.
Na-Chuan Cheng, Ming-Shi Gao, Ke-Xin Jiao, D. Yue +4 more
2022Neuromuscular Disorders7 citations
Semantic Scholar
Diagnostic delay in late‐onset Pompe disease among Chinese patients: A retrospective study
D. Yue, Ke-Xin Jiao, Xing-Yu Xia, Jialong Zhang +11 more
2023JIMD Reports6 citations Open access
Semantic Scholar
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia
Ke-Xin Jiao, Na-Chuan Cheng, Xiao Huan, Jialong Zhang +17 more
2024Muscle and Nerve5 citations
Semantic Scholar
High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study
Ke-Xin Jiao, Bo-Chen Zhu, Xue-Li Chang, Jun-Hong Guo +46 more
2024Journal of Inherited Metabolic Disease5 citations
Semantic Scholar
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
Ke-Xin Jiao, Jialong Zhang, Qiu-Xiang Li, Xiao-Qing Lv +37 more
2024Journal of Medical Genetics5 citations
Semantic Scholar
4qA D4Z4 methylation test as a valuable complement for differential diagnosis in patients with FSHD-like phenotype.
Xing-Yu Xia, Na-Chuan Cheng, Yiqi Liu, D. Yue +19 more
2025Journal of Molecular Diagnostics4 citations Open access
Semantic Scholar
NOTCH2NLC‐related oculopharyngodistal myopathy type 3 with cardiomyopathy and nephropathy
X. Gu, D. Yue, K. Qiao, Guo-Qian Huang +3 more
2023Muscle and Nerve4 citations
Semantic Scholar
Exertional myalgia, contractures and annular erythema in a patient with muscle lactate dehydrogenase (LDH) deficiency.
D. Yue, Wen-Hua Zhu, Chongbo Zhao
2018Neuromuscular Disorders4 citations
Semantic Scholar
Translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2.
Ke-Xin Jiao, Xin-Yu Chen, Meng-Ye Cao, Jialong Zhang +14 more
2025Brain : a journal of neurology3 citations
Semantic Scholar
Phospho‐MLKL Upregulation in Immune‐Mediated Necrotizing Myopathy: Implications for Disease Pathophysiology and Diagnosis
Ming-Shi Gao, Na-Chuan Cheng, D. Yue, Zhang-Yang Wang +9 more
2026Neuropathology (Kyoto. 1993)1 citations Open access
Semantic Scholar
[Clinical and genetic analysis of a patient with Desminopathy manifesting initially with myalgia after lower limb activity].
Ji-Bao Wu, Jiping Yi, Wen-Hua Zhu, D. Yue +1 more
2024Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics1 citations
Semantic Scholar
The correlation of clinical evaluation with life quality and mental status in a Chinese cohort with dysferlinopathy.
Xuelin Feng, Changxia Liu, J. Xi, Chong Sun +6 more
2020Journal of clinical neuroscience1 citations
Semantic Scholar
Correction: GNE myopathy in Chinese population: hotspot and novel mutations
Yang Chen, J. Xi, Wen-Hua Zhu, Jie Lin +9 more
2018Journal of Human Genetics1 citations Open access
Semantic Scholar
3.08P Clinical characteristics and genotype-phenotype correlation of oculopharyngodistal myopathy: a single-center study in China
Ke-Xin Jiao, Xin-Yu Chen, D. Yue, Ming-Shi Gao +3 more
2026Neuromuscular Disorders0 citations
Semantic Scholar
An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.
Bo-Chen Zhu, Ke-Xin Jiao, Xiaona Luo, Ming-Shi Gao +9 more
2026Human Molecular Genetics0 citations
Semantic Scholar
MyoPath: A deep learning pipeline for objective morphometric assessment of skeletal muscle biopsies
Huahua Zhong, Ming-Shi Gao, Shang Ma, Wen-Han Zhang +11 more
2026Journal of Pathology Informatics0 citations Open access
Semantic Scholar
Case Report: Anti-cavin-4-positive immune-mediated rippling muscle disease co-occurring with isolated ocular myasthenia gravis
Bai-Tong Wang, An-Zhe Zheng, Ming-Shi Gao, D. Yue +3 more
2026Frontiers in Immunology0 citations Open access
Semantic Scholar
2.117P MyoPath: a deep learning pipeline for objective morphometric assessment of skeletal muscle biopsies
Huahua Zhong, Ming-Shi Gao, Shang Ma, Wen-Han Zhang +11 more
2026Neuromuscular Disorders0 citations
Semantic Scholar
Case Report: Diverse cardiac and muscular phenotypes in DES c.1024A>G (p.Asn342Asp) variant: a case series with limb weakness as the initial presentation
Liuyang Wang, D. Yue, Zijun Chen
2025Frontiers in Cardiovascular Medicine0 citations Open access
Semantic Scholar
Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case
Xia-Jun Zhou, Xingxing Zhong, Ming-Shi Gao, D. Yue +9 more
2025Open Medicine0 citations Open access
Semantic Scholar
Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy
Xing-Yu Xia, Ke-Xin Jiao, Chaoping Hu, Na-Chuan Cheng +10 more
2025Journal of Human Genetics0 citations
Semantic Scholar
[Advances in the specific treatments of Pompe disease].
Ke-Xin Jiao, D. Yue, W.-H. Zhu
2023Zhonghua nei ke za zhi0 citations
Semantic Scholar
Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report.
X. Gu, Ke-Xin Jiao, D. Yue, Xilu Wang +7 more
2023Neuromuscular Disorders0 citations
Semantic Scholar
Human-induced pluripotent stem cell line (FDHSi001-A) derived from a patient with a CGG repeat expansion in the 5'UTR of GIPC1.
Ke-Xin Jiao, D. Yue, Xin-yu Gu, Na-Chuan Cheng +9 more
2022Stem Cell Research0 citations Open access
Semantic Scholar
Juvenile dermatomyositis in a Duchenne muscular dystrophy carrier.
Sheng Hao, D. Yue, Wen-Hua Hao, Wen-Yan Huang
2022Clinical and Experimental Rheumatology0 citations Open access
Semantic Scholar
Prominent Respiratory Involvement Featured in High-Risk Screening for Late-Onset Pompe Disease in China
Ke-Xin Jiao, Jihong Dong, Su-Shan Luo, Li-Qiang Yu +27 more
20210 citations Open access
Semantic Scholar
EP.26Phenotype may predict the clinical severity of facioscapulohumeral muscular dystrophy
Y. Liu, D. Yue, Wen-Hua Zhu, Jing Li +8 more
2019Neuromuscular Disorders0 citations
Semantic Scholar
Early-onset facioscapulohumeral muscular dystrophy with Coats syndrome: a case report
Yiqi Liu, D. Yue, Hua Liu, Wen-Hua Zhu +3 more
20190 citations
Semantic Scholar
EP.36PATCHS MRI score correlates with clinical severity in facioscapulohumeral muscular dystrophy
Y. Liu, D. Yue, Wen-Hua Zhu, Jin Li +8 more
2019Neuromuscular Disorders0 citations
Semantic Scholar
P.232Hereditary myopathy with early respiratory failure in Chinese population
Wen-Hua Zhu, Su-Shan Luo, Zhao-Xia Wang, Jie Lin +4 more
2019Neuromuscular Disorders0 citations
Semantic Scholar
LIMB-GIRDLE MUSCULAR DYSTROPHY I
S. Luo, S. Cai, M. Gao, J. Xi +4 more
2018Neuromuscular Disorders0 citations
Semantic Scholar
以强直脊柱综合征起病的糖原贮积症II型一例
D. Yue, Wen-Huan Zhu, J. Xi, Zhi-Ying Wu +5 more
20140 citations
Semantic Scholar
Application of Demyelinating Diseases with Children in MRI
D. Yue
20000 citations
Semantic Scholar

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