Publications

Xu WQ#, Ni W#, Wang RM, Dong Y, Wu ZY. A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients. Metab Brain Dis 2021;36:2273-2281.

Xie JJ#, Ni W#, Wei Q, Wu ZY. Spastic paraplegia as the only symptom in two adult-onset patients carrying a novel pathogenic variant in PYCR2. Eur J Neurol 2021;28:e17-e19.

Xie JJ, Ni W#, Wei Q, Ma H, Bai G, Shen Y, Wu ZY. New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies. CNS Neurosci Ther 2020;26:567-575.

Liu G#, Ni W#, Wang HX, Li   HF, Zhang Y, Wang N, Wu ZY*. Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds. J Peripher Nerv Syst 2017;22:19-26.

Chen S#, Ni W#, Yin XZ, Liu HQ, Lu C, Zheng QJ, Zhao GX, Xu YF, Wu L, Zhang L, Wang N, Li HF, Wu ZY*.  Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study. CNS Neurosci Ther 2017;23:707-716.

Ni W#, Li HF#, Zheng YC, Wu ZY*. FTL mutation in a Chinese pedigree with neuroferritinopathy. Neurol Genet 2016;2:e74.

Dong Y#, Ni W#, Chen WJ, Wan B, Zhao GX, Shi ZQ, Zhang Y, Wang N, Yu L, Xu JF, Wu ZY*. Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. Theranostics 2016;6:638-649.

Ni W#, Chen S#, Qiao K, Wang N, Wu ZY*. Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy. PLoS One 2015;10:e0122279.

Zhou Q#, Ni W#, Dong Y, Wang N, Gan SR, Wu ZY*. The role of apolipoprotein E as a risk factor for an earlier age at onset for Machado-Joseph disease is doubtful. PLoS One 2014;9:e111356.

Niu YF#, Ni W#, Wu ZY*. ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy. Gene 2013;522:117-120.

Ni W#, Dong QY#, Zhang Y, Wu ZY*. Zinc monotherapy and a low-copper diet are beneficial in patients with Wilson disease after liver transplantation. CNS Neurosci Ther 2013;19:905-907.

Gan SR#，Ni W#，Zhao GX，Wu ZY* .Clinical and molecular analyses of a Chinese spinocerebellar ataxia type 7 family that includes infantile-onset cases. Neurology Asia 2012,2(17),121-126.