Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 36 Records) |
Query Trace: Dementia and SORL1[original query] |
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Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.
PLoS genetics 2014 Sep 10 (9): e1004606. Beecham Gary W, Hamilton Kara, Naj Adam C, Martin Eden R, Huentelman Matt, Myers Amanda J, Corneveaux Jason J, Hardy John, Vonsattel Jean-Paul, Younkin Steven G, Bennett David A, De Jager Philip L, Larson Eric B, Crane Paul K, Kamboh M Ilyas, Kofler Julia K, Mash Deborah C, Duque Linda, Gilbert John R, Gwirtsman Harry, Buxbaum Joseph D, Kramer Patricia, Dickson Dennis W, Farrer Lindsay A, Frosch Matthew P, Ghetti Bernardino, Haines Jonathan L, Hyman Bradley T, Kukull Walter A, Mayeux Richard P, Pericak-Vance Margaret A, Schneider Julie A, Trojanowski John Q, Reiman Eric M, , Schellenberg Gerard D, Montine Thomas |
Association of genetic risk factors with cognitive decline: the PATH through life project. Neurobiology of aging 2016 May 41 150-8. Andrews Shea J, Das Debjani, Cherbuin Nicolas, Anstey Kaarin J, Easteal Sim |
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease. Acta neuropathologica 2016 08 132 (2): 213-24. Verheijen Jan, Van den Bossche Tobi, van der Zee Julie, Engelborghs Sebastiaan, Sanchez-Valle Raquel, Lladó Albert, Graff Caroline, Thonberg Håkan, Pastor Pau, Ortega-Cubero Sara, Pastor Maria A, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Clarimon Jordi, Lleó Alberto, Fortea Juan, de Mendonça Alexandre, Martins Madalena, Grau-Rivera Oriol, Gelpi Ellen, Bettens Karolien, Mateiu Ligia, Dillen Lubina, Cras Patrick, De Deyn Peter P, Van Broeckhoven Christine, Sleegers Krist |
Alzheimer disease associated variants in SORL1 accelerate dementia development in Parkinson disease. Neuroscience letters 2018 3 674 123-126. Maple-Grødem Jodi, Chung Janete, Lunde Kristin Aaser, Tzoulis Charalampos, Tysnes Ole-Bjørn, Pedersen Kenn Freddy, Alves Gui |
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient. Journal of Alzheimer's disease : JAD 2018 62 (2): 821-831. Le Guennec Kilan, Tubeuf Hélène, Hannequin Didier, Wallon David, Quenez Olivier, Rousseau Stéphane, Richard Anne-Claire, Deleuze Jean-François, Boland Anne, Frebourg Thierry, Gaildrat Pascaline, Campion Dominique, Martins Alexandra, Nicolas Ga |
Analysis of cognitive performance and polymorphisms of SORL1, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU, and BIN1 in patients with mild cognitive impairment and cognitively healthy controls. Neurologia 2018 Nov . Cruz-Sanabria F, Bonilla-Vargas K, Estrada K, Mancera O, Vega E, Guerrero E, Ortega-Rojas J, Mahecha María F, Romero A, Montañés P, Celeita V, Arboleda H, Pardo |
SORL1 Variants in Familial Alzheimer's Disease. Journal of Alzheimer's disease : JAD 2018 1 61 (4): 1275-1281. Gómez-Tortosa Estrella, Ruggiero María, Sainz Ma José, Villarejo-Galende Alberto, Prieto-Jurczynska Cristina, Venegas Pérez Begoña, Ordás Carlos, Agüero Pablo, Guerrero-López Rosa, Pérez-Pérez Juli |
Mutation burden profile in familial Alzheimer's disease cases from India. Neurobiology of aging 2017 Dec . Syama Adhikarla, Sen Somdatta, Kota Lakshmi Narayanan, Viswanath Biju, Purushottam Meera, Varghese Mathew, Jain Sanjeev, Panicker Mitradas M, Mukherjee Odi |
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation. Neuropsychiatric disease and treatment 2019 8 15 2003-2013. Bagyinszky Eva, Kang Min Ju, Pyun Jungmin, Giau Vo Van, An Seong Soo A, Kim SangY |
Analysis of dementia-related gene variants in APOE ?4 noncarrying Korean patients with early-onset Alzheimer's disease. Neurobiology of aging 2019 6 85 155.e5-155.e8. Park Jong Eun, Kim Hee Jin, Kim Young-Eun, Jang Hyemin, Cho Soo Hyun, Kim Seung Joo, Na Duk L, Won Hong-Hee, Ki Chang-Seok, Seo Sang W |
A candidate gene study of risk for dementia in older, postmenopausal women: Results from the Women's Health Initiative Memory Study. International journal of geriatric psychiatry 2019 Jan . Driscoll Ira, Snively Beverly M, Espeland Mark A, Shumaker Sally A, Rapp Stephen R, Goveas Joseph S, Casanova Ramon L, Wactawski-Wende Jean, Manson JoAnn E, Rossom Rebecca, Brooks Janet, Hernandez Dena G, Singleton Andrew B, Resnick Susan |
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles. Cold Spring Harbor molecular case studies 2019 12 5 (6): . Cochran J Nicholas, McKinley Emily C, Cochran Meagan, Amaral Michelle D, Moyers Bryan A, Lasseigne Brittany N, Gray David E, Lawlor James M J, Prokop Jeremy W, Geier Ethan G, Holt James M, Thompson Michelle L, Newberry J Scott, Yokoyama Jennifer S, Worthey Elizabeth A, Geldmacher David S, Love Marissa Natelson, Cooper Gregory M, Myers Richard M, Roberson Erik |
[Genetic Analysis of Alzheimer's Disease: The Impact of Rare Variants and Their Significance]. Brain and nerve = Shinkei kenkyu no shinpo 2019 10 71 (10): 1071-1079. Miyashita Akinori, Liu Lixin, Hara Norika |
Genetic Study of Alzheimer's Disease in Saudi Population. Journal of Alzheimer's disease : JAD 2019 67 (1): 231-242. El Bitar Fadia, Qadi Najeeb, Al Rajeh Saad, Majrashi Amna, Abdulaziz Sara, Majrashi Nada, Al Inizi Maznah, Taher Asma, Al Tassan Na |
The APOE ?4 exerts differential effects on familial and other subtypes of Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 Sep . Jia Longfei, Xu Hui, Chen Shuoqi, Wang Xiu, Yang Jianwei, Gong Min, Wei Cuibai, Tang Yi, Qu Qiumin, Chu Lan, Shen Lu, Zhou Chunkui, Wang Qi, Zhao Tan, Zhou Aihong, Li Ying, Li Fangyu, Li Yan, Jin Hongmei, Qin Qi, Jiao Haishan, Li Yan, Zhang Heng, Lyu Diyang, Shi Yuqing, Song Yang, Jia Jianpi |
ADNC-RS, a clinical-genetic risk score, predicts Alzheimer's pathology in autopsy-confirmed Parkinson's disease and Dementia with Lewy bodies. Acta neuropathologica 2020 Aug . Dai David L, Tropea Thomas F, Robinson John L, Suh Eunran, Hurtig Howard, Weintraub Daniel, Van Deerlin Vivianna, Lee Edward B, Trojanowski John Q, Chen-Plotkin Alice |
Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population. Alzheimer's & dementia (Amsterdam, Netherlands) 2020 12 (1): e12074. Zhou Xiaopu, Chen Yu, Ip Fanny C F, Lai Nicole C H, Li Yolanda Y T, Jiang Yuanbing, Zhong Huan, Chen Yuewen, Zhang Yulin, Ma Shuangshuang, Lo Ronnie M N, Cheung Kit, Tong Estella P S, Ko Ho, Shoai Maryam, Mok Kin Y, Hardy John, Mok Vincent C T, Kwok Timothy C Y, Fu Amy K Y, Ip Nancy |
Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants. Neurobiology of aging 2020 Feb . Ramos-Campoy Oscar, Antonell Anna, Falgàs Neus, Balasa Mircea, Borrego-Écija Sergi, Rodríguez-Santiago Benjamín, Datta Debayan, Armengol Lluís, Fernández-Villullas Guadalupe, Bosch Beatriz, Olives Jaume, Muñoz-García Cristina, Castellví Magdalena, Tort-Merino Adrià, Sánchez-Valle Raquel, Lladó Albe |
Novel Rare SORL1 Variants in Early-Onset Dementia. Journal of Alzheimer's disease : JAD 2021 6 82 (2): 761-770. Korpioja Anita, Krüger Johanna, Koivuluoma Susanna, Pylkäs Katri, Moilanen Virpi, Helisalmi Seppo, Hiltunen Mikko, Remes Anne |
Risk Variants in Three Alzheimer's Disease Genes Show Association with EEG Endophenotypes. Journal of Alzheimer's disease : JAD 2021 Jan . Macedo Ana, Gómez Carlos, Rebelo Miguel Ângelo, Poza Jesús, Gomes Iva, Martins Sandra, Maturana-Candelas Aarón, Pablo Víctor Gutiérrez-de, Durães Luis, Sousa Patrícia, Figueruelo Manuel, Rodríguez María, Pita Carmen, Arenas Miguel, Álvarez Luis, Hornero Roberto, Lopes Alexandra M, Pinto Nád |
Analysis of cognitive performance and polymorphisms of SORL1, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU, and BIN1 in patients with mild cognitive impairment and cognitively healthy controls. Neurologia 0 36 (9): 681-691. Cruz-Sanabria F, Bonilla-Vargas K, Estrada K, Mancera O, Vega E, Guerrero E, Ortega-Rojas J, Mahecha María F, Romero A, Montañés P, Celeita V, Arboleda H, Pardo |
Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing. Frontiers in aging neuroscience 2021 11 13 745407. Sun Lin, Zhang Jianye, Su Ning, Zhang Shaowei, Yan Feng, Lin Xiang, Yu Jie, Li Wei, Li Xia, Xiao Shi |
Association and Gene-Gene Interactions Study of Late-Onset Alzheimer's Disease in the Russian Population. Genes 2021 Oct 12 (10): . Bocharova Anna, Vagaitseva Kseniya, Marusin Andrey, Zhukova Natalia, Zhukova Irina, Minaycheva Larisa, Makeeva Oksana, Stepanov Vad |
Generation of two iPSC lines (UMi038-A & UMi039-A) from siblings bearing an Alzheimer's disease-associated variant in SORL1. Stem cell research 2022 6 62 102823. DeRosa Brooke A, Simon Shaina A, Velez Christina A, Vance Jeffery M, Pericak-Vance Margaret A, Dykxhoorn Derek |
Genetic landscape of early-onset dementia in Hungary. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 Jun . Csaban Dora, Illes Anett, Renata Toth-Bencsik, Balicza Peter, Pentelenyi Klara, Molnar Viktor, Gezsi Andras, Grosz Zoltan, Gal Aniko, Kovacs Tibor, Klivenyi Peter, Molnar Maria Jud |
Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families. Alzheimer's research & therapy 2022 Jun 14 (1): 77. Mol Merel O, van der Lee Sven J, Hulsman Marc, Pijnenburg Yolande A L, Scheltens Phillip, , Seelaar Harro, van Swieten John C, Kaat Laura Donker, Holstege Henne, van Rooij Jeroen G |
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. Nature genetics 2022 11 54 (12): 1786-1794. Holstege Henne, Hulsman Marc, Charbonnier Camille, Grenier-Boley Benjamin, Quenez Olivier, Grozeva Detelina, van Rooij Jeroen G J, Sims Rebecca, Ahmad Shahzad, Amin Najaf, Norsworthy Penny J, Dols-Icardo Oriol, Hummerich Holger, Kawalia Amit, Amouyel Philippe, Beecham Gary W, Berr Claudine, Bis Joshua C, Boland Anne, Bossù Paola, Bouwman Femke, Bras Jose, Campion Dominique, Cochran J Nicholas, Daniele Antonio, Dartigues Jean-François, Debette Stéphanie, Deleuze Jean-François, Denning Nicola, DeStefano Anita L, Farrer Lindsay A, Fernández Maria Victoria, Fox Nick C, Galimberti Daniela, Genin Emmanuelle, Gille Johan J P, Le Guen Yann, Guerreiro Rita, Haines Jonathan L, Holmes Clive, Ikram M Arfan, Ikram M Kamran, Jansen Iris E, Kraaij Robert, Lathrop Marc, Lemstra Afina W, Lleó Alberto, Luckcuck Lauren, Mannens Marcel M A M, Marshall Rachel, Martin Eden R, Masullo Carlo, Mayeux Richard, Mecocci Patrizia, Meggy Alun, Mol Merel O, Morgan Kevin, Myers Richard M, Nacmias Benedetta, Naj Adam C, Napolioni Valerio, Pasquier Florence, Pastor Pau, Pericak-Vance Margaret A, Raybould Rachel, Redon Richard, Reinders Marcel J T, Richard Anne-Claire, Riedel-Heller Steffi G, Rivadeneira Fernando, Rousseau Stéphane, Ryan Natalie S, Saad Salha, Sanchez-Juan Pascual, Schellenberg Gerard D, Scheltens Philip, Schott Jonathan M, Seripa Davide, Seshadri Sudha, Sie Daoud, Sistermans Erik A, Sorbi Sandro, van Spaendonk Resie, Spalletta Gianfranco, Tesi Niccolo', Tijms Betty, Uitterlinden André G, van der Lee Sven J, Visser Pieter Jelle, Wagner Michael, Wallon David, Wang Li-San, Zarea Aline, Clarimon Jordi, van Swieten John C, Greicius Michael D, Yokoyama Jennifer S, Cruchaga Carlos, Hardy John, Ramirez Alfredo, Mead Simon, van der Flier Wiesje M, van Duijn Cornelia M, Williams Julie, Nicolas Gaël, Bellenguez Céline, Lambert Jean-Charl |
Multiple gene variants linked to Alzheimer's-type clinical dementia via GWAS are also associated with non-Alzheimer's neuropathologic entities. Neurobiology of disease 2022 10 174 105880. Katsumata Yuriko, Shade Lincoln M, Hohman Timothy J, Schneider Julie A, Bennett David A, Farfel Jose M, , Kukull Walter A, Fardo David W, Nelson Peter |
Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia. Scientific reports 2023 2 13 (1): 2179. Wightman Douglas P, Savage Jeanne E, de Leeuw Christiaan A, Jansen Iris E, Posthuma Daniel |
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 10 1-11. Cathrine Goberg Olsen, Øyvind Løvold Busk, Øystein Lunde Holla, Kristian Tveten, Trygve Holmøy, Ole-Bjørn Tysnes, Helle Høy |
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