An unexpected discovery of a novel potentially pathogenic APP gene variant: a case report of slowly progressive Alzheimer's disease with prominent cerebral amyloid angiopathy.
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| Title: | An unexpected discovery of a novel potentially pathogenic APP gene variant: a case report of slowly progressive Alzheimer's disease with prominent cerebral amyloid angiopathy. |
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| Authors: | Sykora M; Department of Neurology, Thomayer University Hospital, Prague, Czechia.; BrainBank, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Prague, Czechia.; Department of Pathology and Molecular Medicine, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Prague, Czechia., Harmackova M; Department of Neurology, Thomayer University Hospital, Prague, Czechia., Parobkova E; BrainBank, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Prague, Czechia.; Department of Pathology and Molecular Medicine, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Prague, Czechia., Rusina R; BrainBank, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Prague, Czechia.; Department of Neurology, Faculty of Medicine, Charles University and University Hospital Hradec Kralove, Prague, Czechia., Matěj R; BrainBank, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Prague, Czechia.; Department of Pathology and Molecular Medicine, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Prague, Czechia.; Department of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czechia. |
| Source: | Frontiers in neuroscience [Front Neurosci] 2026 Jan 02; Vol. 19, pp. 1703718. Date of Electronic Publication: 2026 Jan 02 (Print Publication: 2025). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1662-4548 |
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| DOI: | 10.3389/fnins.2025.1703718 |
