Human Genome Epidemiology Literature Finder
Records 1 - 22 (of 22 Records) |
Query Trace: Syndrome and APP[original query] |
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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 |
The impact of risk factors of Alzheimer's disease in the Down syndrome. International journal of molecular medicine 2003 1 11 (2): 267-70. Folin Marcella, Baiguera Silvia, Conconi Maria Teresa, Pati Tecla, Grandi Claudio, Parnigotto Pier Paolo, Nussdorfer Gastone |
Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease. American journal of human genetics 2006 Jun 78 (6): 936-46. Theuns Jessie, Brouwers Nathalie, Engelborghs Sebastiaan, Sleegers Kristel, Bogaerts Veerle, Corsmit Ellen, De Pooter Tim, van Duijn Cornelia M, De Deyn Peter P, Van Broeckhoven Christi |
Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome. Neuroscience letters 2007 Sep 425 (2): 105-9. Lee Joseph H, Chulikavit Maruit, Pang Deborah, Zigman Warren B, Silverman Wayne, Schupf Nico |
Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP). American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 Jun 144B (4): 469-74. Nowotny Petra, Simcock Xavier, Bertelsen Sarah, Hinrichs Anthony L, Kauwe John S K, Mayo Kevin, Smemo Scott, Morris John C, Goate Alis |
The extended tau haplotype and the age of onset of dementia in Down syndrome. Dementia and geriatric cognitive disorders 2008 26 (3): 199-202. Jones Emma L, Margallo-Lana Marisa, Prasher Vee P, Ballard Clive |
Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobiology of aging 2012 Feb 33 (2): 426.e13-21. McNaughton Daniel, Knight William, Guerreiro Rita, Ryan Natalie, Lowe Jessica, Poulter Mark, Nicholl David J, Hardy John, Revesz Tamas, Lowe James, Rossor Martin, Collinge John, Mead Sim |
An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome. International journal of Alzheimer's disease 2010 2011 929102. Jones Emma L, Ballard Clive G, Prasher Vee P, Arno Matthew, Tyrer Stephen, Moore Brian, Hanney Maria Lui |
APP mutations in the Aß coding region are associated with abundant cerebral deposition of Aß38. Acta neuropathologica 2012 Dec 124 (6): 809-21. Moro Maria Luisa, Giaccone Giorgio, Lombardi Raffaella, Indaco Antonio, Uggetti Andrea, Morbin Michela, Saccucci Stefania, Di Fede Giuseppe, Catania Marcella, Walsh Dominic M, Demarchi Andrea, Rozemuller Annemieke, Bogdanovic Nenad, Bugiani Orso, Ghetti Bernardino, Tagliavini Fabriz |
Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations. PloS one 2013 8 (7): e69614. Trolle Christian, Mortensen Kristian H, Pedersen Lisbeth N, Berglund Agnethe, Jensen Henrik K, Andersen Niels H, Gravholt Claus |
Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiology of aging 2014 Jun 35 (6): 1513.e1-5. Mok Kin Y, Jones Emma L, Hanney Marisa, Harold Denise, Sims Rebecca, Williams Julie, Ballard Clive, Hardy Jo |
Protein expression of targets of the FMRP regulon is altered in brains of subjects with schizophrenia and mood disorders. Schizophrenia research 2015 Jul 165 (2-3): 201-11. Folsom Timothy D, Thuras Paul D, Fatemi S Hosse |
Candidate gene analysis for Alzheimer's disease in adults with Down syndrome. Neurobiology of aging 2017 May . Lee Joseph H, Lee Annie J, Dang Lam-Ha, Pang Deborah, Kisselev Sergey, Krinsky-McHale Sharon J, Zigman Warren B, Luchsinger José A, Silverman Wayne, Tycko Benjamin, Clark Lorraine N, Schupf Nico |
Integrative Analysis to Identify Common Genetic Markers of Metabolic Syndrome, Dementia, and Diabetes. Medical science monitor : international medical journal of experimental and clinical research 2017 12 23 5885-5891. Zhang Weihong, Xin Linlin, Lu Yi |
Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease. Acta neuropathologica 2018 May . Mann David M A, Davidson Yvonne S, Robinson Andrew C, Allen Nancy, Hashimoto Tadafumi, Richardson Anna, Jones Matthew, Snowden Julie S, Pendleton Neil, Potier Marie-Claude, Laquerrière Annie, Prasher Vee, Iwatsubo Takeshi, Strydom And |
Web-Based Model for Predicting Time to Surgery in Young Patients with Familial Adenomatous Polyposis: An Internally Validated Study. The American journal of gastroenterology 2018 10 113 (12): 1881-1890. Sarvepalli Shashank, Burke Carol A, Monachese Marc, Lopez Rocio, Leach Brandie H, Laguardia Lisa, O?Malley Margaret, Kalady Matthew F, Church James |
Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH. Journal of genetics 2019 6 98 (2): . Ramírez-Velazco Azubel, Aguayo-Orozco Thania Alejandra, Figuera Luis, Rivera Horacio, Jave-Suárez Luis, Aguilar-Lemarroy Adriana, Torres-Reyes Luis A, Córdova-Fletes Carlos, Barros-Núñez Patricio, Delgadillo-Pérez Saturnino, Dávalos-Rodríguez Ingrid Patricia, García-Ortiz José Elías, Domínguez María |
Cerebrospinal fluid neuroplasticity-associated protein levels in patients with psychiatric disorders: a multiplex immunoassay study. Translational psychiatry 2020 5 10 (1): 161. Hidese Shinsuke, Hattori Kotaro, Sasayama Daimei, Tsumagari Takuya, Miyakawa Tomoko, Matsumura Ryo, Yokota Yuuki, Ishida Ikki, Matsuo Junko, Yoshida Sumiko, Ota Miho, Kunugi Hiros |
Digital biomarkers can highlight subtle clinical differences in radiologically isolated syndrome compared to healthy controls. Journal of neurology 2020 10 268 (4): 1316-1322. Cohen Mikael, Mondot Lydiane, Fakir Salim, Landes Cassandre, Lebrun Christi |
Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study. The Lancet. Neurology 2022 12 22 (1): 55-65. Boerwinkle Anna H, Gordon Brian A, Wisch Julie, Flores Shaney, Henson Rachel L, Butt Omar H, McKay Nicole, Chen Charles D, Benzinger Tammie L S, Fagan Anne M, Handen Benjamin L, Christian Bradley T, Head Elizabeth, Mapstone Mark, Rafii Michael S, O'Bryant Sid, Lai Florence, Rosas H Diana, Lee Joseph H, Silverman Wayne, Brickman Adam M, Chhatwal Jasmeer P, Cruchaga Carlos, Perrin Richard J, Xiong Chengjie, Hassenstab Jason, McDade Eric, Bateman Randall J, Ances Beau M, , |
A Randomized Controlled Trial of Precision Nutrition Counseling for Service Members at Risk for Metabolic Syndrome. Military medicine 2023 11 188 (Supplement_6): 606-613. Mary S McCarthy, Zachary T Colburn, Ka Yee Yeung, Laurel H Gillette, Ling-Hong Hung, Evelyn Elsh |
Transmembrane and coiled-coil 2 associates with Alzheimer's disease pathology in the human brain. Brain pathology (Zurich, Switzerland) 2024 7 e13290. Paul C R Hopkins, Claire Troakes, Andrew King, Guy Te |
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