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Early Onset Alzheimer’s Disease with Spastic Paraparesis, Dysarthria and Seizures and N135S Mutation in PSEN1

OBJECTIVE: Early onset familial Alzheimer’s disease (EOFAD) can be caused by mutations in genes for amyloid precursor protein (APP), presenilin 1 (PSEN1) or presenilin 2 (PSEN2). There is considerable phenotypic variability in EOFAD, including some patients with spastic paraparesis. The objective is...

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書誌詳細
主要な著者: Rudzinski, Leslie A., Fletcher, Rita M., Dickson, Dennis W., Crook, Richard, Hutton, Michael L., Adamson, Jennifer, Graff-Radford, Neill R.
フォーマット: Artigo
言語:Inglês
出版事項: 2008
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2750842/
https://ncbi.nlm.nih.gov/pubmed/18580586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/WAD.0b013e3181732399
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