Yun Yuan

发表

Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort

Rui Wu, H. Lv, Wei Zhang, 2017, BioMed research international.

Progression and variation of fatty infiltration of the thigh muscles in Duchenne muscular dystrophy, a muscle magnetic resonance imaging study

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2015, Neuromuscular Disorders.

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

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

The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies.

H. Lv, Wei Zhang, Zhaoxia Wang, 2015, European journal of radiology.

Modeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells

J. C. Belmonte, J. Qu, Weiqi Zhang, 2019, Protein & Cell.

Genetic defects are common in myopathies with tubular aggregates

Zhaoxia Wang, Yun Yuan, J. Holton, 2021, Annals of clinical and translational neurology.

Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A

Wei Zhang, Yun Yuan, X. Luan, 2009, Neuropathology : official journal of the Japanese Society of Neuropathology.

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

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

Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy

H. Lv, Wei Zhang, Zhaoxia Wang, 2015, PloS one.

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

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

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Yun Yuan, C. Bönnemann, Chunde Li, 2021, Orphanet Journal of Rare Diseases.

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients

Su-xia Wang, Zhaoxia Wang, Yun Yuan, 2020, Journal of Medical Genetics.

Skeletal Muscle Involvement Pattern of Hereditary Transthyretin Amyloidosis: A Study Based on Muscle MRI

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

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy

Wei Zhang, Yue-huan Zuo, Jing Liu, 2018, Chinese medical journal.

Reduced Venous Oxygen Saturation Associates With Increased Dependence of Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A 7.0-T Magnetic Resonance Imaging Study.

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2019, Stroke.

Study of Enhanced Depth Imaging Optical Coherence Tomography in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Yun Yuan, Yuan Wu, Zihao Zhang, 2017, Chinese medical journal.

Quantitative coordination evaluation for screening children with Duchenne muscular dystrophy.

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

Efficacy and Safety of Tacrolimus Therapy for a Single Chinese Cohort With Very-Late-Onset Myasthenia Gravis

F. Gao, Zhaoxia Wang, Yun Yuan, 2022, Frontiers in Neurology.

The overlap of corticobasal degeneration and Alzheimer changes: An autopsy case

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2009, Neuropathology (Kyoto. 1993).

MR evaluation of cerebral oxygen metabolism and blood flow in stroke-like episodes of MELAS

Dan-hua Zhao, Zhaoxia Wang, Yun Yuan, 2012, Journal of the Neurological Sciences.

Clinicopathological features in two families with MARS‐related Charcot–Marie–Tooth disease

H. Lv, Yun Yuan, Meng Yu, 2022, Neuropathology : official journal of the Japanese Society of Neuropathology.

Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early‐onset Parkinson's disease

Zhaoxia Wang, Yun Yuan, E. Pinkhardt, 2020, Brain and behavior.

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.

Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation

H. Lv, Wei Zhang, Zhaoxia Wang, 2017, Clinical neuropathology.

The polyG diseases: a new disease entity

Zhaoxia Wang, Yun Yuan, Jianwen Deng, 2022, Acta Neuropathologica Communications.

Homocysteine and Peripheral Neuropathy

Yun Yuan, Xiaohong Si, J. Luo, 2020 .

Lipidomic profiling of plasma samples from patients with mitochondrial disease.

Zhaoxia Wang, Yun Yuan, Juntuo Zhou, 2018, Biochemical and biophysical research communications.

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.

Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family.

Yun Yuan, Z. Pei, B. Liao, 2015, International journal of clinical and experimental pathology.

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..

Retinal vascular signs and cerebrovascular disease – a response

Yun Yuan, Yang Liu, 2009 .

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL

H. Lv, Wei Zhang, Zhaoxia Wang, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2019, Neuromuscular Disorders.

A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot–Marie–Tooth disease

Yun Yuan, Jun Fu, 2018, Neuromuscular Disorders.

Patterns of myelinated nerve fibers loss in transthyretin amyloid polyneuropathy and mimics

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

Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2009, Neuropathology : official journal of the Japanese Society of Neuropathology.

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese

Yun Yuan, A. Headley, S. Yao, 2007, Neuropathology : official journal of the Japanese Society of Neuropathology.

Rui Wu, H. Lv, Zhaoxia Wang, 2017, Neuromuscular Disorders.

FUS Mutation Causes Disordered Lipid Metabolism in Skeletal Muscle Associated with ALS

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2022, Molecular Neurobiology.

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.

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients

Zhaoxia Wang, Yun Yuan, C. Que, 2022, Frontiers in Genetics.

Phenotype–Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy

Yun Yuan, C. Bonnemann, Hai-po Yang, 2014, PloS one.

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.

Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease

Zhaoxia Wang, Yun Yuan, Yining Huang, 2019, Journal of Medical Genetics.

Genotype–phenotype correlation in Becker muscular dystrophy in Chinese patients

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

CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

Wei Zhang, Yue-huan Zuo, Jing Liu, 2017, Chinese medical journal.

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.

HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.

Rui Wu, H. Lv, Wei Zhang, 2018, Clinical neuropathology.

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

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

Childhood autoimmune necrotizing myopathy with anti‐signal recognition particle antibodies

Wei Zhang, Yun Yuan, Yawen Zhao, 2017, Muscle & nerve.

Myopathy with anti-signal recognition particle antibodies: Clinical and histopathological features in Chinese patients

F. Gao, H. Lv, Wei Zhang, 2014, Neuromuscular Disorders.

The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy

Rui Wu, H. Lv, Zhaoxia Wang, 2021, Frontiers in Neuroscience.

Reduction expression of thrombomodulin and endothelial cell nitric oxide synthase in dermatomyositis

H. Lv, Wei Zhang, Yun Yuan, 2007, Neuropathology : official journal of the Japanese Society of Neuropathology.

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

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

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

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

Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A

Wei Zhang, Zhaoxia Wang, Jing Liu, 2015, Muscle & nerve.

Lamivudine/telbivudine-associated neuromyopathy: neurogenic damage, mitochondrial dysfunction and mitochondrial DNA depletion

H. Lv, Wei Zhang, Zhaoxia Wang, 2014, Journal of Clinical Pathology.

Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion

Dan-hua Zhao, Wei Zhang, Zhaoxia Wang, 2013, Clinical Neurology and Neurosurgery.

A cohort study of Han Chinese MFN2-related Charcot–Marie–Tooth 2A

H. Lv, Wei Zhang, Zhaoxia Wang, 2015, Journal of the Neurological Sciences.

A novel mutation in PRPS1 causes X‐linked Charcot‐Marie‐Tooth disease‐5

H. Lv, Wei Zhang, Zhaoxia Wang, 2019, Neuropathology : official journal of the Japanese Society of Neuropathology.

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

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

Fukutin gene retrotransposal insertion in a non‐Japanese Fukuyama congenital muscular dystrophy (FCMD) patient

Yun Yuan, T. Toda, Yuwu Jiang, 2009, American journal of medical genetics. Part A.

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.

Encephalic large arteries narrowness and peripheral neuropathy in a patient with adult-onset Still’s disease

Yun Yuan, Xuedong Yang, Hong Zhao, 2008, Rheumatology International.

Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy

Wei Zhang, Yun Yuan, Yawen Zhao, 2018, Chinese medical journal.

Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency

Dan-hua Zhao, H. Lv, Wei Zhang, 2016, Neuromuscular Disorders.

Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.

Zhaoxia Wang, Yun Yuan, Y. Qi, 2006, Chinese medical journal.

AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2018, Journal of neuropathology and experimental neurology.

A novel heterozygous deletion–insertion mutation (2695–2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2010, Neuromuscular Disorders.

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 features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

H. Lv, Wei Zhang, Zhaoxia Wang, 2020, Orphanet Journal of Rare Diseases.

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.

Alpers syndrome with prominent white matter changes

Yun Yuan, Yuehua Zhang, L. Wong, 2008, Brain and Development.

Association of hepatitis E virus infection and myasthenia gravis: A pilot study.

Yun Yuan, F. Gao, Yining Huang, 2018, Journal of hepatology.

Severe Recurrent Necrotizing Myopathy in Pregnancy: A Case Report

Yun Yuan, B. Bu, L. Meng, 2018, Front. Neurol..

Sex differences in frontotemporal atrophy in CADASIL revealed by 7-Tesla MRI

Danny J. J. Wang, Yun Yuan, X. Jia, 2022, NeuroImage: Clinical.

The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia

Zhaoxia Wang, Yun Yuan, Yuhe Liu, 2015, Mitochondrial DNA.

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.

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

H. Lv, Wei Zhang, Zhaoxia Wang, 2017, PLoS ONE.

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

Wei Zhang, Yun Yuan, Suqin Jin, 2016, Chinese medical journal.

Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy

H. Lv, Wei Zhang, Zhaoxia Wang, 2016, Muscle & nerve.

Magnetic resonance imaging changes of thigh muscles in myopathy with antibodies to signal recognition particle.

H. Lv, Wei Zhang, Zhaoxia Wang, 2015, Rheumatology.

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.

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients

Yun Yuan, Ning Wang, T. Toda, 2020, Clinical genetics.

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

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

Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective

H. Lv, Wei Zhang, Zhaoxia Wang, 2021, Human mutation.

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.

Factors associated with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodies

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2020, Orphanet Journal of Rare Diseases.

The expression of BAFF in the muscles correlate with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodies

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2020 .

“Target” and “Sandwich” Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies

Wei Zhang, Yun Yuan, Yi-ming Zheng, 2016, Chinese medical journal.

Profiling of Differentially Expressed MicroRNAs in Saliva of Parkinson's Disease Patients

Zhaoxia Wang, Yun Yuan, Jing Chen, 2021, Frontiers in Neurology.

Modeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells

J. Qu, Weiqi Zhang, Zhaoxia Wang, 2019, Protein & Cell.

CRISPR/Cas9-mediated targeted gene correction in amyotrophic lateral sclerosis patient iPSCs

F. Yi, J. Qu, Keiichiro Suzuki, 2017, Protein & Cell.

Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs

J. Qu, Jiping Yang, Weiqi Zhang, 2016, Protein & Cell.

Levetiracetam administration is correlated with lower mortality in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: a retrospective study

Dan-hua Zhao, Yun Yuan, X. Bao, 2019, Chinese medical journal.

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy

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

Heterogeneity of axonal pathology in chinese patients with giant axonal neuropathy

Dan-hua Zhao, H. Lv, Wei Zhang, 2014, Muscle & nerve.

Small molecule agonist of mitochondrial fusion repairs mitochondrial dysfunction

H. Lv, Zhaoxia Wang, Yun Yuan, 2023, Nature Chemical Biology.

Widespread Mislocalization of FUS Is Associated With Mitochondrial Abnormalities in Skeletal Muscle in Amyotrophic Lateral Sclerosis With FUS Mutations.

Wei Zhang, Zhaoxia Wang, Jing Liu, 2022, Journal of neuropathology and experimental 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.

Lenticulostriate Arteries and Basal Ganglia Changes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy, a High-Field MRI Study

Y. Zhuo, Wei Zhang, Zhaoxia Wang, 2019, Front. Neurol..

The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations

H. Lv, Wei Zhang, Zhaoxia Wang, 2015, Journal of the Neurological Sciences.

Retinal arterial abnormalities correlate with brain white matter lesions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy

Yun Yuan, S. Xie, X. Luan, 2008, Clinical & experimental ophthalmology.

Dux4 induces cell cycle arrest at G1 phase through upregulation of p21 expression.

H. Lv, Wei Zhang, Zhaoxia Wang, 2014, Biochemical and biophysical research communications.

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

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

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

H. Lv, Wei Zhang, Zhaoxia Wang, 2021, Annals of clinical and translational neurology.

Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy

Wei Zhang, H. Lv, Yun Yuan, 2018, Neuromuscular Disorders.

Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy

Dan-hua Zhao, Zhaoxia Wang, Jing Liu, 2017, Journal of the Neurological Sciences.

Novel RYR1 missense mutations in six Chinese patients with central core disease

Zhaoxia Wang, Yun Yuan, Y. Da, 2014, Neuroscience Letters.

Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease

Yun Yuan, Ying Han, J. Qin, 2013, Journal of child neurology.

Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy

Dan-hua Zhao, Yun Yuan, C. Bonnemann, 2014, World Journal of Pediatrics.

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.

Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective

H. Lv, Wei Zhang, Zhaoxia Wang, 2020, Journal of Medical Genetics.

Congenital muscular dystrophies in China

Zhaoxia Wang, Yun Yuan, C. Bönnemann, 2019, Clinical genetics.

Wei Zhang, Zhaoxia Wang, Jing Liu, 2019, Journal of Human Genetics.

Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Studies in a Chinese Population

Yun Yuan, P. Lin, Chuanzhu Yan, 2014, NeuroMolecular Medicine.

The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family

Yun Yuan, Chuanzhu Yan, Weiping Sun, 2008, Neuropathology : official journal of the Japanese Society of Neuropathology.

Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene

Zhaoxia Wang, Yun Yuan, D. Hong, 2010, Muscle & nerve.

Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy

H. Lv, Wei Zhang, Zhaoxia Wang, 2015, Journal of the Neurological Sciences.

Response to Eura et al.

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

Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease

Wei Zhang, Zhaoxia Wang, Jing Liu, 2021, Journal of Medical Genetics.

Hereditary Transthyretin Amyloidosis in Eight Chinese Families

Wei Zhang, Jing Liu, Yun Yuan, 2015, Chinese medical journal.

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.

GGC Repeat Expansion in the NOTCH2NLC Gene Is Associated With a Phenotype of Predominant Motor–Sensory and Autonomic Neuropathy

H. Lv, Wei Zhang, Zhaoxia Wang, 2021, Frontiers in Genetics.

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.

Late‐onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2‐related diseases

Rui Wu, H. Lv, Zhaoxia Wang, 2018, Neuropathology : official journal of the Japanese Society of Neuropathology.

Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy

Zhaoxia Wang, Yun Yuan, Jianwen Deng, 2022, European journal of neurology.

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

H. Lv, Wei Zhang, Zhaoxia Wang, 2021, Annals of clinical and translational neurology.

Asian patients with limb girdle muscular dystrophy 2I (LGMD2I)

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2011, Journal of Clinical Neuroscience.

Patients with MELAS with negative myopathology for characteristic ragged-red fibers

Dan-hua Zhao, Zhaoxia Wang, Yun Yuan, 2019, Journal of the Neurological Sciences.

Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

CIDP/autoimmune nodopathies with nephropathy: a case series study

F. Gao, H. Lv, Wei Zhang, 2023, Annals of clinical and translational neurology.

Survival analysis of a cohort of Chinese patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) based on clinical features

Dan-hua Zhao, Zhaoxia Wang, Yun Yuan, 2018, Journal of the Neurological Sciences.

Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses.

H. Lv, Zhaoxia Wang, Yun Yuan, 2013, Clinical neuropathology.

Acute severe asthma with thyroid crisis and myasthenia: a case report and literature review

Yun Yuan, Yali Zheng, J. Bao, 2017, The clinical respiratory journal.

Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2020, BMC Neurology.

Hot spot mutations in electron transfer flavoprotein dehydrogenase gene of riboflavin responsive lipid storage myopathy in 20 Chinese families

Dan-hua Zhao, Zhaoxia Wang, Yun Yuan, 2011 .

Chronic inflammatory demyelinating polyneuropathy with hypoglossal nerve involvement and inverted Beevor’s sign: case report

H. Lv, Wei Zhang, Zhaoxia Wang, 2021, BMC Neurology.

Characterization of ocular involvement in patients with Fabry disease

Wei Zhang, Yun Yuan, Yawen Zhao, 2020 .

Childhood chronic inflammatory demyelinating polyneuropathy with nonuniform pathologic features.

Yun Yuan, X. Luan, Bin Chen, 2010, Pediatric neurology.

[Diagnosis of congenital muscular dystrophy and clinical significance of merosin expression].

Yun Yuan, Yuehua Zhang, X. Bao, 2006, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2010, Neuropathology : official journal of the Japanese Society of Neuropathology.

Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Dan-hua Zhao, H. Lv, Wei Zhang, 2011, Journal of Human Genetics.

Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies.

Zhaoxia Wang, Yun Yuan, Y. Qi, 2007, Mitochondrion.

Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2007, Neuropathology : official journal of the Japanese Society of Neuropathology.

Clinical and muscular pathological characteristics of hypomyopathic dermatomyositis : an analysis of six cases

Yun Yuan, Xiao‐lei Zhang, D. Hong, 2016 .

Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2020, Frontiers in Neurology.

Anti-NXP2-antibody-positive immune-mediated necrotizing myopathy associated with acute myeloid leukemia

Wei Zhang, Yun Yuan, Zhanguo Li, 2018, Medicine.

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.

Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation

H. Lv, Wei Zhang, Zhaoxia Wang, 2014, BMC Medical Genetics.

Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients

Yun Yuan, Xiuli Huang, Hui Xiong, 2023, Frontiers in Neurology.

Diffusion prepared pseudo-continuous arterial spin labeling reveals blood–brain barrier dysfunction in patients with CADASIL

Danny J. J. Wang, Zhaoxia Wang, Yun Yuan, 2023, European Radiology.

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.

The phenotypic spectrum of COX20-associated mitochondrial disorder.

M. Elstner, H. Prokisch, Zhaoxia Wang, 2022, Brain : a journal of neurology.

Homozygous splice‐site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy

Rui Wu, H. Lv, Zhaoxia Wang, 2019, Neuropathology (Kyoto. 1993).

A case of adult onset of Alexander disease with nocturnal painless burns, autonomic dysfunction, and peripheral nerve impairment

Zhaoxia Wang, Yun Yuan, Haiqiang Jin, 2020, Clinical Neurology and Neurosurgery.

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

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

Congenital myasthenic syndrome in China: genetic and myopathological characterization

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2021, Annals of clinical and translational neurology.

Sex differences in frontotemporal atrophy in CADASIL revealed by 7-Tesla MRI

Danny J. J. Wang, Yun Yuan, X. Jia, 2022, NeuroImage: Clinical.

Vagus nerve ultrasound in transthyretin familial amyloid polyneuropathy: A pilot study

H. Lv, Wei Zhang, Zhaoxia Wang, 2021, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

The polyG diseases: a new disease entity

Zhaoxia Wang, Yun Yuan, Jianwen Deng, 2022, Acta neuropathologica communications.

A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family

Yun Yuan, J. Miao, Xue-Fan Yu, 2018, BMC Neurology.

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.

DPPX antibody-associated encephalitis: A short report on a Chinese patient

Zhaoxia Wang, Yun Yuan, Haiqiang Jin, 2023, Neuroimmunology Reports.

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

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

Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies

Dan-hua Zhao, Zhaoxia Wang, Yun Yuan, 2014, Chinese medical journal.

A 47-year-old woman with progressive numbness and weakness in the limbs

Yun Yuan, L. Meng, Shan Chen, 2019, A Case-Based Guide to Neuromuscular Pathology.

Investigation of ocular involvement in patients with Fabry disease

Wei Zhang, Yun Yuan, Yawen Zhao, 2023, Annals of medicine.

Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy

H. Lv, Wei Zhang, Zhaoxia Wang, 2021, Frontiers in Neurology.

TTR Gly83Arg Mutation: Beyond Familial Vitreous Amyloidosis

H. Lv, 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.

[Rheumatoid leptomeningitis: a case report and literature review].

H. Lv, Wei Zhang, Yun Yuan, 2006, Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences.

Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy

Yun Yuan, Y. Yuan, Y. Jiang, 2009, European journal of neurology.

Disseminated Encephalomyelitis-Like Central Nervous System Neoplasm in Childhood

Yun Yuan, Yuehua Zhang, Chunyu Zhang, 2014, Journal of child neurology.

Respiratory Failure as the Presenting Symptom in a Sporadic Case of Cap Myopathy.

H. Lv, Wei Zhang, Zhaoxia Wang, 2020, Journal of neuropathology and experimental neurology.

[Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features].

Zhaoxia Wang, Yun Yuan, D. Peng, 2019, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum.

Zhaoxia Wang, Yun Yuan, D. Hong, 2012, Clinical neuropathology.

Mitochondrial morphology and MAVS‐IFN1 signaling pathway in muscles of anti‐MDA5 dermatomyositis

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2021, Annals of clinical and translational neurology.

Clinicopathological and circulating cell‐free DNA profile in myositis associated with anti‐mitochondrial antibody

Wei Zhang, Wei Zhang, Zhaoxia Wang, 2023, Annals of clinical and translational neurology.

Clinical and pathological features in adult-onset NIID patients with cortical enhancement

Zhaoxia Wang, Yun Yuan, Huiting Liang, 2020, Journal of Neurology.

Brain MRI correlations with disease burden and biomarkers in Fabry disease

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2023, Journal of Neurology.

[Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China].

Zhaoxia Wang, Yun Yuan, Yuechen Liu, 2018, Zhonghua er ke za zhi = Chinese journal of pediatrics.

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.

Wei Zhang, Zhaoxia Wang, Jing Liu, 2019, Journal of Human Genetics.

Lipidomic profiling of plasma samples from patients with mitochondrial disease.

Zhaoxia Wang, Yun Yuan, Juntuo Zhou, 2018, Biochemical and biophysical research communications.

What should we expect when two myositis-specific antibodies coexist in a patient

Wei Zhang, Zhaoxia Wang, Yun Yuan, 2023, European Journal of Medical Research.

Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs

J. Qu, Jiping Yang, Weiqi Zhang, 2016, Protein & Cell.

Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A

Wei Zhang, Zhaoxia Wang, Jing Liu, 2015, Muscle & nerve.

Retinal arterial abnormalities correlate with brain white matter lesions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy

Yun Yuan, S. Xie, X. Luan, 2008, Clinical & experimental ophthalmology.

Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A.

Zhaoxia Wang, Yun Yuan, Luzeng Chen, 2023, Medical ultrasonography.

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.

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome

Wei Zhang, Yue-huan Zuo, Jing Liu, 2016, Chinese medical journal.