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Article

Angela R.: a familial Alzheimer's disease case in the days of Auguste D.

Journal of neurology - 1 Dec 2016

Borrello Laura, Cupidi Chiara, Laganà Valentina, Anfossi Maria, Conidi Maria Elena, Smirne Nicoletta, Taverniti Maria, Guarasci Roberto, Bruni Amalia Cecilia

Abstract excerpt

The rebuilding of the N family, a large Italian kindred affected by early-onset autosomal dominant Alzheimer's disease (AD), provided an important contribution to the discovery of Presenilin 1 (PSEN1), the main gene responsible for familial AD. This pedigree was identified with the help of medical records from the archives of the Psychiatric Hospital of Girifalco, Italy. The clinical record of Angela R., an...

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Identifiers

PMID: 27730373
DOI: 10.1007/s00415-016-8294-x

Genes

PSEN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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