Hong Jiang

Summary

Country: China

Publications

  1. ncbi [Spinal muscular atrophy mimicking myotonic dystrophy: a case report and clinical, pathological and genetic analysis]
    Li Xia Luo
    Department of Neurology, Central South University, Changsha, Hunan, People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29:455-8. 2012
  2. ncbi [Clinical and pathologic analysis of an autosomal recessive kindred with nemaline myopathy]
    Hong Jiang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhonghua Yi Xue Za Zhi 89:3316-9. 2009
  3. ncbi A rare Von Hippel-Lindau disease that mimics acute myelitis: case report and review of the literature
    Hong Jiang
    Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, People s Republic of China
    Neurol Sci 32:305-7. 2011
  4. ncbi [Histone deacetylase inhibitors as therapeutic agents for polyglutamine disorders]
    Hong Jiang
    Department of Neurology, Xiangya Hospital Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:52-5. 2010
  5. ncbi [Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism]
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:641-3. 2005
  6. ncbi Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1
    Juan Du
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
    Clin Neurol Neurosurg 113:480-2. 2011
  7. ncbi Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: genetic, clinical, and positron emission tomography findings
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    Mov Disord 24:2007-11. 2009
  8. ncbi A spinocerebellar ataxia family with expanded alleles in the TATA-binding protein gene and ataxin-3 gene
    Qian Xu
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
    Int J Neurosci 120:159-61. 2010
  9. ncbi Case-control study of the UCH-L1 S18Y variant in sporadic Parkinson's disease in the Chinese population
    Lei Wang
    Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, China
    J Clin Neurosci 18:541-4. 2011
  10. ncbi Spinocerebellar ataxia type 11 in the Chinese Han population
    Qian Xu
    Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, China
    Neurol Sci 31:107-9. 2010

Collaborators

Detail Information

Publications92

  1. ncbi [Spinal muscular atrophy mimicking myotonic dystrophy: a case report and clinical, pathological and genetic analysis]
    Li Xia Luo
    Department of Neurology, Central South University, Changsha, Hunan, People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29:455-8. 2012
    ..To investigate a patient featuring a complex neuromuscular disease phenotype...
  2. ncbi [Clinical and pathologic analysis of an autosomal recessive kindred with nemaline myopathy]
    Hong Jiang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhonghua Yi Xue Za Zhi 89:3316-9. 2009
    ..To investigate the clinical, pathological and ultrastructural features of nemaline myopathy (NM)...
  3. ncbi A rare Von Hippel-Lindau disease that mimics acute myelitis: case report and review of the literature
    Hong Jiang
    Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, People s Republic of China
    Neurol Sci 32:305-7. 2011
    ..This study further confirmed that VHL is of highly clinical, imaging, and pathological heterogeneity. Diagnosis for VHL should be based on combination of clinical, radiological, pathological, and genetic data...
  4. ncbi [Histone deacetylase inhibitors as therapeutic agents for polyglutamine disorders]
    Hong Jiang
    Department of Neurology, Xiangya Hospital Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:52-5. 2010
    ....
  5. ncbi [Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism]
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:641-3. 2005
    ..To investigate the mutation characteristics of DJ1 gene in Chinese patients with autosomal recessive early-onset Parkinsonism (AR-EP)...
  6. ncbi Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1
    Juan Du
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
    Clin Neurol Neurosurg 113:480-2. 2011
    ..Hereditary spastic paraplegia type 6 (SPG6) is caused by mutations in the NIPA1 gene, this is a rare cause of HSP, until now, all the affected individuals reported displayed "pure" spastic paraplegia...
  7. ncbi Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: genetic, clinical, and positron emission tomography findings
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    Mov Disord 24:2007-11. 2009
    ..8%) in the MJD1 locus. [(11)C]-CFT PET in detected members in SCA2 and SCA3/MJD families showed decrements of (11)C-CFT uptake. These findings suggest that a mutation in SCA2 or SCA3/MJD may be one of the genetic causes of PD...
  8. ncbi A spinocerebellar ataxia family with expanded alleles in the TATA-binding protein gene and ataxin-3 gene
    Qian Xu
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
    Int J Neurosci 120:159-61. 2010
    ..The study also provides us a novel conception that mutations from two pathogenetic genes may coexist in one patient and SCA-affected patients with intermediate allele need to be further excluded for other SCA subtypes...
  9. ncbi Case-control study of the UCH-L1 S18Y variant in sporadic Parkinson's disease in the Chinese population
    Lei Wang
    Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, China
    J Clin Neurosci 18:541-4. 2011
    ....
  10. ncbi Spinocerebellar ataxia type 11 in the Chinese Han population
    Qian Xu
    Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, China
    Neurol Sci 31:107-9. 2010
    ..All analyzed samples displayed the normal elution profile, which denoted that no disease-related mutation was identified. We provided the evidence that SCA11 is a rare form of ataxia in China...
  11. ncbi TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province 410008, China
    Brain 133:3510-8. 2010
    ....
  12. ncbi [Detection of the CAG trinucleotide repeats of MJD1 gene by recombinant DNA technology]
    Shen Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26:406-9. 2009
    ..To establish a stable, accurate and intuitive method for detecting the CAG trinucleotide repeats of MJD1 gene...
  13. ncbi Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia
    Hong Jiang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    J Neurol Sci 241:1-6. 2006
    ..To our knowledge, this is the first report of ATM mutations in Mainland China, in which the transversions 1346G>C (Gly449Ala) and 610G>T (Gly204Stop) are two novel, disease-causing mutations...
  14. ncbi [Frequency of different subtypes of spinocerebellar ataxia in the Han nationality of Hunan province in China]
    Xing-wang Song
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 31:702-5. 2006
    ..CONCLUSION: The frequency of SCA3 is substantially higher than that of SCA1 and SCA2 in the autosomal dominant SCA patients in the Han nationality of Hunan province. SCA6 and SCA7 are rare subtypes...
  15. ncbi [Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia]
    Jing Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:302-4. 2007
    ..To detect mutations of guanosine triphosphate cyclohydrolase I (GCH1) gene in Chinese patients with dopa responsive dystonia (DRD)...
  16. ncbi [Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease]
    Xiao Min Liu
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:510-3. 2005
    ..To investigate the features of small heat shock protein 27 (HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth disease (CMT)...
  17. ncbi Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease
    Beisha Tang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, People s Republic of China
    Arch Neurol 62:1201-7. 2005
    ..Recently, mutations in small heat shock protein 27 (Hsp27) were reported to cause CMT disease type 2F and distal hereditary motor neuropathy...
  18. ncbi Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases
    Junling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:482-9. 2011
    ..To undertake an updated genetic spectrum analysis in patients with hereditary spinocerebellar ataxia (SCA) in mainland China...
  19. ncbi Research on screening and identification of proteins interacting with ataxin-3
    Lu Shen
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:242-7. 2005
    ....
  20. ncbi Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson's disease in Chinese population
    Xing Zuo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Neurosci Lett 481:69-72. 2010
    ..We concluded that the two markers rs9652490 and rs11856808 were not strongly related to the development of ET or late onset SPD, but the rs9652490G allele might be a protective factor for EOPD in Chinese population...
  21. ncbi [Mutation detection of parkin gene by denaturing high performance liquid chromatography]
    Jing Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:449-52. 2007
    ..To detect parkin gene mutation of early-onset parkinsonism (EOP) by denaturing high performance liquid chromatography (DHPLC)...
  22. ncbi [Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han]
    Junling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26:620-5. 2009
    ..To investigate the CAG trinucleotide repeat expansion in spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7, 12, and 17 from Chinese Han...
  23. ncbi Mutation detection in candidate genes for benign familial infantile seizures on a novel locus
    Nan Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China
    Int J Neurosci 120:217-21. 2010
    ..The analyses suggest those candidate genes that were detected might not be involved in the epileptogenesis of pure BFIS, at least in the Chinese family we studied...
  24. ncbi [Exon rearrangement analysis of parkin gene in patients with isolated early-onset parkinsonism using semi-quantitative PCR]
    Ji-feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Chansha 410008, China
    Zhonghua Yi Xue Za Zhi 86:1447-9. 2006
    ..49 respectively, showing that they had heterozygous deletions of exon 2, 3, and 4 respectively. No exon multiplication was found in this study. CONCLUSION: Exon rearrangement of parkin gene exists in Chinese patients with isolated EOP...
  25. ncbi Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds
    Dandan Jia
    Department of Neurology, Xiangya Hospital, Central South University Changsha, Hunan, China
    Int J Neurosci 122:560-2. 2012
    ..At last, we did not find AFG3L2 gene mutation, except for three known single nucleotide polymorphisms (SNP)s. It suggests that SCA28 subtype is very rare in Chinese mainland...
  26. ncbi Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population
    Zhao Chen
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Neurosci Lett 520:16-9. 2012
    ..10delC) characterized by different clinical features, which is probably a novel insertion/deletion (I/D) polymorphism in the 5'UTR region of the exon 1b. It suggests that SCA27 is a rare subtype in China...
  27. ncbi Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease
    Ru-xu Zhang
    Department of Neurology, Xiangya Hospital, Changsha 410008, China
    Beijing Da Xue Xue Bao 37:68-71. 2005
    ..Male patients are usually more severely affected than females with slower nerve conduction velocities. Cx32 mutation screening should be firstly performed in those CMT families without male-to-male transmission and CMT1A duplication...
  28. ncbi Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    Mov Disord 23:2074-9. 2008
    ..Mutations of DJ-1 and PINK1 gene are also found in Chinese families with AREP. Mutations in ATP13A2 gene may be rare in Chinese families with AREP...
  29. ncbi Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6
    Hong Jiang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Chin Med J (Engl) 118:837-43. 2005
    ..CONCLUSION: A geographic cluster of families with SCA6 subtype was initially identified in a mainland Chinese population...
  30. ncbi Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic
    Yin guang Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    J Neurol Sci 285:121-4. 2009
    ..But the data in China is still absent...
  31. ncbi SUMO-1 modification on K166 of polyQ-expanded ataxin-3 strengthens its stability and increases its cytotoxicity
    Ya fang Zhou
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
    PLoS ONE 8:e54214. 2013
    ..Our findings revealed the role of ataxin-3 SUMOylation in SCA3/MJD pathogenesis...
  32. ncbi [Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism]
    Ji-feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R.China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23:70-3. 2006
    ..CONCLUSION: There are parkin mutations happened in Chinese patients with AR-JP. Patients with parkin mutations have distinct clinical features besides the common clinical features of Parkinson's disease...
  33. ncbi Diazoxide preconditioning against seizure-induced oxidative injury is via the PI3K/Akt pathway in epileptic rat
    Yuan Xue
    Department of Neurology, Qilu Hospital, Shandong University, 44, Wenhua Xi Road, Jinan 250012, China
    Neurosci Lett 495:130-4. 2011
    ..DZ could reduce oxidative injury induced by seizures by suppressing the activity of MDA and increasing the level of SOD in part by the PI3K/Akt pathway...
  34. ncbi A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions
    Haiyan Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Epilepsy Res 79:1-5. 2008
    ..To our knowledge, this is the first report of KCNQ3 mutation in Chinese family with BFNC...
  35. ncbi [Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population]
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:501-5. 2010
    ....
  36. ncbi [Studies on the CTA/CTG trinucleotide repeats of ATXN8OS gene in Chinese Hans]
    Junling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:511-4. 2008
    ..To study the normal range of (CTA/CTG)n repeats of ATXN8OS gene in Chinese Hans, and the frequency of ATXN8OS (CTA/CTG)n repeat expansion in spinocerebellar ataxia(SCA) patients in Mainland China...
  37. ncbi Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, 410008, China
    Brain 134:3493-3501. 2011
    ..Thus, we have identified PRRT2 as the first causative gene of paroxysmal kinesigenic dyskinesias, warranting further investigations to understand the pathogenesis of this disorder...
  38. ncbi A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia
    Guo Hua Zhao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China
    Chin Med J (Engl) 121:430-4. 2008
    ..Thirteen loci for autosomal dominant HSP have been mapped...
  39. ncbi Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families
    Hong Jiang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    J Neurol Sci 236:25-9. 2005
    ..In the 4 families with SCA6, we found significant anticipation in the absence of genetic instability on transmission. This is the first report of geographic cluster of families with SCA6 subtype in Mainland China...
  40. ncbi Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis
    Wen Juan Guan
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, China
    Biochem Biophys Res Commun 430:780-6. 2013
    ..Furthermore, overexpressing the TG6 mutants sensitized cells to staurosporine-induced apoptosis by increasing the activity of caspases. We propose that the pro-apoptotic role of these mutants might underlie the pathogenesis of SCA35...
  41. ncbi Magnetic resonance spectroscopy of the cerebellum in patients with spinocerebellar ataxia type 3/Machado-Joseph disease
    Lifang Lei
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:511-9. 2011
    ....
  42. ncbi Activation of nuclear factor erythroid 2-related factor 2 cytoprotective signaling by curcumin protect primary spinal cord astrocytes against oxidative toxicity
    Hong Jiang
    Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, People s Republic of China
    Biol Pharm Bull 34:1194-7. 2011
    ....
  43. ncbi [The advances in research on phosphorylation of polyglutamine disease]
    Ya fang Zhou
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:414-7. 2008
    ....
  44. ncbi The correlation between magnetic resonance imaging features of the brainstem and cerebellum and clinical features of spinocerebellar ataxia 3/Machado-Joseph disease
    Xiaochun Liang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410 078, Hunan, P R China
    Neurol India 57:578-83. 2009
    ..However, the correlation between brainstem and cerebellar atrophy and the clinical features has not been well studied...
  45. ncbi Mitochondrial transcription factor A (TFAM) polymorphisms and risk of late-onset Alzheimer's disease in Han Chinese
    Qun Zhang
    Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, No 5 Donghai Middle Road, Qingdao, Shandong Province 266071, China
    Brain Res 1368:355-60. 2011
    ..Haplotype analysis identified the haplotype CC as a protective factor of LOAD (P=0.038, OR=0.76). This study provides the evidence that variations in TFAM are involved in the pathogenesis of sporadic LOAD in the Han Chinese population...
  46. ncbi [Construction of the eukaryotic expression vector of MJD1 and its expression in SH-SY5Y cells]
    Jian-Guang Tang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 30:640-4. 2005
    ..1-Myc-His(-) B-MJD20Q did not show such phenomenon. CONCLUSION: The eukaryotic expression vectors of MJD1 has been successfully constructed; The polyglutamine expansion in ataxin-3 could lead to the formation of intranuclear aggregation...
  47. ncbi Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum
    Shu sheng Liao
    Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China
    J Neurol Sci 275:92-9. 2008
    ..Recently pathogenic mutations in the KIAA1840 (now named SPG11) for SPG11, the major HSP-TCC locus, were identified; at least 42 different mutations have been detected...
  48. ncbi Role of PI3K/Akt in diazoxide preconditioning against rat hippocampal neuronal death in pilocarpine-induced seizures
    Yuan Xue
    Department of Neurology, Qilu Hospital, Shandong University, 44, Wenhua Xi Road, Jinan 250012, China
    Brain Res 1383:135-40. 2011
    ..DZ could reduce neuronal death induced by seizures in hippocampus by suppressing the translocation of AIF, CytC release and the activation of caspase-3 via the PI3K/Akt pathway...
  49. ncbi [Clinical characteristics and molecular biology of hereditary spinocerebellar ataxia type 7: study of 3 Chinese families]
    Xing-wang Song
    Department of Neurology, Xiangya Hospital of Central South University, Changsha 410008, China
    Zhonghua Yi Xue Za Zhi 86:1755-8. 2006
    ..82 in the microsatellite D3S1300 at recombination fraction (theta = 0.00). CONCLUSION: CAG expansion is the pathogenic cause of SCA7, a rare subtype of SCA. The 38 CAG is the minimum pathological expansion in mainland China...
  50. ncbi A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family
    Beisha Tang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    J Neurol Sci 221:31-4. 2004
    ..An unusual clinical feature of this family is that the seizures of every patient did not remit until 12 to 18 months. This is the first report of KCNQ2 gene mutation in China...
  51. ncbi [Roles of axonal transport affected by K141N mutant HSP22 in the pathogenesis of CMT2L]
    Fu feng Zhang
    Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China
    Zhonghua Yi Xue Za Zhi 92:496-8. 2012
    ..To compare the axonal transport of wild-type (WT) and K141N mutant HSP22 in transfected primary cultured cortical neurons...
  52. ncbi Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
    Bei sha Tang
    National Laboratory of Medical Genetics of China, Central South University, 410078, Changsha, Hunan, People s Republic of China
    Hum Genet 116:222-4. 2005
    ..No disease-causing mutations have been identified in another 114 CMT families...
  53. ncbi [Screening for proteins interacting with ataxin-3, the gene product of SCA3/MJD]
    Lu Shen
    Department of Neurology, Xiangya Hospital, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 31:40-4. 2006
    ..To screen for proteins interacting with ataxin-3 by yeast two-hybrid system 3, and to discuss the function of ataxin-3 and pathogenesis of spinocerebellar ataxia type 3 and Machado-Joseph disease (SCA3/MJD)...
  54. ncbi [Direct interaction between BAG5 protein and Parkin protein]
    XueJing Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 35:1156-61. 2010
    ..To explore the interaction between BCL2-associated athanogene 5 (BAG5) and Parkin protein,and the regulatory mechanism of BAG5 protein on the level of Parkin protein...
  55. ncbi Sodium valproate alleviates neurodegeneration in SCA3/MJD via suppressing apoptosis and rescuing the hypoacetylation levels of histone H3 and H4
    Jiping Yi
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
    PLoS ONE 8:e54792. 2013
    ..These results collectively support the premise that VPA is a promising therapeutic agent for the treatment of SCA3 and other polyQ diseases...
  56. ncbi Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population
    Yu tao Liu
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People s Republic of China
    Neurosci Lett 528:51-4. 2012
    ..Although no SCA23 mutation was identified, one novel single nucleotide polymorphism (c.255G>A, p.Lys85Lys) in exon 4 of the PDYN gene was found. This suggests that SCA23 is a rare form of dominant ataxia in the Chinese Han population...
  57. ncbi Related factors of ICARS and SARA scores on spinocerebellar ataxia type 3/Machado-Joseph disease
    Jie Zhou
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:498-503. 2011
    ..To investigate the related factors of international cooperative ataxia rating scale (ICARS) and scale for the assessment and rating of ataxia scores (SARA) in patients with spinocerebellar ataxia type 3/Machado-Joseph disease...
  58. ncbi Common variant in GAB2 is associated with late-onset Alzheimer's disease in Han Chinese
    Xiao ling Zhong
    Department of Neurology, Qingdao Municipal Hospital, Qingdao University, Shandong Province, China
    Clin Chim Acta 412:446-9. 2011
    ..While there are no studies on the association of rs10793294 polymorphism with AD risk in the Chinese population...
  59. ncbi [Research on clinical characteristics and ATM gene mutations in Chinese patients with ataxia-telangiectasia]
    Hong Jiang
    Department of Neurology, Xiangya Hospital, Central-South University, Changsha 410008, China
    Zhonghua Yi Xue Za Zhi 85:1117-20. 2005
    ..They were co-segregated with the disease and were localized within the functional domain of ATM gene. CONCLUSION: We have made gene diagnoses for two Chinese AT patients, in which three novel ATM gene mutations were identified...
  60. ncbi Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases
    Bei sha Tang
    Department of Neurology, Xiangya Hospital, Central Southern University, Changsha 410008, China
    Chin Med J (Engl) 117:1002-5. 2004
    ..This study was conducted to investigate the clinical features of hereditary spastic paraplegia with thin corpus callosum (HSP-TCC)...
  61. ncbi [Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia]
    Yafang Zhou
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:646-8. 2008
    ..To study the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in spinocerebellar ataxia (SCA) patients in China...
  62. ncbi [Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease]
    Dandan Jia
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:660-2. 2008
    ..In this review, authors covered the recent advances in molecular genetic of SCA3/MJD...
  63. ncbi [The clinical and genetic characteristics of autosomal recessive juvenile Parkinsonism in a Chinese family]
    Ya-wei Shen
    Department of Neurology, Xiangya Hospital of Central South University, Changsha 418000, China
    Zhonghua Nei Ke Za Zhi 44:360-2. 2005
    ....
  64. ncbi A neuropathological study at autopsy of early onset spinocerebellar ataxia 6
    XueJing Wang
    Department of Neurology, Xiangya Hospital, Central South University, Xiangya Road, Changsha, Hunan 410008, PR China
    J Clin Neurosci 17:751-5. 2010
    ..Finally, our postmortem study confirms that SCA6 is not a simple "pure" cerebellar disease, but a complex neurodegenerative condition in which many extracerebellar structures are involved...
  65. ncbi A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease
    Jifeng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Neurosci Lett 468:34-7. 2010
    ..The amnestic presentation and absence of other features contrast with the other two mutations at codon 169 which have been associated with myoclonic jerks and seizures...
  66. ncbi Tau-tubulin kinase-1 gene variants are associated with Alzheimer's disease in Han Chinese
    Nan Nan Yu
    Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao 266071, China
    Neurosci Lett 491:83-6. 2011
    ..78, P=0.037). This study provides the evidence that variations in the TTBK1 gene may play an important role in the pathogenesis of sporadic LOAD in a Han Chinese population...
  67. ncbi Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population
    Lei Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Neurosci Lett 473:131-5. 2010
    ..Another variant Gln979stop encodes a truncated protein. In conclusion, we identified nine novel variants in GIGYF2 gene, which might be associated with PD in the Chinese population...
  68. ncbi Serum concentrations of NSE and S100B in spinocerebellar ataxia type 3/Machado-Joseph disease
    Jie Zhou
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:504-10. 2011
    ....
  69. ncbi [Research progress in roles of microRNA in polyglutamine diseases]
    Yu ting Shi
    Department of Neurology, Xiangya Hospital, Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:406-9. 2010
    ..This review is focused on research progress in roles of miRNA in the pathogenesis of PolyQ diseases...
  70. ncbi Ischemic preconditioning detected by treadmill exercise tests in patients with stable angina
    Jian Jun Li
    Department of Cardiology, Renmin Hospital, Wuhan University School of Medicine, Wuhan, People s Republic of China
    Angiology 54:45-50. 2003
    ..In conclusion, the first ischemic event could induce the IP phenomenon and protect the heart from more serious damage at a 10-minute interval. However, this effect disappeared when the second test was done at a 60-minute interval...
  71. ncbi M2 and M3-muscarinic acetylcholine receptors remodelling in patients with a dilated atrium
    Qingyan Zhao
    Department of Cardiology, Renmin Hospital of Wuhan University, Wuhan, People s Republic of China
    Acta Cardiol 63:166-70. 2008
    ..We investigated the remodelling of muscarinic receptors in patients with dilated atrium and assessed the relationship between the muscarinic receptor remodelling and the dilated atrium...
  72. ncbi Identification of human fetal liver miRNAs by a novel method
    Hanjiang Fu
    Beijing Institute of Radiation Medicine, Department of Biochemistry and Molecular Biology, 27 Taiping Road, Beijing 100850, People s Republic of China
    FEBS Lett 579:3849-54. 2005
    ..These finding indicate that a large diverse population of miRNAs may function to regulate gene expression in hepatocyte...
  73. ncbi Differences in the changing trends of monophasic action potential duration and effective refractory period of the ventricular myocardium after myocardial infarction in vivo
    Congxin Huang
    Department of Cardiology, Renmin Hospital of Wuhan University, Wuhan, Hubei, China
    Circ J 68:1205-9. 2004
    ..The relationship between monophasic action potential duration (MAPD) and effective refractory period (ERP) is poorly understood after myocardial infarction (MI) in vivo...
  74. ncbi Time course of inflammatory response after renal artery stenting in patients with atherosclerotic renal stenosis
    Jian Jun Li
    Renmin Hospital, Wuhan University School of Medicine, Wuhan 430060, PR China
    Clin Chim Acta 350:115-21. 2004
    ..Such response following renal artery stenting has not yet been established, however, in patients with atherosclerotic renal artery stenosis...
  75. ncbi Increased C-reactive protein level after renal stent implantation in patients with atherosclerotic renal stenosis
    Jian Jun Li
    Department of Cardiology, Renmin Hospital, Wuhan University School of Medicine, People s Republic of China
    Angiology 55:479-84. 2004
    ....
  76. ncbi Differential densities of muscarinic acetylcholine receptor and I(K,ACh) in canine supraventricular tissues and the effect of amiodarone on cholinergic atrial fibrillation and I(K,ACh)
    Cong Xin Huang
    Department of Cardiology, Renmin Hospital of Wuhan University, Wuhan, People s Republic of China
    Cardiology 106:36-43. 2006
    ....
  77. ncbi Abnormal expression of uncoupling protein-2 correlates with CYP11A1 expression in polycystic ovary syndrome
    Yun Liu
    Center for Reproductive Medicine, Fuzhou General Hospital, Fuzhou, Fujian Province, China
    Reprod Fertil Dev 23:520-6. 2011
    ..These changes in UCP-2 and CYP11A1 expression may mediate follicle development in PCOS...
  78. ncbi [Usability of the laboratory report and knowledge of lipid-lowering in out-patients from dyslipidemia-related departments]
    Sheng kai Yan
    Department of Laboratory Medicine, China Japan Friendship Hospital, and Department of Epidemiology and Biostatistics, Peking University School of Public Health, Beijing 100029, China
    Beijing Da Xue Xue Bao 42:675-80. 2010
    ..To investigate the usability of laboratory test report from the angle of patients and understand to what degree the patients master the knowledge of lipid-lowering...
  79. ncbi [Multi-center clinical trial on efficacy of national-made radiofrequency ablation catheter for the treatment of atrioventricular nodal reentrant tachycardia and atrioventricular reentrant tachycardia]
    Shu Lin Wu
    Department of Cardiology, Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Science, Guangzhou, China
    Zhonghua Xin Xue Guan Bing Za Zhi 38:35-8. 2010
    ..The aim of this trial is to compare the efficacy and safety between national-made and imported ablation catheters for the treatment of atrioventricular nodal reentrant tachycardia (AVNRT) and atrioventricular reentrant tachycardia (AVRT)...
  80. ncbi [Magnetic resonance imaging character in chronic injury of the elbows in athletes]
    Wei Zhang
    Department of Radiology, Wuhan Chinese and Western Medecine Hospital, Tongfi College, Huazhong University of Science and Technology, Wuhan 430022, Hubei, China
    Zhongguo Gu Shang 23:114-6. 2010
    ..To introduce the experiences of applying MR to diagnose the imaging characters in chronic injury of the elbows in athletes...
  81. ncbi [Actinobacterial diversity of marine sediment samples from Chile]
    Hong Jiang
    Fujian Provincial Key Laboratory of Screening for Novel Microbial Products, Fujian Institute of Microbiology, Fuzhou 350007, China
    Wei Sheng Wu Xue Bao 50:862-9. 2010
    ..The aim of this study was to investigate actinobacterial diversity in Chilean marine sediments...
  82. ncbi [Effects of simulated acid rain on Quercus glauca seedlings photosynthesis and chlorophyll fluorescence]
    Jia Li
    International Ecological Research Center of Zhejiang Forestry University, Hangzhou 311300, China
    Ying Yong Sheng Tai Xue Bao 20:2092-6. 2009
    ..5 and 4.0. All the results suggested that the photosynthesis and chlorophyll fluorescence of Q. glauca increased under the effects of acid rain with pH 2.5 and 4.0, and the acid rain with pH 2.5 had more obvious effects...
  83. ncbi Relationship between autonomic innervation in crista terminalis and atrial arrhythmia
    Qing Yan Zhao
    Cardiovascular Research Institute of Wuhan University, Renmin Hospital of Wuhan University, Wuhan City, China
    J Cardiovasc Electrophysiol 20:551-7. 2009
    ..This study sought to study the relation between autonomic innervation in CT and atrial arrhythmia...
  84. ncbi Paracrine action of HO-1-modified mesenchymal stem cells mediates cardiac protection and functional improvement
    Bin Zeng
    Department of Cardiology, Renmin Hospital of Wuhan University, 238 Jiefang Road, Wuhan, Hubei, PR China
    Cell Biol Int 32:1256-64. 2008
    ..It can be concluded hHO-1-modified MSCs prevent myocardial cell injury via secretion of paracrine-acting mediators...
  85. ncbi [Identification of a functional ITAM-like sequence within G1 cytoplasmic tail of Hantaan virus]
    Dan Lei Mou
    Center of Infectious Diseases, Tangdu Hospital, Fourth Military Medical University, Xi an 710038, China
    Bing Du Xue Bao 23:424-8. 2007
    ..These findings demonstrated that HTNV envelope glycoprotein G1 contains a functional ITAM-like sequence in its cytoplasmic tail, which can bind critical cellular kinases that regulate immune and endothelial cell functions...
  86. ncbi Abnormal intracellular calcium handling underlying T-wave alternans and its hysteresis
    Mingwei Bao
    Department of Cardiology, Renmin Hospital of Wuhan University, Wuhan, Hubei, China
    Cardiology 108:147-56. 2007
    ..To investigate the mechanism underlying T-wave alternans (TWA) and its hysteresis under ischemia conditions...
  87. ncbi Quality of life and cost for patients with premature ventricular contractions by radiofrequency catheter ablation
    Cong Xin Huang
    Department of Cardiology, Renmin Hospital of Wuhan University, Hubei, China
    Pacing Clin Electrophysiol 29:343-50. 2006
    ..To evaluate the quality of life (QoL), health-care resource utilization, and cost for the patients with premature ventricular contractions (PVCs) by radiofrequency catheter ablation (RFCA)...
  88. ncbi MG132 enhances neurite outgrowth in neurons overexpressing mutant TAR DNA-binding protein-43 via increase of HO-1
    Weisong Duan
    Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, People s Republic of China
    Brain Res 1397:1-9. 2011
    ..It was well known that HO-1 was regulated by nuclear factor E2-related factor 2 (Nrf2). However, MG132 increased the expression of HO-1 independent of the Nrf2 pathway...
  89. ncbi A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24
    Bei sha Tang
    National Laboratory of Medical Genetics of China, Central South University, 410078 Changsha, Hunan, People s Republic of China
    Hum Genet 114:527-33. 2004
    ..08 for marker D12S76 at a recombination fraction (theta) of 0 strongly supported linkage to this locus. Thus, CMT2 neuropathy in this family represents a novel genetic entity that we have designated as CMT2L...
  90. ncbi [Fragile X-associated tremor/ataxia syndrome]
    Wei Wei Han
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28:52-5. 2011
    ..In this paper, the research progress of clinical manifestatios, pathological characteristics, epidemiology and molecular mechanisms will be reviewed...
  91. ncbi Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia
    Beisha Tang
    National Laboratory of Medical Genetics of China, and the Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People s Republic of China
    Arch Neurol 61:49-55. 2004
    ..The most common form of hereditary spastic paraplegia is caused by mutations in the spastin gene (SPG4), which encodes spastin, an adenosine triphosphatase associated with various cellular activities protein...
  92. ncbi [A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions]
    Hai-yan Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 20:482-5. 2003
    ..CONCLUSION: 1931delG of KCNQ2 gene can cause BFNC in China and is novel mutation. The combination of linkage analysis and gene analysis is useful for gene diagnosis...