Zhi ying Wu

Summary

Publications

  1. doi request reprint The discrepancy between the absence of copper deposition and the presence of neuronal damage in the brain of Atp7b(-/-) mice
    Yi Dong
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    Metallomics 7:283-8. 2015
  2. ncbi request reprint Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease
    Z Y Wu
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Rd, Fuzhou 350005, People s Republic of China
    Arch Neurol 58:971-6. 2001
  3. ncbi request reprint Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease
    Zhi ying Wu
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, People s Republic of China
    J Mol Med (Berl) 84:438-42. 2006
  4. doi request reprint Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families
    Z Y Wu
    Department of Neurology, Huashan Hospital, Institutes of Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
    Clin Genet 74:513-21. 2008
  5. ncbi request reprint FSHD in Chinese population: characteristics of translocation and genotype-phenotype correlation
    Zhi ying Wu
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, People s Republic of China
    Neurology 63:581-3. 2004
  6. ncbi request reprint Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease
    Zhi ying Wu
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, People s Republic of China
    Arch Neurol 60:737-41. 2003
  7. doi request reprint The R219K polymorphism in the ATP-binding cassette transporter 1 gene has a protective effect on atherothrombotic cerebral infarction in Chinese Han ethnic population
    Ning Wang
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China
    Neurobiol Aging 31:647-53. 2010
  8. doi request reprint The polymorphism of the ATP-binding cassette transporter 1 gene modulates Alzheimer disease risk in Chinese Han ethnic population
    Yi Min Sun
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    Am J Geriatr Psychiatry 20:603-11. 2012
  9. doi request reprint Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms
    Yi Dong
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    J Neurol Sci 324:167-71. 2013
  10. ncbi request reprint [Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene]
    Hui Xie
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China
    Zhonghua Er Ke Za Zhi 44:492-5. 2006

Collaborators

Detail Information

Publications54

  1. doi request reprint The discrepancy between the absence of copper deposition and the presence of neuronal damage in the brain of Atp7b(-/-) mice
    Yi Dong
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    Metallomics 7:283-8. 2015
    ....
  2. ncbi request reprint Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease
    Z Y Wu
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Rd, Fuzhou 350005, People s Republic of China
    Arch Neurol 58:971-6. 2001
    ..However, the spectrum of mutations and the correlation of genotype-phenotype in the Chinese population have not been extensively studied...
  3. ncbi request reprint Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease
    Zhi ying Wu
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, People s Republic of China
    J Mol Med (Berl) 84:438-42. 2006
    ..66% of normal chromosomes and 26.15% of WD chromosomes. The results have indicated that there is no correlation between MURR1 and WD in the Chinese population...
  4. doi request reprint Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families
    Z Y Wu
    Department of Neurology, Huashan Hospital, Institutes of Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
    Clin Genet 74:513-21. 2008
    ..However, it is necessary to know the genetic defects of DRD patients in clinics, which will help elucidate the mode of inheritance, facilitate causal therapy with levodopa and evaluate the prognosis...
  5. ncbi request reprint FSHD in Chinese population: characteristics of translocation and genotype-phenotype correlation
    Zhi ying Wu
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, People s Republic of China
    Neurology 63:581-3. 2004
    ..This leads to a more severe phenotype in the Chinese population comparing to EcoRI allele sizes and the intersexual difference...
  6. ncbi request reprint Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease
    Zhi ying Wu
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, People s Republic of China
    Arch Neurol 60:737-41. 2003
    ..The potential for therapy for Wilson disease (WD) emphasizes the importance of presymptomatic diagnosis in families with WD (WD families)...
  7. doi request reprint The R219K polymorphism in the ATP-binding cassette transporter 1 gene has a protective effect on atherothrombotic cerebral infarction in Chinese Han ethnic population
    Ning Wang
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China
    Neurobiol Aging 31:647-53. 2010
    ..In addition, though there is no association of V825I with ACI, this polymorphism may have certain synergistic effect with hypertension in susceptibility to ACI...
  8. doi request reprint The polymorphism of the ATP-binding cassette transporter 1 gene modulates Alzheimer disease risk in Chinese Han ethnic population
    Yi Min Sun
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    Am J Geriatr Psychiatry 20:603-11. 2012
    ..The adenosine triphosphate (ATP)-binding cassette transporter 1 (ABCA1) gene resides within proximity of linkage peaks on chromosome 9q influence AD and plays a key role in cellular cholesterol efflux in the brain...
  9. doi request reprint Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms
    Yi Dong
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    J Neurol Sci 324:167-71. 2013
    ....
  10. ncbi request reprint [Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene]
    Hui Xie
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China
    Zhonghua Er Ke Za Zhi 44:492-5. 2006
    ..To investigate the clinical characteristics and GCH I gene mutations in patients with dopa-responsive dystonia (DRD)...
  11. pmc High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia
    Shi Rui Gan
    Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, 12 Wulumuqi Zhong Road, Shanghai 200040, China
    BMC Med Genet 11:47. 2010
    ..Taq polymerase has been used for PCR in nearly all studies reported previously...
  12. doi request reprint Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification
    Wan Jin Chen
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, China Electronic address
    Gene 529:159-62. 2013
    ..Our study supports the hypothesis that SLC20A2 is a causative gene of IBGC and expands the mutation spectrum of SLC20A2, which facilitates the understanding of the genotype-phenotype correlation of IBGC...
  13. ncbi request reprint Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis
    Wan Jin Chen
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Road, Fuzhou 350 005, China
    Arch Neurol 64:225-31. 2007
    ..The difficulties and incurability of spinal muscular atrophy (SMA) highlight the importance of prenatal diagnosis in families with SMA. However, the system applied in prenatal screening is far from perfect...
  14. ncbi request reprint [Genotype-phenotype correlation of patients with wilson disease in Chinese population]
    Zhi ying Wu
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005 China
    Zhonghua Yi Xue Za Zhi 83:309-11. 2003
    ..To investigate the correlation between genotype and phenotype of patients with Wilson disease (WD) in the Chinese population...
  15. doi request reprint PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia
    Hong fu Li
    Department of Neurology, Huashan Hospital, Institutes of Brain Science, Shanghai Medical College, Fudan University, China
    CNS Neurosci Ther 19:61-5. 2013
    ..This might be attributed to the incomplete penetrance of c.649dupC. Alternatively, c.649dupC might derive from de novo. The aim of this study is to elucidate the possibility concerning de novo mutagenesis of PRRT2 mutations in PKD...
  16. doi request reprint A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis
    Zhen Hua Zhao
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Centre of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou, China
    Amyotroph Lateral Scler 10:118-22. 2009
    ..This study has broadened the mutation spectrum of senataxin and expanded the clinical phenotypes of senataxin mutations...
  17. ncbi request reprint [Study on EcoR I fragment polymorphism of the subtelomeric domains within 4q35 and 10q26 with pulsed field gel electrophoresis in the Chinese population]
    Zhi ying Wu
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, 350005 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21:552-6. 2004
    ....
  18. ncbi request reprint [Characteristics of gene structure in facioscapulohumeral muscular dystrophy-related 4q35 subtelomere and genotype-phenotype correlation in Chinese Han population]
    Zhi Qiang Wang
    Department of Neurology, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China
    Zhonghua Yi Xue Za Zhi 89:304-9. 2009
    ....
  19. ncbi request reprint [Analysis of alleles 4qA and 4qB of the chromosome 4q subtelomere in Chinese Han population]
    Zhong jie Chen
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, 350005 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:334-7. 2007
    ..To analyze two alleles (4qA and 4qB) distal to D4Z4 of the 4q subtelomere in Chinese population, and to elucidate the interrelationship between these variants of 4qter and facioscapulohumeral muscular dystrophy (FSHD)...
  20. pmc Association between Ngb polymorphisms and ischemic stroke in the Southern Chinese Han population
    Yi Lin
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, PR China
    BMC Med Genet 9:110. 2008
    ..For it is one of the candidate protective factors for ischemic stroke, we conducted a case-control study to clarify the association of Ngb polymorphisms with ischemic stroke in the Southern Chinese Han population...
  21. ncbi request reprint [Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis]
    Yan Fang Niu
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China
    Yi Chuan 33:720-4. 2011
    ..In conclusion, this study extends the spectrum of SOD1 mutations in the Chinese FALS patients and facilitates to investigate characteristics and distribution of SOD1 mutations in the Chinese population...
  22. doi request reprint Common variants at Bin1 are associated with sporadic Alzheimer's disease in the Han Chinese population
    Hong Lei Li
    aDepartment of Neurology and Institute of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou bDepartment of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai cDepartment of Neurology, General Hospital of Ningxia Medical University, Ningxia, China
    Psychiatr Genet 25:21-5. 2015
    ..To clarify the relevance of Bin1 as a genetic determinant of AD, we analyzed its association in a Han Chinese population from the South East part of mainland China...
  23. ncbi request reprint [Mechanism of translocation between chromosomes 4q and 10q in facioscapulohumeral muscular dystrophy]
    Ning Wang
    Department of Neurology, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China
    Zhonghua Yi Xue Za Zhi 83:650-3. 2003
    ..To investigate the translocation between chromosomes 4q and 10q and its putative correlation with facioscapulohumeral muscular dystrophy (FSHD)...
  24. ncbi request reprint Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy
    Wan Jin Chen
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:559-602. 2005
    ....
  25. doi request reprint Novel mutation in the ABCA1 gene identified in a chinese patient with dementia and atherothrombotic cerebral infarction
    Xie Hua Xue
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, Fuzhou, China
    Dement Geriatr Cogn Disord 26:234-8. 2008
    ..To date, 81 mutations of ATP-binding cassette transporter 1 (ABCA1) have been reported. However, no ABCA1 mutation has been reported in the Chinese population...
  26. pmc Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population
    Zhi Qiang Wang
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, Fuzhou, China
    Eur J Hum Genet 19:64-9. 2011
    ..This analysis should be accompanied by 4qA/4qB variant determination and integrated chromosome assignments, especially in patients with obscure and unclassified myopathies similar to atypical forms of FSHD...
  27. pmc Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis
    Wan Jin Chen
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, PR China
    BMC Med Genet 10:45. 2009
    ..Recently, high-resolution DNA melting analysis (HRMA) with saturation LC Green dyes has become a powerful post-PCR technique for genotyping or mutation scanning. So far, no studies have applied HRMA to the molecular analysis of SMA...
  28. doi request reprint Intermediate-length polyglutamine in ATXN2 is a possible risk factor among Eastern Chinese patients with amyotrophic lateral sclerosis
    Hai Peng Lu
    Department of Neurology and Institute of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China Department of Neurology, Jinhua Hospital, Zhejiang University, Jinhua, China
    Neurobiol Aging 36:1603.e11-4. 2015
    ..0. We found that ATXN2 intermediate-length polyglutamine expansions greater than 24 and 27 repeats were associated with sporadic ALS. Our finding supports the hypothesis that ATXN2 plays an important role in the pathogenesis of ALS. ..
  29. doi request reprint Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system
    Zhi jun Liu
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    Neurobiol Aging 35:2881.e11-5. 2014
    ..The high throughput and efficiency of this approach indicated that it could be applied to diagnose ALS and other inherited diseases with multiple causative genes in clinical practice. ..
  30. pmc Associations between apolipoprotein E genotypes and serum levels of glucose, cholesterol, and triglycerides in a cognitively normal aging Han Chinese population
    Qing Qing Tao
    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, People s Republic of China
    Clin Interv Aging 9:1063-7. 2014
    ..To determine the associations between apolipoprotein E (APOE) genotypes and serum levels of glucose, total cholesterol, and triglycerides in a cognitively normal aging Han Chinese population...
  31. doi request reprint Lack of association between CALHM1 p.P86L variation and Alzheimer's disease in the Han Chinese population
    Qing Qing Tao
    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China
    Neurobiol Aging 35:1956.e13-4. 2014
    ..Our study suggests that CALHM1 p.P86L variation may not be an AD susceptibility factor in the Han Chinese population. ..
  32. doi request reprint The LRRK2 R1628P variant plays a protective role in Han Chinese population with Alzheimer's disease
    Hong Lei Li
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    CNS Neurosci Ther 19:207-15. 2013
    ..The aim of this study was to investigate two Asian-specific LRRK2 variants, R1628P and G2385R, with the association of Han Chinese SAD...
  33. pmc Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis
    Hui Ling Xiong
    Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, 12 Wulumuqi Zhong Road, Shanghai 200040, PR China
    BMC Med Genet 11:8. 2010
    ..TARDBP mutations have been reported in patients with amyotrophic lateral sclerosis (ALS) in different populations except Chinese. The present aim is to investigate the association between TARDBP mutations and Chinese patients with ALS...
  34. doi request reprint TAT-mediated delivery of neuroglobin protects against focal cerebral ischemia in mice
    Bin Cai
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China
    Exp Neurol 227:224-31. 2011
    ..05). Our results demonstrated that the exogenous Ngb fusion protein containing the TAT protein transduction domain could be efficiently transduced into neurons in the mouse and protect the brain from mild or moderate ischemic injury...
  35. doi request reprint Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
    Wan Jin Chen
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, China
    Nat Genet 43:1252-5. 2011
    ..The function of PRRT2 and its role in paroxysmal kinesigenic dyskinesia should be further investigated...
  36. doi request reprint Clusterin variants are not associated with southern Chinese patients with Alzheimer's disease
    Shen Ji Lu
    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    Neurobiol Aging 35:2656.e9-11. 2014
    ..No positive association was found between the CLU variants and AD. Our study suggests that CLU variants may not be an AD susceptibility factor in southern Chinese Han population. ..
  37. doi request reprint ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy
    Yan Fang Niu
    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China
    Gene 522:117-20. 2013
    ..The retrospective study further confirmed the hypothesis that exon 6 is a potential mutation cluster region in the Asian populations. Furthermore, it suggested that CCALD is the most common phenotype in China...
  38. doi request reprint 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
    Zhi Qiang Wang
    Department of Neurology, Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, China
    J Mol Med (Berl) 89:569-76. 2011
    ..ETFDH deficiency is a major cause of riboflavin-responsive MADD in southern China, and c.250G>A is an important mutation that could be employed as a fast and reliable screening method...
  39. doi request reprint Genotype-phenotype correlation in chinese patients with spinal and bulbar muscular atrophy
    Wang Ni
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China
    PLoS ONE 10:e0122279. 2015
    ..A significant decline in sensory nerve action potential amplitudes may assist differential diagnosis of SBMA. ..
  40. doi request reprint Variants of CYP27B1 are associated with both multiple sclerosis and neuromyelitis optica patients in Han Chinese population
    Jing Cong Zhuang
    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China
    Gene 557:236-9. 2015
    ..The reported rare mutation p.R389H (rs118204009) was not found in our study. In conclusion, our study suggested that variants of CYP27B1 were associated with both MS and NMO patients in Han Chinese population...
  41. doi request reprint PICALM and CR1 variants are not associated with sporadic Alzheimer's disease in Chinese patients
    Hong Lei Li
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    J Alzheimers Dis 25:111-7. 2011
    ..Thus, the association between SNPs within PICALM, CR1, and SAD should be studied further in different ethnic groups...
  42. doi request reprint EGFP tags affect cellular localization of ATP7B mutants
    Min Zhu
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    CNS Neurosci Ther 19:346-51. 2013
    ..Enhanced green fluorescent protein (EGFP) tags are commonly used in in vitro studies of cellular localization of ATP7B mutants. However, there is still much unknown about cellular localization of ATP7B truncations...
  43. pmc The role of apolipoprotein e as a risk factor for an earlier age at onset for machado-joseph disease is doubtful
    Qi Zhou
    Department of Neurology and Institute of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, China
    PLoS ONE 9:e111356. 2014
    ..Additionally, our study presents evidence that the normal ATXN3 allele and its interaction with mutant alleles contribute toward AAO variance in MJD patients. ..
  44. doi request reprint Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population
    Gui xian Zhao
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institute of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, 200040, China
    Neurosci Bull 29:525-30. 2013
    ..Results suggest that the CYP7A1 allele was associated with NMO. NMO and MS have different genetic risk factors. This further supports the emerging evidence that MS and NMO are distinct disorders. ..
  45. doi request reprint A variant within FGF1 is associated with Alzheimer's disease in the Han Chinese population
    Qing Qing Tao
    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China
    Am J Med Genet B Neuropsychiatr Genet 165:131-6. 2014
    ..005, OR: 4.201, 95%CI: 1.539-11.472), suggesting the rs34011 has a synergetic effect of APOE on AD risk. However, no association was observed between rs3765728 and AD in the Han Chinese population (χ(2) = 0.431, df = 2, P = 0.806)...
  46. doi request reprint CCG polymorphisms in the huntingtin gene have no effect on the pathogenesis of patients with Huntington's disease in mainland Chinese families
    Bao Rong Zhang
    Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310009, China
    J Neurol Sci 312:92-6. 2012
    ..Given these findings, it was quite reasonable to suppose that the CCG polymorphism may not influence the pathogenesis of patients with HD in mainland China...
  47. ncbi request reprint [Determination of trace elements in cigarette flavours by closed-vessel microwave digestion-inductively coupled plasma mass spectrometry]
    Li Li
    Technology Research and Development Center, China Tobacco Chuanyu Industrial Corporation, Chengdu 610066, China
    Guang Pu Xue Yu Guang Pu Fen Xi 30:3413-6. 2010
    ..2) The content difference of Mn, Cd and Sr in different cigarette flavours is usually bigger, the coefficients of variation of which are 276.4%, 238.7% and 243.8%, respectively...
  48. doi request reprint Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations
    Hong fu Li
    Department of Neurology and Institute of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, China
    Neurosci Bull 30:1010-6. 2014
    ..Our results also indicate that both the PRRT2 and CLCN1 genes need to be screened if we fail to identify PRRT2 mutations in PKD patients or CLCN1 mutations in MC patients. ..
  49. doi request reprint A common GSAP promoter variant contributes to Alzheimer's disease liability
    Min Zhu
    Institutes of Brain Science, Fudan University, Shanghai, China Department of Cellular and Genetic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, China School of Biological Sciences, Fudan University, Shanghai, China
    Neurobiol Aging 35:2656.e1-7. 2014
    ..We also determined that rs4727380 correlates with AD diagnosis primarily among APOE4 noncarriers. To our knowledge, this is the first report providing genetic evidence linking GSAP to AD liability. ..
  50. doi request reprint No association between identified multiple sclerosis non-MHC risk loci and neuromyelitis optica
    Qi Bing Liu
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, 200040, China
    Neurosci Bull 30:1036-44. 2014
    ..Our results showed no association between these identified non-MHC MS risk loci and NMO, suggesting there are genetic differences in the etiology of NMO and MS. ..
  51. doi request reprint Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12
    Yi Dong
    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China
    Parkinsonism Relat Disord 21:398-401. 2015
    ..It is a very rare disorder and only identified in certain countries so far. The current appreciation for phenotypic and genotypic features of SCA12 is still limited...
  52. doi request reprint Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population
    Ping Ping Cai
    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China
    Autoimmunity 47:563-6. 2014
    ..These results indicated that ATG5 variants are associated with NMO but not MS patients, which may provide a clue for further clarifying the autoimmune mechanisms of autophagy-related pathogenesis in NMO. ..
  53. doi request reprint The importance of deep exploration into clinical heterogeneity of spinocerebellar ataxia type 3
    Yi Dong
    Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
    J Neurol Sci 326:122. 2013
    ..The full understanding of rare representations in SCA3 facilitates the timely diagnosis of patients. Moreover, the detections of the certain modifier genes make for the new insights into the clinical spectrum of SCA3...
  54. doi request reprint Value of muscle enzyme measurement in evaluating different neuromuscular diseases
    Yue Zhang
    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China
    Clin Chim Acta 413:520-4. 2012
    ..However literatures that described and compared the muscle enzyme levels among these diseases are few. We described their changes in a group of Chinese patients...