논문KCI 등재
The R278I Mutation of PSEN1 in the Familial Alzheimer Disease
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참고문헌 (11)
- Nicolas G, "SORL1 rare variants : a major risk factor for familial early-onset Alzheimer's disease", Mol Psychiatry, 21, pp.831~836 (2016)
- Steinberg S, "Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease", Nat Genet, 47, pp.445~447 (2015)
- 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)
- 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)
- Godbolt AK, "A presenilin 1 R278I mutation presenting with language impairment", Neurology, 63, pp.1702~1704 (2004)
- 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)
- 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)
- Takasugi N, "The role of presenilin cofactors in the gamma-secretase complex", Nature, 422, pp.438~441 (2003)
- Ryan NS, "Genetic determinants of white matter hyperintensities and amyloid angiopathy in familial Alzheimer's disease", Neurobiol Aging, 36, pp.3140~3151 (2015)
- Lek M, "Analysis of protein-coding genetic variation in 60, 706 humans", Nature, 536, pp.285~291 (2016)
- 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)
관련 논문AI추천
조기발현가족성알츠하이머병에서 발견된 새로운 유전변이김승유, 김종원, 김중석, 배대웅, 유상원, 이광수대한신경과학회 · 대한신경과학회지2014 · 제32권 제4호Impact of Apolipoprotein E ε4 in Alzheimer’s Disease: Insights From a Meta-Analysis고성호, Hyuk Sung Kwon대한신경과학회 · Journal of Clinical Neurology2024 · 제20권 제5호Familial Creutzfeldt-Jakob Disease with M232R Mutation Progressed Slowly like Alzheimer’s Disease배희원, 양영순, 이슬기대한치매학회 · Dementia and Neurocognitive Disorders(대한치매학회지)2017 · 제16권 제3호Panel of Genetic Variations as a Potential Non-invasive Biomarker for Early Diagnosis of Alzheimer’s DiseaseLinda Chiu Wa Lam, Suk Ling Ma대한정신약물학회 · Clinical Psychopharmacology and Neuroscience2011 · 제9권 제2호Apolipoprotein E 유전자형과 알츠하이머형 치매의 통계적인 고찰박정오, 우명수, 유경래, 이연주, 정안나, 최삼규대한임상검사과학회 · 대한임상검사과학회지2004 · 제36권 제2호Genetics of Alzheimer's Disease김종헌대한치매학회 · Dementia and Neurocognitive Disorders(대한치매학회지)2018 · 제17권 제4호
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