Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson diseaseZ 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...
- 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)...
- 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...
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia familiesZ 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...
- 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...
- 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...
- 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...
- [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...
- 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...
- [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)...
High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxiaShi 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...
- 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...
- [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)...
- [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
....
- 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...
- [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...
- 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...
- 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...
- 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...
- 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
....
- 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...
- 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...
- 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...
- 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 Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China
J Neurol Sci 324:167-71. 2013
....
- 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...
- 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...
- [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...
- 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...
- PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia
Hong fu 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 19:61-5. 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...
- 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...
- [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
....
- [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
..Excessive loss or conversion (to 10q26) of 4q35 D4Z4 repeats, caused by 4q-10q interactions, may be essential for the mechanism of this disorder...
