Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2017.04.012
Abstract: In the present study, a novel mutation in exon 7 of presenilin 1 (Leu232Pro) was discovered in a Korean patient with early-onset Alzheimer's disease, who represented memory decline at 37 years of age, followed by impairment… read more here.
Keywords: early onset; psen1; patient early; onset alzheimer ... See more keywords
Ischemic Proliferative Retinopathy in a Korean Patient with Cutis Marmorata Telangiectatica Congenita: A Case Report
Sign Up to like & getrecommendations! Published in 2022 at "Korean Journal of Ophthalmology : KJO"
DOI: 10.3341/kjo.2022.0107
Abstract: Dear Editor, Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular anomaly, clinically diagnosed based on cutaneous features [1]. It is characterized by congenital persistent reticular erythema, that does not respond to local warming,… read more here.
Keywords: ischemic proliferative; case; korean patient; examination ... See more keywords