Zhiying Xie

发表

A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images

Zhaoxia Wang, Yun Yuan, Jiang-xi Xiao, 2021, BMC Neurology.

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.

Y. Liang, H. Lv, Wei Zhang, 2020, American journal of human genetics.

Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy

H. Lv, Wei Zhang, Zhaoxia Wang, 2020, Clinical genetics.

Quantitative coordination evaluation for screening children with Duchenne muscular dystrophy.

Jing Fang, Zhaoxia Wang, Yun Yuan, 2020, Chaos.

Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases

Zhaoxia Wang, Yun Yuan, Zhiying Xie, 2019, PloS one.

First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy

H. Lv, Zhaoxia Wang, Yun Yuan, 2022, Frontiers in Pediatrics.

Novel and Recurrent Mutations in a Cohort of Chinese Patients With Young-Onset Amyotrophic Lateral Sclerosis

H. Lv, Wei Zhang, Zhaoxia Wang, 2019, Front. Neurosci..

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene

S. Leal, Wei Zhang, Zhaoxia Wang, 2020, Genes.

Circulating cell-free mtDNA release is associated with the activation of cGAS-STING pathway and inflammation in mitochondrial diseases

H. Lv, Wei Zhang, Zhaoxia Wang, 2022, Journal of Neurology.

Genotype–phenotype correlation in Becker muscular dystrophy in Chinese patients

Zhaoxia Wang, Yun Yuan, Zhiying Xie, 2018, Journal of Human Genetics.

Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era

S. Leal, Wei Zhang, Zhaoxia Wang, 2020, Journal of Medical Genetics.

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration

Zhaoxia Wang, Yun Yuan, H-S Jin, 2022, Frontiers in Neurology.

Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation

H. Lv, Wei Zhang, Zhaoxia Wang, 2022, Frontiers in Molecular Neuroscience.

Perimysial microarteriopathy in dermatomyositis with anti‐nuclear matrix protein‐2 antibodies

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2020, European journal of neurology.

Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophy

H. Lv, Wei Zhang, Zhaoxia Wang, 2022, Frontiers in Genetics.

Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies

S. Leal, Wei Zhang, Zhaoxia Wang, 2020, Annals of clinical and translational neurology.

Exploring mechanisms of Chaihu-Shugan-San against liver fibrosis by integrated multi-omics and network pharmacology approach

Chunxia Yang, Zhiying Xie, Zhihao Xie, 2022, Bioscience reports.

Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene

Zhaoxia Wang, Yun Yuan, Yi-ming Zheng, 2018, BioMed research international.

Su-MICL: Severity-Guided Multiple Instance Curriculum Learning for Histopathology Image Interpretable Classification

Zhaoxia Wang, Yun Yuan, Zhiying Xie, 2022, IEEE Transactions on Medical Imaging.

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2019, Orphanet Journal of Rare Diseases.

Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions

H. Lv, Wei Zhang, Zhaoxia Wang, 2022, Molecular genetics & genomic medicine.

T2 Mapping and Fat Quantification of Thigh Muscles in Children with Duchenne Muscular Dystrophy

Yun Yuan, Zhiying Xie, Jiangxi Xiao, 2019, Current Medical Science.

Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2019, Orphanet Journal of Rare Diseases.

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy

Wei Zhang, Yun Yuan, Ichizo Nishino, 2019, Annals of clinical and translational neurology.

Deep Gray Matter Iron Deposition and Its Relationship to Clinical Features in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2020, Stroke.

Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis.

H. Lv, Wei Zhang, Zhaoxia Wang, 2022, Pediatric neurology.

Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants

S. Leal, Zhaoxia Wang, Yun Yuan, 2022, Journal of Neurology.

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.

H. Lv, Wei Zhang, Zhaoxia Wang, 2022, American journal of human genetics.

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

H. Lv, Wei Zhang, Zhaoxia Wang, 2021, Brain : a journal of neurology.

An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene

Zhiying Xie, Zunjin Liu, Yan Xu, 2022, Annals of clinical and translational neurology.

Response to Eura et al.

H. Lv, Wei Zhang, Zhaoxia Wang, 2022, American journal of human genetics.

Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients

H. Lv, Wei Zhang, Zhaoxia Wang, 2021, Neurological Sciences.

Sural nerve pathology in TFG‐associated motor neuron disease with sensory neuropathy

Rui Wu, Wei Zhang, Zhaoxia Wang, 2019, Neuropathology : official journal of the Japanese Society of Neuropathology.

Subsarcolemmal and cytoplasmic p62 positivity and rimmed vacuoles are distinctive for PLIN4 ‐myopathy

H. Lv, Wei Zhang, Zhaoxia Wang, 2022, Annals of clinical and translational neurology.

Reduced blood flow velocity in lenticulostriate arteries of patients with CADASIL assessed by PC-MRA at 7T

Y. Zhuo, Wei Zhang, Zhaoxia Wang, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

RNA-seq profiling, and impaired autophagic process in skeletal muscle of MELAS.

Zhaoxia Wang, Jing Liu, Yun Yuan, 2019, Biochemical and biophysical research communications.

Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP‐related multisystem proteinopathy

Zhaoxia Wang, Yun Yuan, Yi-ming Zheng, 2023, Molecular genetics & genomic medicine.

Genotype–phenotype correlation in Becker muscular dystrophy in Chinese patients

Zhaoxia Wang, Yun Yuan, Zhiying Xie, 2018, Journal of Human Genetics.

Comparison of cytokine/chemokine profiles between dermatomyositis and anti-synthetase syndrome

F. Gao, Wei Zhang, Zhaoxia Wang, 2022, Frontiers in Neurology.

Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy

Wei Zhang, Wei Zhang, Zhaoxia Wang, 2023, Neuromuscular Disorders.

Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.

H. Lv, Wei Zhang, Zhaoxia Wang, 2023, Neuropathology : official journal of the Japanese Society of Neuropathology.

Cryptic exon activation caused by a novel deep‐intronic splice‐altering variant in Becker muscular dystrophy

Zhaoxia Wang, Zhiying Xie, Jiaxi Yu, 2023, Journal of clinical laboratory analysis.

Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene

Zhaoxia Wang, Yun Yuan, Yi-ming Zheng, 2018, BioMed research international.

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

Zhaoxia Wang, Zhiying Xie, Yawen Zhao, 2024, Orphanet journal of rare diseases.

A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report

Zhiying Xie, Yawen Zhao, Jianwen Deng, 2024, Heliyon.

A new pseudoexon activation due to ultrarare branch point formation in Duchenne muscular dystrophy

Wei Zhang, Zhaoxia Wang, Zhiying Xie, 2023, Neuromuscular Disorders.

The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2023, Molecular genetics & genomic medicine.