Novel Pathogenic Missense NF1-Variant Associated With Cognitive Impairment

참고문헌 (9)

1. Hoogmartens J, "Insight into the genetic etiology of Alzheimer’s disease : a comprehensive review of the role of rare variants", Alzheimers Dement(Amst), 13, pp.e12155~ (2021)
2. Blauwendraat C, "The wide genetic landscape of clinical frontotemporal dementia : systematic combined sequencing of 121 consecutive subjects", Genet Med, 20, pp.240~249 (2018)
3. Legius E, "Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome : an international consensus recommendation", Genet Med, 23, pp.1506~1513 (2021)
4. Kallionpää RA, "Increased risk for dementia in neurofibromatosis type 1", Genet Med, 23, pp.2219~2222 (2021)
5. 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)
6. Pasmant E, "Neurofibromatosis type 1 : from genotype to phenotype", J Med Genet, 49, pp.483~489 (2012)
7. Pavol M, "Neuropsychological function in adults with von Recklinghausen’s neurofibromatosis", Dev Neuropsychol, 29, pp.509~526 (2006)
8. Descheemaeker MJ, "Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group", J Intellect Disabil Res, 57, pp.874~886 (2013)
9. Gill DS, "Age-related findings on MRI in neurofibromatosis type 1", Pediatr Radiol, 36, pp.1048~1056 (2006)

관련 논문AI추천