Bei sha Tang

Summary

Country: China

Publications

  1. 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
  2. ncbi [Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum]
    Guo Hua Zhao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:677-80. 2007
  3. ncbi [Recent advance in genetic study of hereditary autosomal recessive cerebellar ataxia]
    WenJuan Guan
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29:673-6. 2012
  4. ncbi [Functions of carboxyl-terminus of Hsc70 interacting protein and its role in neurodegenerative disease]
    Wei Qian Yan
    Department of Neurology, Central South University, Changsha, Hunan, People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29:426-30. 2012
  5. ncbi Dispensable role of Drosophila ortholog of LRRK2 kinase activity in survival of dopaminergic neurons
    Danling Wang
    Burnham Institute for Medical Research, 10901 North Torrey Pines Road, La Jolla, California 92037, USA
    Mol Neurodegener 3:3. 2008
  6. ncbi [Progress in molecular genetics of epilepsy]
    Beisha Tang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 19:505-7. 2002
  7. ncbi [Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome]
    Yuhu Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:189-91. 2005
  8. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications92

  1. 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)...
  2. ncbi [Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum]
    Guo Hua Zhao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:677-80. 2007
    ..To screen all ten genes between D15S971 and D15S1012 in five Chinese families with hereditary spastic paraplegia with thin corpus callosum (HSP-TCC)...
  3. ncbi [Recent advance in genetic study of hereditary autosomal recessive cerebellar ataxia]
    WenJuan Guan
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29:673-6. 2012
    ..This review summarizes clinical features, molecular genetics and recent advances in DNA sequencing of common types of ARCA...
  4. ncbi [Functions of carboxyl-terminus of Hsc70 interacting protein and its role in neurodegenerative disease]
    Wei Qian Yan
    Department of Neurology, Central South University, Changsha, Hunan, People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29:426-30. 2012
    ..This article reviews the molecular characteristics and physiological functions of CHIP, and its role in cellular metabolism and discusses the relationship between CHIP dysfunction and neurodegenerative diseases...
  5. ncbi Dispensable role of Drosophila ortholog of LRRK2 kinase activity in survival of dopaminergic neurons
    Danling Wang
    Burnham Institute for Medical Research, 10901 North Torrey Pines Road, La Jolla, California 92037, USA
    Mol Neurodegener 3:3. 2008
    ..Increased LRRK2 kinase activity plays a critical role in pathogenic LRRK2 mutant-induced neurodegeneration in vitro. Little is known about the physiological function of LRRK2...
  6. ncbi [Progress in molecular genetics of epilepsy]
    Beisha Tang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 19:505-7. 2002
    ....
  7. ncbi [Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome]
    Yuhu Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:189-91. 2005
    ..To study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS)...
  8. 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...
  9. 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...
  10. 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)...
  11. 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...
  12. 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...
  13. 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...
  14. ncbi Mutation analysis of LRRK2, SCNA, UCHL1, HtrA2 and GIGYF2 genes in Chinese patients with autosomal dorminant Parkinson's disease
    Jin Yong Tian
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People s Republic of China
    Neurosci Lett 516:207-11. 2012
    ..However, no pathogenic mutations in the five genes were found in these families. Our result indicated that SCNA, LRRK2, UCHL1, HtrA2 and GIGYF2 genes' mutations might not be a main reason for Chinese ADPD...
  15. ncbi Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    J Neurol 257:1170-5. 2010
    ..4%) with mutation of DJ-1 gene. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with sporadic EOP. Mutations of DJ-1 and PINK1 gene are also found in Chinese patients with sporadic EOP...
  16. 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)...
  17. 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...
  18. 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)...
  19. 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...
  20. ncbi PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population
    Jia Liu
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Brain Res 1392:116-20. 2011
    ..09, p=0.002, OR=0.89. These findings suggest that the PITX3 gene rs3758549 polymorphism may increase the susceptibility of PD...
  21. 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...
  22. 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
    ....
  23. ncbi Follow-up study of variants of the GIGYF2 gene in Chinese patients with Parkinson’s disease
    Lei Wang
    Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, China
    J Clin Neurosci 18:1699-701. 2011
    ..In conclusion, within the Chinese population, the c.297T>C p.Ala99Ala polymorphism of the GIGYF2 gene may be associated with an increased risk of developing PD...
  24. ncbi [Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism]
    Dan He
    Department of Neurology, Xiangya Hospital of Central South University, Changsha, Hunan, 410008, PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26:567-70. 2009
    ..To investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP)...
  25. 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...
  26. 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
    ....
  27. ncbi Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease
    Fu feng Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:361-3. 2005
    ..To study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease...
  28. ncbi FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients
    Lin zi Luo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, PR China
    Neurosci Lett 482:86-9. 2010
    ..A155G), but no pathogenetic mutations in the FBXO7 gene were detected. This suggests that FBXO7 mutations may be rare in Chinese early-onset Parkinsonism patients...
  29. ncbi Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People s Republic of China
    Neurol Sci 32:35-40. 2011
    ..Our results suggested the three autosomal recessive forms of early onset are similar to each other on pathophysiological grounds, a sub-clinical disease process in Parkin and PINK1-heterozygotes, but not in DJ-1-heterozygotes...
  30. ncbi Association study between two novel single nucleotide polymorphisms and sporadic Parkinson's disease in Chinese Han population
    Kai Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People s Republic of China
    Neurosci Lett 517:56-9. 2012
    ..However, due to the limited data in the present study, replication studies in larger sample and other populations are required...
  31. ncbi Genetic variations of Omi/HTRA2 in Chinese patients with Parkinson's disease
    Chun Yu Wang
    Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan 4100011, People s Republic of China
    Brain Res 1385:293-7. 2011
    ..The IVS5+29T>A variant may be a risk factor for PD (P<0.05), while the c.G77A variant might be a pathogenic mutation. However, the findings need to be validated in a larger population using further functional studies...
  32. ncbi Study of the relationship between gene polymorphisms of paraoxonase 2 and stroke in a Chinese population
    Hong Wei Xu
    Institute of Neurology, Xiangya Hospital, Central South University, Changsha, China
    Cerebrovasc Dis 25:87-94. 2008
    ..PON2, the second member of this family, has two polymorphisms, C311S and G148A. Our study explores the relationship between the two polymorphisms of PON2 and stroke...
  33. ncbi LRRK2 Pro755Leu variant in ethnic Chinese population with Parkinson's disease
    Ling Yan Yao
    Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, PR China
    Neurosci Lett 495:35-8. 2011
    ..48, P=0.63, odds ratio=1.44, 95% CI: 0.32-6.40). Given these findings, it was quite reasonable to suppose that LRRK2 Pro755Leu variant rarely increased risk for PD in ethnic Chinese population in Asia...
  34. ncbi Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
    Qi ying Sun
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    Mov Disord 25:1005-11. 2010
    ..76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21-18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population...
  35. ncbi Lower serum UA levels in Parkinson's disease patients in the Chinese population
    Hai Nan Zhang
    Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, People s Republic of China
    Neurosci Lett 514:152-5. 2012
    ..Our results indicate that UA could be an important biomarker of PD and that the serum UA level could be a useful biomarker of PD diagnosis and disease progression...
  36. ncbi Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus
    Nan Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Neurosci Lett 480:211-4. 2010
    ..Our finding extends the spectrum of SCN1A mutations related to GEFS+ and further confirms the contribution of the sodium channel genes to the etiology of idiopathic epilepsies...
  37. 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)...
  38. 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)...
  39. ncbi [Spastin gene mutation in Chinese patients with hereditary spastic paraplegia]
    Guo Hua Zhao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 20:177-80. 2003
    ..To investigate the mutation characteristics of spastin gene in Chinese patients with hereditary spastic paraplegia (HSP) and thus provide a basis for the gene diagnosis of HSP...
  40. ncbi [Establishment and application of an analytical method for PINK1 gene exon copy number]
    Hai Nan Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:158-61. 2010
    ..To establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1) exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP)...
  41. 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...
  42. 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
    ....
  43. ncbi Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population
    Jin Yong Tian
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People s Republic of China
    Neurosci Lett 514:156-8. 2012
    ..Bioinformatics demonstrates that p.G679V exhibits highly conserved residues across species, which hints it might be a pathogenic mutation. Our result indicated that PLA2G6 mutations might not be a main cause of Chinese sporadic EOP...
  44. 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...
  45. ncbi Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration
    Yu hu Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    Mov Disord 20:819-21. 2005
    ..Dysarthria, dysphagia, and dystonic-athetoid movements of the face and right fingers were marked. Magnetic resonance showed the typical "eye-of-the-tiger" sign...
  46. ncbi [Cellular expression of (R127W)HSPB1 and its co-localization with neurofilament light chain]
    Ru xu Zhang
    Department of Neurology, Central South University, Changsha, Hunan, People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28:496-500. 2011
    ..To observe the cellular expression of (R127W) HSPB1 and its influence on neurofilament light chain (NFL) self-assembly and co-localization with NFL...
  47. 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
    ....
  48. ncbi [Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR]
    Fu feng Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:537-40. 2005
    ....
  49. ncbi [Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.]
    Ru xu Zhang
    Department of Neurology, tCentral South University, Changsha, China
    Yi Chuan 32:817-23. 2010
    ..1910C-->T in LMNA gene are newly found SNPs in this study. Variation of c.274A-->G in LITAF gene is known SNP reported in SNP database. Mutations in LITAF, RAB7, LMNA, and MTMR2 genes are rare in Chinese CMT patients...
  50. ncbi VPS35 gene variants are not associated with Parkinson's disease in the mainland Chinese population
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
    Parkinsonism Relat Disord 18:983-5. 2012
    ..None of the 1011 sporadic PD patients and 1016 controls carried the VPS35 gene c.1858G > A (p.Asp620Asn) mutation. Our data indicated that the VPS35 variants are not associated with PD in the mainland Chinese population...
  51. ncbi 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...
  52. ncbi [Metabolic pathways of OGCP and the influence of parkin protein on the metabolism of OGCP]
    Chun Yu Wang
    Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha 410011, China
    Sichuan Da Xue Xue Bao Yi Xue Ban 42:157-60. 2011
    ..To study the metabolic pathways of 2-oxoglutarate carrier protein (OGCP)and the influence of parkin protein on the metabolism of OGCP...
  53. ncbi [Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease]
    Ru xu Zhang
    Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China
    Zhonghua Yi Xue Za Zhi 89:3324-7. 2009
    ..To analyze MFN2 gene mutation in Chinese patients Charcot-Marie-Tooth disease (CMT) and to establish a quick and effective diagnostic method...
  54. ncbi A novel LRRK2 mutation in a mainland Chinese patient with familial Parkinson's disease
    Lei Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Neurosci Lett 468:198-201. 2010
    ..In conclusion, we identified a novel mutation in LRRK2 gene, which was the first mutation of LRRK2 found in the mainland Chinese population with familial Parkinson's disease...
  55. ncbi [The clinical characteristics of a pedigree with incompletely penetrated autosomal dominant hereditary spastic paraplegia and its exclusion analysis of genetic loci]
    Guo Hua Zhao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:304-7. 2008
    ..To describe the clinical features of a big family with incompletely penetrated autosomal dominant hereditary spastic paraplegia (SPG) and perform the exclusion analysis of genetic loci...
  56. ncbi [The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L]
    Shu jian Li
    Department of Neurology, Henan Provincial People s Hospital, Zhengzhou, Henan, People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28:528-31. 2011
    ..To study the effect of Charcot-Marie-Tooth 2L disease causing gene K141N mutation in heat shock protein B8 gene (HSPB8) on cell viability...
  57. 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...
  58. ncbi [Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families]
    Ya jing Zhan
    Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China
    Zhonghua Yi Xue Za Zhi 92:1463-7. 2012
    ..To analyze the mutation of CX32 gene and related clinical features in Chinese Han patients with Charcot-Marie-Tooth (CMT) disease...
  59. ncbi [Relationship between single nucleotide polymorphisms of paraoxonase 2 and stroke]
    Hong Wei Xu
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:328-30. 2007
    ..To study the relationship between single nucleotide polymorphisms of paraoxonase 2 (PON2) and stroke...
  60. ncbi [TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia]
    Wei Liu
    Department of Neurology, Xiangya Hospital, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21:452-4. 2004
    ..To explore the mutation of tyrosine hydroxylase(TH) gene in Chinese patients with autosomal recessive(AR) dopa-responsive dystonia(DRD) and to lay a solid basis for gene diagnosis of AR-DRD in China...
  61. 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...
  62. 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...
  63. 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...
  64. ncbi [Protective effect of over-expression OGCP on HEK293 cells treated by rotenone and mutant Parkin protein]
    Chun Yu Wang
    Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha 410011, China
    Sichuan Da Xue Xue Bao Yi Xue Ban 41:604-8. 2010
    ..To study the effect of alpha-ketoglutarate carrier protein (2-oxoglutarate carrier protein, OGCP) and the Parkin protein on HEK293 cell function...
  65. ncbi [Distribution of genotype and allele frequencies of dopamine D4 receptor gene 48 bp variable number tandem repeat polymorphism in Chinese Han population in Hunan]
    Ai Ling Zhao
    Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:470-2. 2005
    ..To investigate the distribution of genotype and allele frequencies of the dopamine D4 receptor(DRD4) gene exon 3 48 bp variable number of tandem repeats polymorphism in Hunan Han population...
  66. 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...
  67. ncbi R492X mutation in PTEN-induced putative kinase 1 induced cellular mitochondrial dysfunction and oxidative stress
    Xiang li Yuan
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Brain Res 1351:229-37. 2010
    ..Our results suggest that the R492X mutation can cause mitochondrial dysfunction and oxidative stress and can associate with MPP(+) to induce mitochondrial dysfunction and oxidative stress...
  68. 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...
  69. 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)...
  70. 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...
  71. 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...
  72. 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
    ....
  73. ncbi Association of the DRD2 and DRD3 polymorphisms with response to pramipexole in Parkinson's disease patients
    Ying zi Liu
    Pharmacogenetics Research Institute, Institute of Clinical Pharmacology, Central South University, Changsha, Hunan, 410078, China
    Eur J Clin Pharmacol 65:679-83. 2009
    ..To evaluate the impact of the DRD2 TaqIA and DRD3 Ser9Gly polymorphisms on the efficacy of pramipexole in treating patients with Parkinson's disease (PD)...
  74. ncbi [Lecithin-cholesterol acyltransferase gene 608C/T polymorphism associated with atherosclerotic cerebral infarction]
    Xiao yan Zhu
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23:419-22. 2006
    ..To explore the distribution of lecithin-cholesterol acyltransferase gene (LCAT) 608C/T polymorphism in Chinese Han population and the relationship of the polymorphism association with the occurrence of atherosclerotic cerebral infarction...
  75. ncbi [Blockade of the aberrant aggregation of alpha-synuclein in HEK293 cells induced by overexpression of wild-type alpha-synuclein by RNA interference]
    Tao Chen
    Department of Neurology, The Affiliated Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:128-31. 2008
    ..To construct specific and effective RNA interference(RNAi) plasmid for alpha-synuclein gene and investigate RNAi blockade of the aberrant aggregation of alpha-synuclein in HEK293 cells induced by overexpression of wild-type alpha-synuclein...
  76. 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...
  77. ncbi [Molecular basis of spinocerebellar ataxias subtype caused by nucleotide repeat expansion in noncoding region]
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:293-6. 2008
    ....
  78. ncbi [Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease]
    Ru-xu Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21:207-10. 2004
    ..The homozygous and heterozygous T507G were common SNPs in Chinese population. CONCLUSION: A533G and A767G of GDAP1 gene were new mutations firstly reported...
  79. 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...
  80. ncbi [Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L]
    Ru-xu Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P. R. China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23:601-4. 2006
    ..K141N)HSPB8 co-localizes perfectly with HSPB1 and NEFL. The aggregate formation may be due to (K141N)HSPB8 conformational change leading to self aggregation and its abnormal interaction with other sHSPs such as HSPB1...
  81. ncbi [Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family]
    Wei Luo
    Department of Neurology, The Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310009, China
    Zhejiang Da Xue Xue Bao Yi Xue Ban 34:529-33. 2005
    ..CONCLUSION: The results are consistent with the diagnosis of CMT2. This family represents a rare genetic type of CMT2 which can be designated as CMT2L...
  82. 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
    ....
  83. 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...
  84. 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...
  85. 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...
  86. ncbi [Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6]
    Yu-Hu Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhonghua Yi Xue Za Zhi 85:1538-41. 2005
    ..However, dyskinesias related to levodopa treatment were absent. CONCLUSION: PINK1 gene mutations are a common cause of AREP. PARK6 pedigrees have been firstly identified in Chinese Mainland. Clinical heterogeneity exists in PARK6...
  87. ncbi Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography
    Hai-Yan Zhu
    National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha 410078, China
    Chin Med J (Engl) 119:1222-5. 2006
  88. 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...
  89. 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...
  90. 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...
  91. ncbi Association analysis of serotonin transporter promoter gene polymorphism with ADHD and related symptomatology
    Ai-Ling Zhao
    Departmemt of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha Hunan, People's Republic of China
    Int J Neurosci 115:1183-91. 2005
    ..Patients homozygous for the short allele showed more Withdrawn or Somatic complaint scores than subjects with the long allele...
  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...