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192 related items for PubMed ID: 35457051
1. Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings. Alvarez-Mora MI, Blanco-Palmero VA, Quesada-Espinosa JF, Arteche-Lopez AR, Llamas-Velasco S, Palma Milla C, Lezana Rosales JM, Gomez-Manjon I, Hernandez-Lain A, Jimenez Almonacid J, Gil-Fournier B, Ramiro-León S, González-Sánchez M, Herrero-San Martín AO, Pérez-Martínez DA, Gómez-Tortosa E, Carro E, Bartolomé F, Gomez-Rodriguez MJ, Sanchez-Calvin MT, Villarejo-Galende A, Moreno-Garcia M. Int J Mol Sci; 2022 Apr 11; 23(8):. PubMed ID: 35457051 [Abstract] [Full Text] [Related]
3. Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient. Le Guennec K, Tubeuf H, Hannequin D, Wallon D, Quenez O, Rousseau S, Richard AC, Deleuze JF, Boland A, Frebourg T, Gaildrat P, Campion D, Martins A, Nicolas G. J Alzheimers Dis; 2018 Apr 11; 62(2):821-831. PubMed ID: 29480197 [Abstract] [Full Text] [Related]
7. A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease. Verheijen J, Van den Bossche T, van der Zee J, Engelborghs S, Sanchez-Valle R, Lladó A, Graff C, Thonberg H, Pastor P, Ortega-Cubero S, Pastor MA, Benussi L, Ghidoni R, Binetti G, Clarimon J, Lleó A, Fortea J, de Mendonça A, Martins M, Grau-Rivera O, Gelpi E, Bettens K, Mateiu L, Dillen L, Cras P, De Deyn PP, Van Broeckhoven C, Sleegers K. Acta Neuropathol; 2016 Aug 11; 132(2):213-224. PubMed ID: 27026413 [Abstract] [Full Text] [Related]
8. SORL1 Variants in Familial Alzheimer's Disease. Gómez-Tortosa E, Ruggiero M, Sainz MJ, Villarejo-Galende A, Prieto-Jurczynska C, Venegas Pérez B, Ordás C, Agüero P, Guerrero-López R, Pérez-Pérez J. J Alzheimers Dis; 2018 Aug 11; 61(4):1275-1281. PubMed ID: 29376855 [Abstract] [Full Text] [Related]
9. Novel Rare SORL1 Variants in Early-Onset Dementia. Korpioja A, Krüger J, Koivuluoma S, Pylkäs K, Moilanen V, Helisalmi S, Hiltunen M, Remes AM. J Alzheimers Dis; 2021 Aug 11; 82(2):761-770. PubMed ID: 34092641 [Abstract] [Full Text] [Related]
10. Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy. Holstege H, van der Lee SJ, Hulsman M, Wong TH, van Rooij JG, Weiss M, Louwersheimer E, Wolters FJ, Amin N, Uitterlinden AG, Hofman A, Ikram MA, van Swieten JC, Meijers-Heijboer H, van der Flier WM, Reinders MJ, van Duijn CM, Scheltens P. Eur J Hum Genet; 2017 Aug 11; 25(8):973-981. PubMed ID: 28537274 [Abstract] [Full Text] [Related]
12. A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting. Fazeli E, Child DD, Bucks SA, Stovarsky M, Edwards G, Rose SE, Yu CE, Latimer C, Kitago Y, Bird T, Jayadev S, Andersen OM, Young JE. Acta Neuropathol; 2024 Jan 20; 147(1):20. PubMed ID: 38244079 [Abstract] [Full Text] [Related]
13. Influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease. Louwersheimer E, Ramirez A, Cruchaga C, Becker T, Kornhuber J, Peters O, Heilmann S, Wiltfang J, Jessen F, Visser PJ, Scheltens P, Pijnenburg YA, Teunissen CE, Barkhof F, van Swieten JC, Holstege H, Van der Flier WM, Alzheimer's Disease Neuroimaging Initiative and Dementia Competence Network. Neurobiol Aging; 2015 Mar 20; 36(3):1605.e13-20. PubMed ID: 25659857 [Abstract] [Full Text] [Related]
14. Impact of SORL1 single nucleotide polymorphisms on Alzheimer's disease cerebrospinal fluid markers. Alexopoulos P, Guo LH, Kratzer M, Westerteicher C, Kurz A, Perneczky R. Dement Geriatr Cogn Disord; 2011 Mar 20; 32(3):164-70. PubMed ID: 21997402 [Abstract] [Full Text] [Related]
15. SORL1 genetic variants and cerebrospinal fluid biomarkers of Alzheimer’s disease. Guo LH, Westerteicher C, Wang XH, Kratzer M, Tsolakidou A, Jiang M, Grimmer T, Laws SM, Alexopoulos P, Bujo H, Kurz A, Perneczky R. Eur Arch Psychiatry Clin Neurosci; 2012 Sep 20; 262(6):529-34. PubMed ID: 22286501 [Abstract] [Full Text] [Related]
16. Association of SORL1 gene variants with hippocampal and cerebral atrophy and Alzheimer's disease. Assareh AA, Piguet O, Lye TC, Mather KA, Broe GA, Schofield PR, Sachdev PS, Kwok JB. Curr Alzheimer Res; 2014 Sep 20; 11(6):558-63. PubMed ID: 24938503 [Abstract] [Full Text] [Related]