Human Genome Epidemiology Literature Finder
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Records 1 - 25 (of 25 Records) |
| Query Trace: Alzheimer Disease and PSEN1[original query] |
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| Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. American journal of medical genetics 2001 Oct 103 (2): 138-43. Arango D, Cruts M, Torres O, Backhovens H, Serrano M L, Villareal E, Montañes P, Matallana D, Cano C, Van Broeckhoven C, Jacquier |
| A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. Archives of neurology 2003 Aug 60 (8): 1149-51. Ezquerra Mario, Lleó Alberto, Castellví Magda, Queralt Rosa, Santacruz Pilar, Pastor Pau, Molinuevo José Luis, Blesa Rafael, Oliva Rafa |
| Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nature genetics 2007 Jan 39 (1): 17-23. Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE |
| High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types. Archives of neurology 2009 Dec 66 (12): 1537-44. Villemagne Victor L, Ataka Suzuka, Mizuno Toshiki, Brooks William S, Wada Yasuhiro, Kondo Masaki, Jones Gareth, Watanabe Yasuyoshi, Mulligan Rachel, Nakagawa Masanori, Miki Takami, Shimada Hiroyuki, O'Keefe Graeme J, Masters Colin L, Mori Hiroshi, Rowe Christopher |
| Loss of function of ATXN1 increases amyloid beta-protein levels by potentiating beta-secretase processing of beta-amyloid precursor protein. The Journal of biological chemistry 2010 1 285 (12): 8515-26. Zhang Can, Browne Andrew, Child Daniel, Divito Jason R, Stevenson Jesse A, Tanzi Rudolph |
| Molecular genetic analysis of the APP, PSEN1, and PSEN2 genes in Finnish patients with early-onset Alzheimer disease and frontotemporal lobar degeneration. Alzheimer disease and associated disorders 0 26 (3): 272-6. Krüger Johanna, Moilanen Virpi, Majamaa Kari, Remes Anne |
| C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. JAMA neurology 2013 Jun 70 (6): 736-41. Harms Matthew, Benitez Bruno A, Cairns Nigel, Cooper Breanna, Cooper Paul, Mayo Kevin, Carrell David, Faber Kelley, Williamson Jennifer, Bird Tom, Diaz-Arrastia Ramon, Foroud Tatiana M, Boeve Bradley F, Graff-Radford Neill R, Mayeux Richard, Chakraverty Sumitra, Goate Alison M, Cruchaga Carlos, |
| C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. American journal of neurodegenerative disease 2012 1 (1): 1. Wojtas A, Heggeli KA, Finch N, Baker M, Dejesus-Hernandez M, Younkin SG, Dickson DW, Graff-Radford NR, Rademakers R |
| No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer disease in a Tunisian population. Journal of neural transmission (Vienna, Austria : 1996) 2013 Jan . Rassas AA, Fredj SH, Khiari HM, Sahnoun S, Bibi A, Siala H, Mrabet A, Messaoud T |
| De novo deleterious genetic variations target a biological network centered on Aß peptide in early-onset Alzheimer disease. Molecular psychiatry 2015 Sep 20 (9): 1046-56. Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman M N J, Pottier C, Breusegem S Y, Mathur P P, Jenardhanan P, Le Guennec K, Mukadam A S, Quenez O, Coutant S, Rousseau S, Richard A-C, Boland A, Deleuze J-F, Frebourg T, Hannequin D, Campion |
| Seizures in dominantly inherited Alzheimer disease. Neurology 2016 Aug 87 (9): 912-9. Zarea Aline, Charbonnier Camille, Rovelet-Lecrux Anne, Nicolas Gaël, Rousseau Stéphane, Borden Alaina, Pariente Jeremie, Le Ber Isabelle, Pasquier Florence, Formaglio Maite, Martinaud Olivier, Rollin-Sillaire Adeline, Sarazin Marie, Croisile Bernard, Boutoleau-Bretonnière Claire, Ceccaldi Mathieu, Gabelle Audrey, Chamard Ludivine, Blanc Frédéric, Sellal François, Paquet Claire, Campion Dominique, Hannequin Didier, Wallon David, |
| Dura mater is a potential source of Aß seeds. Acta neuropathologica 2016 Mar . Kovacs Gabor G, Lutz Mirjam I, Ricken Gerda, Ströbel Thomas, Höftberger Romana, Preusser Matthias, Regelsberger Günther, Hönigschnabl Selma, Reiner Angelika, Fischer Peter, Budka Herbert, Hainfellner Johannes |
| Cognitive Decline in a Colombian Kindred With Autosomal Dominant Alzheimer Disease: A Retrospective Cohort Study. JAMA neurology 2016 Feb . Aguirre-Acevedo Daniel C, Lopera Francisco, Henao Eliana, Tirado Victoria, Muñoz Claudia, Giraldo Margarita, Bangdiwala Shrikant I, Reiman Eric M, Tariot Pierre N, Langbaum Jessica B, Quiroz Yakeel T, Jaimes Fabi |
| Presymptomatic cortical thinning in familial Alzheimer disease: A longitudinal MRI study. Neurology 2016 Oct . Weston Philip S J, Nicholas Jennifer M, Lehmann Manja, Ryan Natalie S, Liang Yuying, Macpherson Kirsty, Modat Marc, Rossor Martin N, Schott Jonathan M, Ourselin Sebastien, Fox Nick |
| Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport. JAMA neurology 2017 Jul . Kunkle Brian W, Vardarajan Badri N, Naj Adam C, Whitehead Patrice L, Rolati Sophie, Slifer Susan, Carney Regina M, Cuccaro Michael L, Vance Jeffery M, Gilbert John R, Wang Li-San, Farrer Lindsay A, Reitz Christiane, Haines Jonathan L, Beecham Gary W, Martin Eden R, Schellenberg Gerard D, Mayeux Richard P, Pericak-Vance Margaret |
| Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease. PLoS genetics 2017 Nov 13 (11): e1007045. Fernández Maria Victoria, Kim Jong Hun, Budde John P, Black Kathleen, Medvedeva Alexandra, Saef Ben, Deming Yuetiva, Del-Aguila Jorge, Ibañez Laura, Dube Umber, Harari Oscar, Norton Joanne, Chasse Rachel, Morris John C, Goate Alison, , , Cruchaga Carl |
| Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration. Neurology 2017 10 89 (21): 2167-2175. Weston Philip S J, Poole Teresa, Ryan Natalie S, Nair Akshay, Liang Yuying, Macpherson Kirsty, Druyeh Ronald, Malone Ian B, Ahsan R Laila, Pemberton Hugh, Klimova Jana, Mead Simon, Blennow Kaj, Rossor Martin N, Schott Jonathan M, Zetterberg Henrik, Fox Nick |
| Clinical exome sequencing in dementias: a preliminary study. Psychiatria Danubina 2018 Jun 30 (2): 216-219. Zalar Bojan, Maver Aleš, Kovanda Ana, Peterlin Ana, Peterlin Bor |
| Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease. Frontiers in neuroscience 2018 12 230. Ibanez Laura, Dube Umber, Davis Albert A, Fernandez Maria V, Budde John, Cooper Breanna, Diez-Fairen Monica, Ortega-Cubero Sara, Pastor Pau, Perlmutter Joel S, Cruchaga Carlos, Benitez Bruno |
| Association of Early-Onset Alzheimer Disease With Elevated Low-Density Lipoprotein Cholesterol Levels and Rare Genetic Coding Variants of APOB. JAMA neurology 2019 May . Wingo Thomas S, Cutler David J, Wingo Aliza P, Le Ngoc-Anh, Rabinovici Gil D, Miller Bruce L, Lah James J, Levey Allan |
| Alternative splicing in a presenilin 2 variant associated with Alzheimer disease. Annals of clinical and translational neurology 2019 4 6 (4): 762-777. Braggin Jacquelyn E, Bucks Stephanie A, Course Meredith M, Smith Carole L, Sopher Bryce, Osnis Leah, Shuey Kiel D, Domoto-Reilly Kimiko, Caso Christina, Kinoshita Chizuru, Scherpelz Kathryn P, Cross Chloe, Grabowski Thomas, Nik Seyyed H M, Newman Morgan, Garden Gwenn A, Leverenz James B, Tsuang Debby, Latimer Caitlin, Gonzalez-Cuyar Luis F, Keene Christopher Dirk, Morrison Richard S, Rhoads Kristoffer, Wijsman Ellen M, Dorschner Michael O, Lardelli Michael, Young Jessica E, Valdmanis Paul N, Bird Thomas D, Jayadev Sum |
| Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease. Neurobiology of aging 2019 Jan 77 154-157. Gao Ying, Ren Ru-Jing, Zhong Zi-Lin, Dammer Eric, Zhao Qian-Hua, Shan Shan, Zhou Zheng, Li Xia, Zhang Yue-Qi, Cui Hai-Lun, Hu Yong-Bo, Chen Sheng-Di, Chen Jian-Jun, Guo Qi-Hao, Wang Ga |
| Quality of life in early-onset Alzheimer's disease due to a PSEN1-E280A mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 3 42 (11): 4637-4645. Vasquez Daniel, Castrillón Melissa Sierra, Vega Manuela Gomez, Henck Clara Gomez, Aguillon David, Garcia-Cifuentes Elkin, Jaramillo-Jimenez Alberto, Velez Juan Esteban, Madrigal Lucia, Lopera Francis |
| Evaluation of the Clinical Features Accompanied by the Gene Mutations: The 2 Novel PSEN1 Variants in a Turkish Early-onset Alzheimer Disease Cohort. Alzheimer disease and associated disorders 2021 3 35 (3): 214-222. Eryilmaz Isil E, Bakar Mustafa, Egeli Unal, Cecener Gulsah, Yurdacan Beste, Colak Dilara K, Tunca Berr |
| Comorbidities in early-onset sporadic versus presenilin-1 mutation-associated Alzheimer disease dementia: Evidence for dependency on Alzheimer disease neuropathological changes. Journal of neuropathology and experimental neurology 2024 12 . Diego Sepulveda-Falla, Carlos Andrés Villegas Lanau, Charles White Iii, Geidy E Serrano, Juliana Acosta-Uribe, Barbara Mejía-Cupajita, Nelson David Villalba-Moreno, Pinzhang Lu, Markus Glatzel, Julia K Kofler, Bernardino Ghetti, Matthew P Frosch, Francisco Lopera Restrepo, Kenneth S Kosik, Thomas G Bea |
- Page last reviewed:Feb 1, 2024
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