HuGE Literature Finder
Records 1-30
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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 |
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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 |
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Genetics of dementia in a Finnish cohort.
European journal of human genetics : EJHG 2018 Feb . Pasanen Petra, Myllykangas Liisa, Pöyhönen Minna, Kiviharju Anna, Siitonen Maija, Hardy John, Bras Jose, Paetau Anders, Tienari Pentti J, Guerreiro Rita, Verkkoniemi-Ahola Au |
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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 |
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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 |
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The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul . Blauwendraat Cornelis, Wilke Carlo, Simón-Sánchez Javier, Jansen Iris E, Reifschneider Anika, Capell Anja, Haass Christian, Castillo-Lizardo Melissa, Biskup Saskia, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matth |
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Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.
Journal of Alzheimer's disease : JAD 2017 Jan . N'Songo Aurelie, Carrasquillo Minerva M, Wang Xue, Nguyen Thuy, Asmann Yan, Younkin Steven G, Allen Mariet, Duara Ranjan, Custo Maria T Greig, Graff-Radford Neill, Ertekin-Taner Nilüf |
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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, |
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Dura mater is a potential source of A? 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 |
Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.
Molecular psychiatry 2016 Feb . Herold C, Hooli B V, Mullin K, Liu T, Roehr J T, Mattheisen M, Parrado A R, Bertram L, Lange C, Tanzi R |
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Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing.
Neurobiology of aging 2016 Feb . Piccoli Elena, Rossi Giacomina, Rossi Tommaso, Pelliccioni Giuseppe, D'Amato Ilaria, Tagliavini Fabrizio, Di Fede Giusep |
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Evaluating pathogenic dementia variants in posterior cortical atrophy.
Neurobiology of aging 2015 Oct . Carrasquillo Minerva M, Barber Imelda, Lincoln Sarah J, Murray Melissa E, Camsari Gamze Balci, Khan Qurat Ul Ain, Nguyen Thuy, Ma Li, Bisceglio Gina D, Crook Julia E, Younkin Steven G, Dickson Dennis W, Boeve Bradley F, Graff-Radford Neill R, Morgan Kevin, Ertekin-Taner Nilüf |
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Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.
Neurobiology of aging 2015 Sep . Blauwendraat Cornelis, Wilke Carlo, Jansen Iris E, Schulte Claudia, Simón-Sánchez Javier, Metzger Florian G, Bender Benjamin, Gasser Thomas, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matth |
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Cerebrospinal fluid A?42 levels and APP processing pathway genes in Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2015 Jun 30 (7): 936-44. Bekris Lynn M, Tsuang Debby W, Peskind Elaine R, Yu Chang E, Montine Thomas J, Zhang Jing, Zabetian Cyrus P, Leverenz James |
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Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations.
Dementia and geriatric cognitive disorders 2015 39 (1-2): 32-40. Shi Zhihong, Wang Ying, Liu Shuai, Liu Mengyuan, Liu Shuling, Zhou Yuying, Wang Jinhuan, Cai Li, Huo Ya Ruth, Gao Shuo, Ji Yo |
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Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.
Neurobiology of aging 2014 Dec 35 (12): 2881.e1-6. Sassi Celeste, Guerreiro Rita, Gibbs Raphael, Ding Jinhui, Lupton Michelle K, Troakes Claire, Al-Sarraj Safa, Niblock Michael, Gallo Jean-Marc, Adnan Jihad, Killick Richard, Brown Kristelle S, Medway Christopher, Lord Jenny, Turton James, Bras Jose, , Morgan Kevin, Powell John F, Singleton Andrew, Hardy Jo |
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Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
Neurobiology of aging 2014 Oct 35 (10): 2422.e13-6. Sassi Celeste, Guerreiro Rita, Gibbs Raphael, Ding Jinhui, Lupton Michelle K, Troakes Claire, Lunnon Katie, Al-Sarraj Safa, Brown Kristelle S, Medway Chirstopher, Lord Jenny, Turton James, Mann David, Snowden Julie, Neary David, Harris Jeniffer, Bras Jose, , Morgan Kevin, Powell John F, Singleton Andrew, Hardy Jo |
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Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
Neurobiology of aging 2014 Aug 35 (8): 1957.e1-6. Jiao Bin, Tang Beisha, Liu Xiaoyan, Xu Jun, Wang Yanjiang, Zhou Lin, Zhang Fufeng, Yan Xinxiang, Zhou Yafang, Shen |
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Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing.
Neurobiology of aging 2014 Jul 35 (7): 1780.e1-5. Yagi Ryoichi, Miyamoto Ryosuke, Morino Hiroyuki, Izumi Yuishin, Kuramochi Masahito, Kurashige Takashi, Maruyama Hirofumi, Mizuno Noriyoshi, Kurihara Hidemi, Kawakami Hides |
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Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.
Neuroscience 2014 Jun 269 215-22. El Kadmiri N, Zaid N, Zaid Y, Tadevosyan A, Hachem A, Dubé M-P, Hamzi K, El Moutawakil B, Slassi I, Nadifi |
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Clinical and psychological characteristics of the initial cohort of the Dominantly Inherited Alzheimer Network (DIAN).
Neuropsychology 2014 Jan 28 (1): 19-29. Storandt Martha, Balota David A, Aschenbrenner Andrew J, Morris John |
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The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-?4 carriers.
PLoS genetics 2013 9 (8): e1003685. Benitez Bruno A, Karch Celeste M, Cai Yefei, Jin Sheng Chih, Cooper Breanna, Carrell David, Bertelsen Sarah, Chibnik Lori, Schneider Julie A, Bennett David A, , , Fagan Anne M, Holtzman David, Morris John C, Goate Alison M, Cruchaga Carl |
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TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ?3/?3.
Alzheimer's & dementia : the journal of the Alzheimer's Association 2012 Nov . Li G, Bekris LM, Leong L, Steinbart EJ, Shofer JB, Crane PK, Larson EB, Peskind ER, Bird TD, Yu CE |
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Presenilin-2 polymorphisms and risk of sporadic AD: evidence from a meta-analysis.
Gene 2012 Jul 503 (2): 194-9. Chen Chunhai, Zhou Zhou, Li Maoquan, Qu Mingyue, Ma Qinlong, Zhong Min, Zhang Yanwen, Yu Zhengpi |
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Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families.
PloS one 2012 7 (2): 2. Cruchaga C, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, Ehm MG, Mayeux R, Goate AM |
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Genetic variants in PSEN2 and correlation to CSF ?-amyloid42 levels in AD.
Neurobiology of aging 2012 Jan 33 (1): 201.e9-18. Lebedeva Elena, Stingl Julia C, Thal Dietmar R, Ghebremedhin Estifanos, Strauss Joachim, Özer Esra, Bertram Lars, von Einem Björn, Tumani Hayrettin, Otto Markus, Riepe Matthias W, Högel Josef, Ludolph Albert C, von Arnim Christine A |
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The role of variation at A?PP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.
Journal of Alzheimer's disease : JAD 2012 28 (2): 377-87. Gerrish Amy, Russo Giancarlo, Richards Alexander, Moskvina Valentina, Ivanov Dobril, Harold Denise, Sims Rebecca, Abraham Richard, Hollingworth Paul, Chapman Jade, Hamshere Marian, Pahwa Jaspreet Singh, Dowzell Kimberley, Williams Amy, Jones Nicola, Thomas Charlene, Stretton Alexandra, Morgan Angharad R, Lovestone Simon, Powell John, Proitsi Petroula, Lupton Michelle K, Brayne Carol, Rubinsztein David C, Gill Michael, Lawlor Brian, Lynch Aoibhinn, Morgan Kevin, Brown Kristelle S, Passmore Peter A, Craig David, McGuinness Bernadette, Todd Stephen, Johnston Janet A, Holmes Clive, Mann David, Smith A David, Love Seth, Kehoe Patrick G, Hardy John, Mead Simon, Fox Nick, Rossor Martin, Collinge John, Maier Wolfgang, Jessen Frank, Kölsch Heike, Heun Reinhard, Schürmann Britta, van den Bussche Hendrik, Heuser Isabella, Kornhuber Johannes, Wiltfang Jens, Dichgans Martin, Frölich Lutz, Hampel Harald, Hüll Michael, Rujescu Dan, Goate Alison M, Kauwe John S K, Cruchaga Carlos, Nowotny Petra, Morris John C, Mayo Kevin, Livingston Gill, Bass Nicholas J, Gurling Hugh, McQuillin Andrew, Gwilliam Rhian, Deloukas Panagiotis, Davies Gail, Harris Sarah E, Starr John M, Deary Ian J, Al-Chalabi Ammar, Shaw Christopher E, Tsolaki Magda, Singleton Andrew B, Guerreiro Rita, Mühleisen Thomas W, Nöthen Markus M, Moebus Susanne, Jöckel Karl-Heinz, Klopp Norman, Wichmann H-Erich, Carrasquillo Minerva M, Pankratz V Shane, Younkin Steven G, Jones Lesley, Holmans Peter A, O'Donovan Michael C, Owen Michael J, Williams Jul |
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Amyloid precursor protein (APP) processing genes and cerebrospinal fluid APP cleavage product levels in Alzheimer's disease.
Neurobiology of aging 2011 Mar 32 (3): 556.e13-23. Bekris L M, Galloway N M, Millard S, Lockhart D, Li G, Galasko D R, Farlow M R, Clark C M, Quinn J F, Kaye J A, Schellenberg G D, Leverenz J B, Seubert P, Tsuang D W, Peskind E R, Yu C |
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Genetic pathway-based hierarchical clustering analysis of older adults with cognitive complaints and amnestic mild cognitive impairment using clinical and neuroimaging phenotypes.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010 Jul 153B (5): 1060-9. Sloan Chantel D, Shen Li, West John D, Wishart Heather A, Flashman Laura A, Rabin Laura A, Santulli Robert B, Guerin Stephen J, Rhodes C Harker, Tsongalis Gregory J, McAllister Thomas W, Ahles Tim A, Lee Stephen L, Moore Jason H, Saykin Andrew |
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Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Neurobiology of aging 2010 May 31 (5): 725-31. Guerreiro Rita Joao, Baquero Miquel, Blesa Rafael, Boada Mercè, Brás Jose Miguel, Bullido Maria J, Calado Ana, Crook Richard, Ferreira Carla, Frank Ana, Gómez-Isla Teresa, Hernández Isabel, Lleó Alberto, Machado Alvaro, Martínez-Lage Pablo, Masdeu José, Molina-Porcel Laura, Molinuevo José L, Pastor Pau, Pérez-Tur Jordi, Relvas Rute, Oliveira Catarina Resende, Ribeiro Maria Helena, Rogaeva Ekaterina, Sa Alfredo, Samaranch Lluís, Sánchez-Valle Raquel, Santana Isabel, Tàrraga Lluís, Valdivieso Fernando, Singleton Andrew, Hardy John, Clarimón Jor |
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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 |
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Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men.
Dementia and geriatric cognitive disorders 2009 27 (1): 59-68. Giedraitis Vilmantas, Kilander Lena, Degerman-Gunnarsson Malin, Sundelöf Johan, Axelsson Tomas, Syvänen Ann-Christine, Lannfelt Lars, Glaser An |
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The association of the regulatory region of the presenilin-2 gene with Alzheimer's disease in the Northern Han Chinese population.
Journal of the neurological sciences 2008 Jan 264 (1-2): 38-42. Liu Zheng, Jia Jianpi |
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Two polymorphisms of presenilin-2 gene (PSEN2) 5' regulatory region are not associated with Alzheimer's disease (AD) in the Polish population.
Journal of neural transmission (Vienna, Austria : 1996) 2008 115 (1): 85-90. Gacia M, Safranow K, Gabryelewicz T, Styczy?ska M, Pep?o?ska B, Dziedziejko V, Jakubowska K, Chlubek D, Zekanowski C, Barcikowska |
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A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease.
Neuroscience letters 2007 May 418 (3): 282-5. Scacchi Renato, Gambina Giuseppe, Moretto Giuseppe, Corbo Rosa Mar |
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Genetic study of Sardinian patients with Alzheimer's disease.
Neuroscience letters 2006 May 398 (1-2): 124-8. Piscopo Paola, Manfredi Antonella, Malvezzi-Campeggi Lorenzo, Crestini Alessio, Spadoni Ornella, Cherchi Rossella, Deiana Emiliano, Piras Maria Rita, Confaloni Annamar |
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Polymorphism of the regulatory region of the presenilin-2 gene in sporadic Alzheimer's disease: a case-control study.
Journal of the neurological sciences 2006 Jan 240 (1-2): 71-5. Quan Wenxiang, Yasuda Minoru, Hashimoto Mamoru, Yamamoto Yasuji, Ishii Kazunari, Kazui Hiroaki, Mori Etsuro, Kakigi Tatsuya, Maeda Kiyos |
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Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia.
Current Alzheimer research 2004 Aug 1 (3): 215-8. Signorini S, Ghidoni R, Barbiero L, Benussi L, Binetti |
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Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.
Experimental neurology 2003 Dec 184 (2): 991-6. Zekanowski Cezary, Styczy?ska Maria, Pep?o?ska Beata, Gabryelewicz Tomasz, Religa Dorota, Ilkowski Jan, Kijanowska-Ha?adyna Beata, Kotapka-Minc S?awomira, Mikkelsen Sanne, Pfeffer Anna, Barczak Anna, ?uczywek Elzbieta, Wasiak Bogus?aw, Chodakowska-Zebrowska Ma?gorzata, Gustaw Katarzyna, ?aczkowski Jaros?aw, Sobów Tomasz, Ku?nicki Jacek, Barcikowska Mar |
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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 |
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Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.
Neuroscience letters 2003 Jun 343 (3): 210-2. Di Natale Manuela, Perri Maria, Kawarai Toshitaka, Maletta Raffaele, Tomaino Carmine, Sato Christine, Nacmias Benedetta, Shibata Nobuto, Sorbi Sandro, St George-Hyslop Peter H, Bruni Amalia C, Rogaeva Ekateri |
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Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Pozna? region.
Journal of applied genetics 2003 44 (2): 231-4. Kowalska Anna, Wender Mieczyslaw, Florczak Jolanta, Pruchnik-Wolinska Danuta, Modestowicz Renata, Szczech Józef, Rossa Grzegorz, Kozubski Wojcie |
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Evaluation of multiple presenilin 2 SNPs for association with early-onset sporadic Alzheimer disease.
American journal of medical genetics 2002 Aug 111 (2): 157-63. Howell W Mathias, Brookes Anthony |
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Regulatory region variability in the human presenilin-2 (PSEN2) gene: potential contribution to the gene activity and risk for AD.
Molecular psychiatry 2002 7 (8): 891-8. Riazanskaia N, Lukiw W J, Grigorenko A, Korovaitseva G, Dvoryanchikov G, Moliaka Y, Nicolaou M, Farrer L, Bazan N G, Rogaev |
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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 |
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Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease.
European journal of human genetics : EJHG 2001 Jun 9 (6): 437-44. Prince J A, Feuk L, Sawyer S L, Gottfries J, Ricksten A, Nägga K, Bogdanovic N, Blennow K, Brookes A |
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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 |
- Page last reviewed:Mar 16, 2019
- Page last updated:Apr 09, 2020
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