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TAK1 inhibition improves myoblast differentiation and alleviates fibrosis in a mouse model of Duchenne muscular dystrophy
Xu D, Li S, Wang L, et al.
Journal of cachexia, sarcopenia and muscle, 2020
Gene therapeutic strategies and relevant clinical trials in neuromuscular disorder in China
Hu C, Li X
Gene therapy, 2020
The Diagnostic Value of MR IVIM and T2 Mapping in Differentiating Autoimmune Myositis From Muscular Dystrophy
Ran J, Yin C, Liu C, et al.
Academic radiology, 2020
Exposure-Response Analysis of Vamorolone (VBP15) in Boys With Duchenne Muscular Dystrophy
Li X, Conklin LS, van den Anker J, et al.
Journal of clinical pharmacology, 2020
CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model
Luan CJ, Guo W, Chen L, et al.
Acta neuropathologica communications, 2020, 8, 1, p 32
An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene
Ma Y, Zhang H, Li X, et al.
Stem cell research, 2020, 43
Janus kinase (JAK) inhibition with baricitinib in refractory juvenile dermatomyositis
Kim H, Dill S, O'Brien M, et al.
Annals of the rheumatic diseases, 2020
A potential therapeutic effect of catalpol in Duchenne muscular dystrophy revealed by binding with TAK1
Xu D, Zhao L, Jiang J, et al.
Journal of cachexia, sarcopenia and muscle, 2020
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A
Lostal W, Roudaut C, Faivre M, et al.
Science translational medicine, 2019, 11, 520
Effect of Cryopreservation on Autologous Chimeric Antigen Receptor T Cell Characteristics
Panch SR, Srivastava SK, Elavia N, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2019, 27, 7, p 1275
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family
Wang B, Li X, Huang S, et al.
Clinical genetics, 2019
A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein
Zhou N, Cui J, Zhao W, et al.
Molecular genetics & genomic medicine, 2019, 7, 3
A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4
Li X, Wang J, Liu L, et al.
Neuromuscular disorders : NMD, 2018, 28, 8, p 652
Detection of human parvovirus B19 infection in the thymus of patients with thymic hyperplasia-associated myasthenia gravis
Gong L, Li Y, Li X, et al.
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases, 2018
Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2
Bian X, Lin P, Li J, et al.
Neuro-degenerative diseases, 2018, p 74
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients
Liu L, Li X, Hu Z, et al.
Neuromuscular disorders : NMD, 2017, 27, 2, p 193
The correlation of neutrophil-to-lymphocyte ratio with the presence and activity of myasthenia gravis
Yang DH, Qian MZ, Wei MM, et al.
Oncotarget, 2017, 8, 44, p 76099
PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models
Sabha N, Volpatti JR, Gonorazky H, et al.
The Journal of clinical investigation, 2016, 126, 9, p 3613
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.
Li X, Hu Z, Liu L, et al.
Neurology, 2015, 84, 24, p. 2430-7
A large animal model of Spinal Muscular Atrophy and correction of phenotype
Duque SI, Arnold WD, Odermatt P, et al.
Annals of neurology, 2015, 77, 3, p 399
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis
Li X, Ding Y, Ma Y, et al.
European journal of medical genetics, 2015, 58, 3, p 134
Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma
Xu Y, Li X, Ge HJ, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2015, 17, 11, p 889
Spinal Muscular Atrophy biomarker measurements from blood samples in a clinical trial of valproic acid in ambulatory adults
Renusch SR, Harshman S, Pi H, et al.
Journal of Neuromuscular Diseases, 2015, 2, 2, p. 119-130
Conditional Knockout of Pik3c3 Causes a Murine Muscular Dystrophy.
Reifler A, Li X, Archambeau AJ, et al.
The American journal of pathology, 2014, 184, 6, p. 1819-30
High content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC independent pathway in myotonic dystrophy cell lines
Ketley A, Chen CZ, Li X, et al.
Human molecular genetics, 2014, 23, 6, p. 1551-1562
