Heterozygous and Homozygous Variants in <i>SORL1</i> Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

Heterozygous and Homozygous Variants in <i>SORL1</i> Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

In the last few years, the <i>SORL1</i> 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...

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Bibliographic Details
Main Authors: Maria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa, Ana Rosa Arteche-Lopez, Sara Llamas-Velasco, Carmen Palma Milla, Jose Miguel Lezana Rosales, Irene Gomez-Manjon, Aurelio Hernandez-Lain, Justino Jimenez Almonacid, Belén Gil-Fournier, Soraya Ramiro-León, Marta González-Sánchez, Alejandro Octavio Herrero-San Martín, David Andrés Pérez-Martínez, Estrella Gómez-Tortosa, Eva Carro, Fernando Bartolomé, Maria Jose Gomez-Rodriguez, María Teresa Sanchez-Calvin, Alberto Villarejo-Galende, Marta Moreno-Garcia
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:International Journal of Molecular Sciences
Subjects:
SORL1
Alzheimer
homozygous case
cerebral amyloid angiopathy
SorLA immunohistochemistry
Online Access:https://www.mdpi.com/1422-0067/23/8/4230

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https://www.mdpi.com/1422-0067/23/8/4230

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