Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency J Xi, B Wen, J Lin, W Zhu, S Luo, C Zhao, D Li, P Lin, J Lu, C Yan Journal of inherited metabolic disease 37, 399-404, 2014 | 95 | 2014 |
5′ UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy J Xi, X Wang, D Yue, T Dou, Q Wu, J Lu, Y Liu, W Yu, K Qiao, J Lin, S Luo, ... Brain 144 (2), 601-614, 2021 | 52 | 2021 |
Propagated α-synucleinopathy recapitulates REM sleep behaviour disorder followed by parkinsonian phenotypes in mice Y Shen, WB Yu, B Shen, H Dong, J Zhao, YL Tang, Y Fan, YF Yang, ... Brain 143 (11), 3374-3392, 2020 | 52 | 2020 |
Genotype–phenotype correlations in recessive titinopathies M Savarese, A Vihola, EC Oates, R Barresi, C Fiorillo, G Tasca, M Jokela, ... Genetics in Medicine 22 (12), 2029-2040, 2020 | 44 | 2020 |
HLA in myasthenia gravis: From superficial correlation to underlying mechanism H Zhong, C Zhao, S Luo Autoimmunity reviews 18 (9), 102349, 2019 | 36 | 2019 |
Identification of LAMP2 mutations in early-onset Danon disease with hypertrophic cardiomyopathy by targeted next-generation sequencing L Fu, S Luo, S Cai, W Hong, Y Guo, J Wu, T Liu, C Zhao, F Li, H Huang, ... The American journal of cardiology 118 (6), 888-894, 2016 | 35 | 2016 |
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome S Luo, S Cai, S Maxwell, D Yue, W Zhu, K Qiao, Z Zhu, L Zhou, J Xi, J Lu, ... Neuromuscular Disorders 27 (6), 557-564, 2017 | 34 | 2017 |
HLA-DQA1* 03: 02/DQB1* 03: 03: 02 is strongly associated with susceptibility to childhood-onset ocular myasthenia gravis in Southern Han Chinese WH Zhu, JH Lu, J Lin, JY Xi, J Lu, SS Luo, K Qiao, BG Xiao, CZ Lu, ... Journal of neuroimmunology 247 (1-2), 81-85, 2012 | 33 | 2012 |
Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation S Luo, W Zhu, D Yue, J Lin, Y Wang, Z Zhu, W Qiu, J Lu, ... Neuromuscular Disorders 25 (10), 780-785, 2015 | 32 | 2015 |
Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS J Lin, CB Zhao, JH Lu, HJ Wang, WH Zhu, JY Xi, J Lu, SS Luo, D Ma, ... Mitochondrial DNA 25 (1), 56-62, 2014 | 32 | 2014 |
Effect of low-dose rituximab treatment on T-and B-cell lymphocyte imbalance in refractory myasthenia gravis S Jing, J Lu, J Song, S Luo, L Zhou, C Quan, J Xi, C Zhao Journal of Neuroimmunology 332, 216-223, 2019 | 31 | 2019 |
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy J Xi, G Blandin, J Lu, S Luo, W Zhu, C Beroud, C Pecheux, V Labelle, ... Neurology India 62 (6), 635-639, 2014 | 30 | 2014 |
Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb‐girdle muscular dystrophy type 2A by muscle magnetic resonance imaging X Feng, S Luo, J Li, D Yue, J Xi, W Zhu, X Gao, X Guan, J Lu, Z Liang, ... Muscle & Nerve 58 (4), 536-541, 2018 | 29 | 2018 |
Lactic acidosis during telbivudine treatment for HBV: a case report and literature review JL Jin, P Hu, JH Lu, SS Luo, XY Huang, XH Weng, JM Zhang World journal of gastroenterology: WJG 19 (33), 5575, 2013 | 29 | 2013 |
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study M Schiava, C Ikenaga, RN Villar-Quiles, M Caballero-Ávila, A Topf, ... Journal of Neurology, Neurosurgery & Psychiatry 93 (10), 1099-1111, 2022 | 26 | 2022 |
Inhibition of ROCK activity regulates the balance of Th1, Th17 and Treg cells in myasthenia gravis J Song, JY Xi, WB Yu, C Yan, SS Luo, L Zhou, WH Zhu, JH Lu, Q Dong, ... Clinical Immunology 203, 142-153, 2019 | 24 | 2019 |
Odor identification test in idiopathic REM-behavior disorder and Parkinson's disease in China SF Huang, K Chen, JJ Wu, FT Liu, J Zhao, W Lin, SS Guo, YX Wang, ... PLoS One 11 (8), e0160199, 2016 | 24 | 2016 |
GNE myopathy in Chinese population: hotspot and novel mutations Y Chen, J Xi, W Zhu, J Lin, S Luo, D Yue, S Cai, C Sun, C Zhao, ... Journal of human genetics 64 (1), 11-16, 2019 | 23 | 2019 |
Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4 S Luo, M Sampedro Castañeda, E Matthews, R Sud, MG Hanna, J Sun, ... Scientific reports 8 (1), 9714, 2018 | 23 | 2018 |
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure D Yue, M Gao, W Zhu, S Luo, J Xi, B Wang, Y Li, S Cai, J Li, Y Wang, J Lu, ... Neuromuscular Disorders 25 (2), 172-176, 2015 | 23 | 2015 |