Publications

Xu WQ, Wang RM, Dong Y, Wu ZY*. Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease. J Mol Diagn. 2022. Epub ahead of print.

Tao QQ, Lin RR, Chen YH, Wu ZY*. Discerning the Role of Blood Brain Barrier Dysfunction in Alzheimer's Disease. Aging Dis. 2022;13(5):1391-1404.

Xie JJ, Li XY, Dong Y, Chen C, Qu BY, Wang S, Xu H, Roe AW, Lai HY, Wu ZY*. Local and Global Abnormalities in Pre-symptomatic Huntington's Disease Revealed by 7T Resting-state Functional MRI. Neurosci Bull. 2022. Epub ahead of print.

Ni W, Zhang Y, Zhang L, Xie JJ, Li HF, Wu ZY*. Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations. CNS Neurosci Ther. 2022;28(11):1779-1789.

Wang RM, Xu WQ, Zheng ZW, Yang GM, Zhang MY, Ke HZ, Xia N, Dong Y, Wu ZY*. Serum Neurofilament Light Chain in Wilson's Disease: A Promising Indicator but Unparallel to Real-Time Treatment Response. Mov Disord. 2022;37(7):1531-1535.

Lin RR, Tao QQ, Wu ZY*. Early-Onset Parkinson's Disease and Brain Iron Accumulation Caused by a Novel Homozygous DJ-1 Mutation. J Parkinsons Dis. 2022;12(3):813-819.

Chen YL, Chen DF, Li HF, Wu ZY*. Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants. Mov Disord. 2022;37(3):608-613.

Xu WQ, Wang RM, Dong Y, Wu ZY*. Emerging neurological symptoms after liver transplantation: A 6-year follow-up of an adolescent patient with Wilson's disease. CNS Neurosci Ther. 2022;28(5):788-791.

Wei Q, Luo WJ, Yu H, Wang PS, Dong HL, Li HF, Wu ZY*. A novel PCYT2 mutation identified in a Chinese consanguineous family with hereditary spastic paraplegia. J Genet Genomics. 2021;48(8):751-754.

Chen Y, Chen D, Zhao S, Liu G, Li H, Wu ZY*. Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions. Front Med. 2021;5(6):877-886.

Dong Y, Wu ZY*. Challenges and suggestions for precise diagnosis and treatment of Wilson's disease. World J Pediatr. 2021;17(6):561-565.

Yang L, Shao YR, Li XY, Ma Y, Dong Y, Wu ZY*. Association of the Level of Neurofilament Light With Disease Severity in Patients With Spinocerebellar Ataxia Type 2. Neurology. 2021;97(24):e2404-e2413.

Cheng HL, Shao YR, Dong Y, Dong HL, Yang L, Ma Y, Shen Y, Wu ZY*. Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias. Transl Neurodegener. 2021;10(1):40.

Li XY, Gao B, Xie JJ, Bao YF, Dong Y, Wu ZY*. The clinical, imaging and biological features of psychosis in Han Chinese patients with Huntington's disease. J Psychiatr Res. 2021;141:333-338..

Li HF, Chen YL, Zhuang L, Chen DF, Ke HZ, Luo WJ, Liu GL, Wu SN, Zhou WH, Xiong ZQ, Wu ZY*. TMEM151A variants cause paroxysmal kinesigenic dyskinesia. Cell Discov. 2021;7(1):83.

Lin RR, Xue YY, Li XY, Chen YH, Tao QQ, Wu ZY*. Optimal Combinations of AT(N) Biomarkers to Determine Longitudinal Cognition in the Alzheimer's Disease. Front Aging Neurosci. 2021;13:718959.

Wei Q, Luo WJ, Yu H, Wang PS, Dong HL, Li HF, Wu ZY*. A novel PCYT2 mutation identified in a Chinese consanguineous family with hereditary spastic paraplegia. J Genet Genomics. 2021;48(8):751-754.

Chen L, Chen DF, Dong HL, Liu GL, Wu ZY*. A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores. CNS Neurosci Ther. 2021;27(10):1198-1205.

Dong HL, Ma Y, Yu H, Wei Q, Li JQ, Liu GL, Li HF, Chen L, Chen DF, Bai G, Wu ZY*. Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy. Brain. 2021;144(8):2457-2470.

Dong HL, Chen L, Wu ZY*. A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family. Brain. 2021;144(1):e11.

Dong HL, Li JQ, Liu GL, Yu H, Wu ZY*. Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy. NPJ Genom Med. 2021;6(1):1.

Yang L, Dong Y, Ma Y, Ni W, Wu ZY*. Genetic profile and clinical characteristics of Chinese patients with spinocerebellar ataxia type 2: A multicenter experience over 10 years. Eur J Neurol. 2021;28(3):955-964.

Dong Y, Wang RM, Yang GM, Yu H, Xu WQ, Xie JJ, Zhang Y, Chen YC, Ni W, Wu ZY*. Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson's Disease. Clin Gastroenterol Hepatol. 2021;19(3):590-596..

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(2):e17-e19.

Chen CX, Li JQ, Dong HL, Liu GL, Bai G, Wu ZY*. Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease. Ann Clin Transl Neurol. 2020, 7(12):2381-2392.

Wang RM, Yu H, Yang GM, Xu WQ, Xia N, Zhang Y, Ni W, Dong Y, Wu ZY*. Clinical features and outcome of Wilson's disease with generalized epilepsy in Chinese patients. CNS Neurosci Ther. 2020;26(8):842-850..

Dong HL, Wei Q, Li JQ, Li HF, Bai G, Ma H, Wu ZY*. Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2020, 5(2):107-111.

Dong HL, Cheng HL, Bai G, Shen Y, Wu ZY*. Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. Brain. 2020;143(6):e50.

Zhao SY, Li LX, Chen YL, Chen YJ, Liu GL, Dong HL, Chen DF, Li HF, Wu ZY*. Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders. CNS Neurosci Ther. 2020;26(1):39-46.

Li XY, Li HL, Dong Y, Gao B, Cheng HR, Ni W, Gan SR, Liu ZJ, Burgunder JM, Wu ZY*. Haplotype analysis encompassing HTT gene in Chinese patients with Huntington's disease. Eur J Neurol. 2020;27(2):273-279.

Cheng HR, Li XY, Yu HL, Xu M, Zhang YB, Gan SR, Li HL, Wu ZY*. Correlation Between CCG Polymorphisms and CAG Repeats During Germline Transmission in Chinese Patients with Huntington's Disease. Neurosci Bull. 202036(7):811-814.

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(5):567-575.

Li JQ#, Dong HL#, Chen CX, Wu ZY*. A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family. Brain 2019; 142: 1-4(e49).

Li QF, Dong Y, Yang L, Xie JJ, Ma Y, Du YC, Cheng HL, Ni W, Wu ZY*. Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3. Mol Neurodegener. 2019 Nov 4;14(1):39. 

Wei Q#, Dong HL#, Pan LY#, Chen CX, Yan YT, Wang RM, Li HF, Liu ZJ, Tao QQ*, Wu ZY*. Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia. Transl Neurodegener. 2019, 8:19. 

Liu ZJ#, Lin HX#, Wei Q#, Zhang QJ#, Chen CX, Tao QQ, Liu GL, Ni W, Gitler AD, Li HF*, Wu ZY*. Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis. Aging Dis 2019; 10(6):1199-1206.

Li HL#, Li XY#, Dong Y#, Zhang YB, Cheng HR, Gan SR, Liu ZJ, Ni W, Burgunder JM, Yang XW, Wu ZY*. Clinical and genetic profiles in Chinese patients with Huntington’s disease: a ten-year multicenter study in China. Aging Dis 2019;10(5):1003-1011.

Tao QQ, Chen YC, Wu ZY*. The role of CD2AP in the Pathogenesis of Alzheimer's Disease. Aging Dis 2019;10(4): 901-907.

Liu ZR#, Dong HL#, Ma Y, Wu ZY*. Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency. Mitochondrion 2019; 49:200-205. 

Lin HX#, Tao QQ#, Wei Q, Chen CX, Chen YC, Li HF, Gitler AD, Wu ZY*. Identification and functional analysis of novel mutations in the SOD1 gene in Chinese patients with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 2019; 20: 222-228. 

Li XY#, Zhang YB#, Xu M#, Cheng HR, Dong Y, Ni W, Li HL*,Wu ZY*. Effect of apolipoprotein E genotypes on Huntington's disease phenotypes in a Han Chinese population. Neurosci Bull 2019, 35(4): 756-762.

Chen YC#, Yu H#, Wang RM#, Xie JJ, Ni W, Zhang Y, Dong Y*, Wu ZY*. Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions. Parkinsonism Relat Disord 2019; 62:128-133.

Jiang B#, Zhou J#, Li HL#, Chen YG#, Cheng HR, Ye LQ, Liu DS, Chen DF, Tao QQ*, Wu ZY*. Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing. Neurobiol Aging 2019; 76: 215.e15-215.e21.

Dong HL, Ma Y, Li QF, Du YC, Yang L, Chen S, Wu ZY*. Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing. CNS Neurosci Ther 2019; 25: 21-29.

Shi Y, Wang R, Yuan W, Liu Q, Shi M, Feng W, Wu Z, Hu K,* Fuyou Li*. Easy-to-use colorimetric cyanine probe for the detection of Cu2+ in Wilson's disease. ACS Appl Mater Interfaces, 2018, 10: 20377-20386.

Lu C, Li LX, Dong HL, Wei Q, Liu ZJ, Ni W, Gitler AD, Wu ZY*. Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. J Mol Med, 2018, 96: 701-712. 

Chen YJ, Dong HL, Li LX, Ni W, Li HF*, Wu ZY*. Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration. Parkinson Relat Disord, 2018, 49:88-94.

Li LX, Liu GL, Liu ZJ, Lu C, Wu ZY*. Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D (CMT4D). Hum Mutat, 2017, 38(11): 1569-1578.

Li HF, Liu ZJ, Dong HL, Xie JJ, Zhao SY, Ni W, Dong Y, Wu ZY*. Clinical features of Chinese patients with Gerstmann-Sträussler-Scheinker identified by targeted next-generation sequencing. Neurobiol Aging, 2017, 49: 216.e1-e5

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 multi-center retrospective study. CNS Neurosci Ther, 2017, 23(9): 707-716.

Liu ZJ, Lin HX, Liu GL, Tai QQ, Ni W, Xiao BG, Wu ZY*. The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis. Clin Genet, 2017, 92(3): 267-273.

Dong Y, Ni W, Chen WJ, Wan B, Zhao GX, Shi Z, Zhang Y, Wang N, Yu L, Xu J, 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(5): 638-649.

Su P, Chen S, Zheng YH, Zhou HY, Yan CH, Yu F, Zhang YG, He L, Zhang Y, Wang Y, Wu L, Wu X, Yu B, Ma LY, Yang Z, Wang J, Zhao G, Zhu J*, Wu ZY*, Sun B*. Novel function of extracellular matrix protein 1 in suppressing Th17 cell development in experimental autoimmune encephalomyelitis. J Immunol, 2016, 197(4): 1054-1064. 

Yao Y, Cui X, Al-Ramahi I, Sun X, Li B, Hou J, Difiglia M, Palacino J, Wu ZY*, Ma L*, Botas J*, Lu B*. A striatal-enriched intronic GPCR modulates huntingtin levels and toxicity. Elife, 2015; 4: e05449. 

Lu HP, Gan SR, Chen S, Li HF, Liu ZJ, Ni W, Wang N, Wu ZY*. Intermediate-length polyglutamine in ATXN2 is a possible risk factor among Eastern Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging, 2015, 36(3): 1603.e11-14.

Liu ZJ, Li HF, Tan GH, Tao QQ, Ni W, Cheng XW, Xiong ZQ, Wu ZY*. Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. Neurobiol Aging, 2014, 35(12): 2881.e11-15.

Li HF, Chen WJ, Ni W, Wang KY, Liu GL, Wang N, Xiong ZQ, Xu J, Wu ZY*. PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response. Neurology, 2013, 80(16):1534-1535. 

Chen WJ, Lin Yu, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Yi, Murong SX, Xu J, Wang N*, Wu ZY*. Exome sequencing identifies truncating mutations in the PRRT2 gene that cause paroxysmal kinesigenic dyskinesia. Nature Genetics, 2011, 43(12): 1252-1255. 

Wang ZQ, Chen XJ, Murong SX, Wang N, Wu ZY*. Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A. J Mol Med, 2011, 89(6): 569-576.

Wang N, Xue XH, Lin Y, Fang L, Murong SX, Wu ZY*. The R219K polymorphism in the ATP-binding cassette transporter 1 gene has a protective effect on atherothrombotic cerebral infarction in Chinese Han ethnic population. Neurobiol Aging, 2010, 31(4): 647-653.

Gan SR, Zhao K, Wu ZY*, Wang N, Murong SX. Chinese patients with Machado-Joseph disease presenting with complicated hereditary spastic paraplegia. Eur J Neurol, 2009, 16(8):953-956.

Zhao ZH, Chen WZ, Wu ZY*, Wang N, Zhao GX, Chen WJ, Murong SX. A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Sc, 2009, 10(2): 118-122.

Wu ZY*, Wang ZQ, Murong SX, Wang N. FSHD in Chinese population: Characteristics of translocation and genotype-phenotype correlation. Neurology, 2004, 63(3): 581-583. 

Wu ZY*, Lin MT, Murong SX, Wang N. Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease. Arch Neurol, 2003, 60(5): 737-741. 

Wu ZY*, Wang N, Lin MT, Fang L, Murong SX. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease. Arch Neurol, 2001, 58 (6): 971-976.