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• W2024698562 abstract "Early-onset Alzheimer's disease (EOAD) represents 1%–2% of the Alzheimer's disease (AD) cases, and it is generally characterized by a positive family history and a rapidly progressive symptomatology. Rare coding and fully penetrant variants in amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are the only causative mutations reported for autosomal dominant AD. Thus, in this study we used exome sequencing data to rapidly screen rare coding variability in APP, PSEN1, and PSEN2, in a British cohort composed of 47 unrelated EOAD cases and 179 elderly controls, neuropathologically proven. We report 2 novel and likely pathogenic variants in PSEN1 (p.L166V and p.S230R). A comprehensive catalog of rare pathogenic variants in the AD Mendelian genes is pivotal for a premortem diagnosis of autosomal dominant EOAD and for the differential diagnosis with other early onset dementias such as frontotemporal dementia (FTD) and Creutzfeldt-Jakob disease (CJD)." @default.
• W2024698562 created "2016-06-24" @default.
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• W2024698562 date "1999-05-01" @default.
• W2024698562 modified "2023-09-27" @default.
• W2024698562 title "Is there a standard chemotherapeutic strategy in colorectal cancer?" @default.
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• W2024698562 doi "https://doi.org/10.1016/s1040-8428(98)00041-9" @default.
• W2024698562 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10439068" @default.
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