Affiliation: Fudan University
Wang L, Xi J, Zhang S, Wu H, Zhou L, Lu J, et al
. Effectiveness and safety of tacrolimus therapy for myasthenia gravis: A single arm meta-analysis. J Clin Neurosci. 2019;63:160-167 pubmed publisher
..033; 95% CI, -0.64 to -0.033). Adverse events (AEs) were recorded in 258 of 633 patients (40.8%) with tacrolimus therapy while most were mild. Our meta-analysis demonstrates that tacrolimus may be a beneficial drug option to treat MG. ..
Feng X, Li W, Song J, Liu X, Gu Y, Yan C, et al
. HLA typing using next-generation sequencing for Chinese juvenile- and adult-onset myasthenia gravis patients. J Clin Neurosci. 2019;59:179-184 pubmed publisher
..Therefore, our findings suggested that HLA typing might determine the heterogeneity between AChR-Ab negative juvenile-onset and AChR-Ab positive adult-onset Chinese MG patients. ..
Yue D, Gao M, Zhu W, Luo S, Xi J, Wang B, et al
. New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. Neuromuscul Disord. 2015;25:172-6 pubmed publisher
Luo S, Sampedro Castañeda M, Matthews E, Sud R, Hanna M, Sun J, et al
. Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4. Sci Rep. 2018;8:9714 pubmed publisher
..4 variants can present with hypoPP without congenital myopathy or myasthenia and that myotonia can present even in carriers of homozygous NaV1.4 loss-of-function mutations. ..
Luo S, Zhu W, Yue D, Lin J, Wang Y, Zhu Z, et al
. Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation. Neuromuscul Disord. 2015;25:780-5 pubmed publisher
..We report a glycogenin-1 related myopathy with a distinct histopathology and unique muscle imaging pattern. ..
ZhangBao J, Zhou L, Lu J, Xi J, Zhao C, Quan C. Neuromyelitis optica accompanied by nephrotic syndrome and autoimmune-related pancytopenia. Mult Scler Relat Disord. 2016;7:8-11 pubmed publisher
ZhangBao J, Zhou L, Li X, Cai T, Lu J, Lu C, et al
. The clinical characteristics of AQP4 antibody positive NMO/SD in a large cohort of Chinese Han patients. J Neuroimmunol. 2017;302:49-55 pubmed publisher
..AQP4-ab levels were higher in patients with circulating auto-antibodies such as ANA, SSA, anti-Ro-52, anti-dsDNA, anti-histone antibody, pANCA and SSB, and positively correlated with CSF protein concentrations. ..
Luo S, Cai S, Maxwell S, Yue D, Zhu W, Qiao K, et al
. Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. Neuromuscul Disord. 2017;27:557-564 pubmed publisher
..Arg357His) most frequently found. These mutations may lead to abnormal folding of GMPPB leading to protein aggregates in the cytoplasm rather than an overall loss in protein expression. ..
Jing S, Song Y, Song J, Pang S, Quan C, Zhou L, et al
. Responsiveness to low-dose rituximab in refractory generalized myasthenia gravis. J Neuroimmunol. 2017;311:14-21 pubmed publisher
..Therefore, low dose of 600mg RTX may be sufficient in depleting B cells, maintaining low B-cell counts and improving the clinical symptoms of MG in 6months. ..