TY - GEN AU - Alvarez-Mora, Maria Isabel AU - Blanco-Palmero, Victor Antonio AU - Quesada-Espinosa, Juan Francisco AU - Arteche-Lopez, Ana Rosa AU - Llamas-Velasco, Sara AU - Palma Milla, Carmen AU - Lezana Rosales, Jose Miguel AU - Gomez-Manjon, Irene AU - Hernández-Laín, Aurelio AU - Jimenez Almonacid, Justino AU - Gil-Fournier, Belén AU - Ramiro-León, Soraya AU - González-Sánchez, Marta AU - Herrero-San Martín, Alejandro Octavio AU - Pérez-Martínez, David Andrés AU - Gómez-Tortosa, Estrella AU - Carro, Eva AU - Bartolomé, Fernando AU - Gomez-Rodriguez, Maria Jose AU - Sanchez-Calvin, María Teresa AU - Villarejo-Galende, Alberto AU - Moreno-Garcia, Marta PY - 2022 DO - 10.3390/ijms23084230 UR - http://hdl.handle.net/20.500.12105/15897 AB - 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... LA - eng PB - Multidisciplinary Digital Publishing Institute (MDPI) KW - Alzheimer KW - SORL1 KW - SorLA immunohistochemistry KW - Cerebral amyloid angiopathy KW - Homozygous case KW - Alzheimer Disease KW - Dementia KW - Genetic Predisposition to Disease KW - Humans KW - LDL-Receptor Related Proteins KW - Membrane Transport Proteins KW - Neuroimaging TI - Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings TY - research article ER -