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中国人阿耳茨海默病早老素-1基因测序一例 被引量:2

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出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2000年第2期143-144,共2页 Chinese Journal of Medical Genetics
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  • 1刘兴彦,尹利德,段勇,王玉明,程宝文,王燕.家族性阿尔茨海默病早老素-1基因突变研究[J].中华医学遗传学杂志,2004,21(5):455-458. 被引量:4
  • 2廖瑜,赵帆.家族性阿耳茨海默病八例[J]中华医学遗传学杂志,1994(06). 被引量:1
  • 3Ekaterina Rogaeva. The solved and unsolved mysteries of the genetics of early-onset Alzheimer’s disease[J] 2002,NeuroMolecular Medicine(1):1~10 被引量:1
  • 4McKeith IG, Dickson DW, Lowe J, et al. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium[ J]. Neurology, 2005, 65 (12) : 1863-1872. 被引量:1
  • 5Lamer AJ. Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships [ J ]. J Alzheimers Dis, 2013, 37(4): 653-659. DOI: 10.3233/JAD-130746. 被引量:1
  • 6Matsushita S, Arai H, Okamura N, et al. Clinical and biomarker investigation of a patient with a novel presenilin-1 mutation (A431V) in the mild cognitive impairment stage of Alzheimer's disease[J]. Biol Psychiatry, 2002, 52(9) : 907-910. 被引量:1
  • 7Ishikawa A, Piao YS, Miyashita A, et al. A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease [J]. Ann Neurol, 2005, 57(3) : 429-434. 被引量:1
  • 8Snider B J, Norton J, Coats MA, et al. Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life[J]. Arch Neurol, 2005, 62(12) : 1821- 1830. 被引量:1
  • 9Balasa M, Gelpi E, Antonell A, et al. Clinical features and APOE genotype of pathologically proven early-onset Alzheimer disease[J]. Neurology, 2011, 76(20): 1720-1725. DOI: 10. 1212/WNL. 0b013 e31821 a44dd. 被引量:1
  • 10Leverenz JB, Fishel MA, Peskind ER, et al. Lewy body pathology in familial Atzheimer disease: evidence for disease and mutation specific pathologic phenotype [J]. Arch Neurol, 2006, 63 (3) : 370-376. 被引量:1

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