Phenotype and imaging features associated with APP duplications.

doi:10.1186/s13195-023-01172-2

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Phenotype and imaging features associated with APP duplications.

Alzheimer's research & therapy - 11 May 2023

Grangeon Lou, Charbonnier Camille, Zarea Aline, Rousseau Stephane, Rovelet-Lecrux Anne, Bendetowicz David, Lemaitre Marion, Malrain Cécile, Quillard-Muraine Muriel, Cassinari Kevin, Maltete David, Pariente Jeremie, Moreaud Olivier, Magnin Eloi, Cretin Benjamin, Mackowiak Marie-Anne, Sillaire Adeline Rollin, Vercelletto Martine, Dionet Elsa, Felician Olivier, Rod-Olivieri Pauline, Thomas-Antérion Catherine, Godeneche Gaelle, Sauvée Mathilde, Cartz-Piver Leslie, Le Ber Isabelle, Chauvire Valérie, Jonveaux Therèse, Balageas Anna-Chloé, Laquerriere Annie, Duyckaerts Charles, Vital Anne, de Paula Andre Maues, Meyronet David, Guyant-Marechal Lucie, Hannequin Didier, Tournier-Lasserve Elisabeth, Campion Dominique, Nicolas Gaël, Wallon David

Abstract excerpt

BACKGROUND: APP duplication is a rare genetic cause of Alzheimer disease and cerebral amyloid angiopathy (CAA). We aimed to evaluate the phenotypes of APP duplications carriers. METHODS: Clinical, radiological, and neuropathological features of 43 APP duplication carriers from 24 French families were retrospectively analyzed, and MRI features and cerebrospinal fluid (CSF) biomarkers were compared to 40...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Alzheimer Disease

Share to Amyloid

Share to Cerebral Amyloid Angiopathy

Share to Cerebral Hemorrhage

Share to Cerebrospinal fluid and hydrocephalus

Share to Intracerebral and Subarachnoid Hemorrhage Research

Share to Magnetic Resonance Imaging

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 37170141
DOI: 10.1186/s13195-023-01172-2
PMCID: PMC10173644

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype and imaging features associated with APP duplications.PMID 37170141Read ↗

Phenotype associated with APP duplication in five families.Semantic proximity Read ↗

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.Semantic proximity Read ↗

No evidence of APP point mutation and locus duplication in individuals with cerebral amyloid angiopathy.Semantic proximity Read ↗

APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage.Semantic proximity Read ↗

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathySemantic proximity Read ↗

Clinical phenotypes of Cerebral Amyloid Angiopathy.Semantic proximity Read ↗

Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus TriplicationSemantic proximity Read ↗

Prominent amyloid plaque pathology and cerebral amyloid angiopathy in APP V717I (London) carrier - phenotypic variability in autosomal dominant Alzheimer's disease.Semantic proximity Read ↗

Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy.Semantic proximity Read ↗

Clinical considerations in early-onset cerebral amyloid angiopathy.Semantic proximity Read ↗

An APP mutation family exhibiting white matter hyperintensities and cortical calcification in East China.Semantic proximity Read ↗

A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.