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Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations
Yu M, Zhu Y, Lu Y, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 344
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
Zhong H, Zheng Y, Zhao Z, et al.
Journal of medical genetics, 2020
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
Deng J, Yu J, Li P, et al.
American journal of human genetics, 2020, 106, 6, p 793
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy
Wang Q, Hu Z, Chang X, et al.
Clinical genetics, 2020
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex
Xie Z, Xie Z, Yu M, et al.
Orphanet journal of rare diseases, 2019, 14, 1, p 250
Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases
Hou Y, Xie Z, Zhao X, et al.
PLoS ONE, 2019, 14, 7
Haplotype-Based noninvasive prenatal diagnosis for duchenne muscular dystrophy: A pilot study in South China.
Chen M, Chen C, Li Y, et al.
European journal of obstetrics, gynecology, and reproductive biology, 2019, 240, p 15
Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement.
Ge L, Fu X, Zhang W, et al.
Neuromuscular disorders : NMD, 2019, 29, n5, p 350
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients
Xie Z, Xie Z, Hou Y, et al.
Orphanet journal of rare diseases, 2019, 14, 1
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
Xie Z, Xiao J, Zheng Y, et al.
BioMed research international, 2018
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies
Fan Y, Liu A, Wei C, et al.
Clinical genetics, 2018
Association of hepatitis E virus infection and myasthenia gravis: A pilot study
Wang L, Gao F, Lin G, et al.
Journal of hepatology, 2018, 68, 6, p 1318
Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy
Lu Y, Zhao D, Yao S, et al.
Journal of the neurological sciences, 2017, 379, p 137
Childhood autoimmune necrotizing myopathy with anti-signal recognition particle antibodies
Zhao Y, Liu X, Zhang W, et al.
Muscle & Nerve, 2017, 56, 6, p 1181
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing
Yu M, Zheng Y, Jin S, et al.
PLoS ONE, 2017, 12, 4
Targeted sequencing of maternal plasma for haplotype-based noninvasive prenatal testing of spinal muscular atrophy
Chen M, Lu S, Lai Z, et al.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2017, 49, 6, p 799
"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies
Fu J, Zheng YM, Jin SQ, et al.
Chinese medical journal, 2016, 129, 15, p 1811
Genotype/phenotype analysis in Chinese laminin-alpha2 deficient congenital muscular dystrophy patients
Xiong H, Tan D, Wang S, et al.
Clinical genetics, 2015, 87, 3, p 233
The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies
Zheng Y, Li W, Du J, et al.
European journal of radiology, 2015, 84, 10, p 1992
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy
Zhao J, Wang Z, Hong D, et al.
Journal of the neurological sciences, 2015, 354, 1-2, p 21
Clinical and muscle imaging findings in 14 mainland Chinese patients with oculopharyngodistal myopathy
Zhao J, Liu J, Xiao J, et al.
PLoS ONE, 2015, 10, 6
Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Studies in a Chinese Population
Shan J, Chen B, Lin P, et al.
Neuromolecular medicine, 2014, 16, 4, p 782
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy
Charizanis K, Lee KY, Batra R, et al.
Neuron, 2012, 75, 3, p. 437-450
Asian patients with limb girdle muscular dystrophy 2I (LGMD2I)
Hong D, Zhang W, Wang W, et al.
Journal of clinical neuroscience, 2011, 18, 4, p. 494-499
