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The R278I Mutation of PSEN1 in the Familial Alzheimer Disease

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참고문헌 (11)

  1. Nicolas G, "SORL1 rare variants : a major risk factor for familial early-onset Alzheimer's disease", Mol Psychiatry, 21, pp.831~836 (2016)
  2. Steinberg S, "Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease", Nat Genet, 47, pp.445~447 (2015)
  3. Cruchaga C, "Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families", PLoS One, 7, pp.e31039~ (2012)
  4. Nicolas G, "Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease : input and lessons", Eur J Hum Genet, 24, pp.710~716 (2016)
  5. Godbolt AK, "A presenilin 1 R278I mutation presenting with language impairment", Neurology, 63, pp.1702~1704 (2004)
  6. Kwok JB, "Two novel(M233T and R278T)presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype", Neuroreport, 8, pp.1537~1542 (1997)
  7. Dillen K, "A two decade contribution of molecular cell biology to the centennial of Alzheimer's disease: are we progressing toward therapy?", Int Rev Cytol, 254, pp.215~300 (2006)
  8. Takasugi N, "The role of presenilin cofactors in the gamma-secretase complex", Nature, 422, pp.438~441 (2003)
  9. Ryan NS, "Genetic determinants of white matter hyperintensities and amyloid angiopathy in familial Alzheimer's disease", Neurobiol Aging, 36, pp.3140~3151 (2015)
  10. Lek M, "Analysis of protein-coding genetic variation in 60, 706 humans", Nature, 536, pp.285~291 (2016)
  11. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)

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