Work

Clinical and functional evidence supporting the pathogenicity of the novel PSEN1 p.R358P variant in early-onset Alzheimer's disease

Year: 2025

Type: article

Source: Journal of Alzheimer s Disease

DOI: 10.1177/13872877251392236

Authors: Diego E García-Chialva, Tatiana Itzcovich, Diego Cifarelli, Manuela Apecetche, Patricio Chrem-Méndez, Nahuel Magrath-Guimet, Silvia Vazquez, Yanina Bérgamo, Ricardo Allegri, Mariela Marazita, Gustavo E Sevlever, Luciana Isaja, Ezequiel I Surace, Leonardo Romorini

Institutions: Consejo Nacional de Investigaciones Científicas y Técnicas, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia, University of California, San Francisco, Global Brain Health Institute

Language: English

Topic: Alzheimer's disease research and treatments

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Consejo Nacional de Investigaciones Científicas y Técnicas

Award: G6495227198

OpenAlex ID: W4415974202

FWCI:

Cites: 34

Cited by:

Related to: