Article
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
International journal of molecular sciences - 11 Apr 2022
Alvarez-Mora Maria Isabel, Blanco-Palmero Victor Antonio, Quesada-Espinosa Juan Francisco, Arteche-Lopez Ana Rosa, Llamas-Velasco Sara, Palma Milla Carmen, Lezana Rosales Jose Miguel, Gomez-Manjon Irene, Hernandez-Lain Aurelio, Jimenez Almonacid Justino, Gil-Fournier Belén, Ramiro-León Soraya, González-Sánchez Marta, Herrero-San Martín Alejandro Octavio, Pérez-Martínez David Andrés, Gómez-Tortosa Estrella, Carro Eva, Bartolomé Fernando, Gomez-Rodriguez Maria Jose, Sanchez-Calvin María Teresa, Villarejo-Galende Alberto, Moreno-Garcia Marta
Abstract excerpt
In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole-exome sequencing on 37 patients with early-onset dementia or family history suggestive of autosomal dominant dementia. Data analysis was based on a custom panel that included 46 genes related to AD and dementia. SORL1 variants were present in a high proportion of patients with...
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