Human Genome Epidemiology Literature Finder
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Records 1 - 28 (of 28 Records) |
| Query Trace: Frontotemporal Dementia and TREM2[original query] |
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| Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia. Neurobiology of aging 2014 Feb 35 (2): 444.e1-4. Ruiz Agustín, Dols-Icardo Oriol, Bullido María J, Pastor Pau, Rodríguez-Rodríguez Eloy, López de Munain Adolfo, de Pancorbo Marian M, Pérez-Tur Jordi, Alvarez Victoria, Antonell Anna, López-Arrieta Jesús, Hernández Isabel, Tárraga Lluís, Boada Mercè, Lleó Alberto, Blesa Rafael, Frank-García Ana, Sastre Isabel, Razquin Cristina, Ortega-Cubero Sara, Lorenzo Elena, Sánchez-Juan Pascual, Combarros Onofre, Moreno Fermín, Gorostidi Ana, Elcoroaristizabal Xabier, Baquero Miquel, Coto Eliecer, Sánchez-Valle Raquel, Clarimón Jordi, |
| TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Molecular neurodegeneration 2013 8 19. Rayaprolu Sruti, Mullen Bianca, Baker Matt, Lynch Timothy, Finger Elizabeth, Seeley William W, Hatanpaa Kimmo J, Lomen-Hoerth Catherine, Kertesz Andrew, Bigio Eileen H, Lippa Carol, Josephs Keith A, Knopman David S, White Charles L, Caselli Richard, Mackenzie Ian R, Miller Bruce L, Boczarska-Jedynak Magdalena, Opala Grzegorz, Krygowska-Wajs Anna, Barcikowska Maria, Younkin Steven G, Petersen Ronald C, Ertekin-Taner Nilüfer, Uitti Ryan J, Meschia James F, Boylan Kevin B, Boeve Bradley F, Graff-Radford Neill R, Wszolek Zbigniew K, Dickson Dennis W, Rademakers Rosa, Ross Owen |
| TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia. Neurobiology of aging 2013 Oct 34 (10): 2443.e1-2. Lattante Serena, Le Ber Isabelle, Camuzat Agnès, Dayan Sarah, Godard Chloé, Van Bortel Inge, De Septenville Anne, Ciura Sorana, Brice Alexis, Kabashi Edor, |
| Heterozygous TREM2 mutations in frontotemporal dementia. Neurobiology of aging 2014 Apr 35 (4): 934.e7-10. Borroni Barbara, Ferrari Francesca, Galimberti Daniela, Nacmias Benedetta, Barone Cinzia, Bagnoli Silvia, Fenoglio Chiara, Piaceri Irene, Archetti Silvana, Bonvicini Cristian, Gennarelli Massimo, Turla Marinella, Scarpini Elio, Sorbi Sandro, Padovani Alessand |
| Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia. Neurobiology of aging 2014 Mar 35 (3): 726.e11-9. Cuyvers Elise, Bettens Karolien, Philtjens Stéphanie, Van Langenhove Tim, Gijselinck Ilse, van der Zee Julie, Engelborghs Sebastiaan, Vandenbulcke Mathieu, Van Dongen Jasper, Geerts Nathalie, Maes Githa, Mattheijssens Maria, Peeters Karin, Cras Patrick, Vandenberghe Rik, De Deyn Peter P, Van Broeckhoven Christine, Cruts Marc, Sleegers Kristel, |
| R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia. Alzheimer's & dementia : the journal of the Alzheimer's Association 2014 Nov 10 (6): 602-608.e4. Slattery Catherine F, Beck Jonathan A, Harper Lorna, Adamson Gary, Abdi Zeinab, Uphill James, Campbell Tracy, Druyeh Ron, Mahoney Colin J, Rohrer Jonathan D, Kenny Janna, Lowe Jessica, Leung Kelvin K, Barnes Josephine, Clegg Shona L, Blair Melanie, Nicholas Jennifer M, Guerreiro Rita J, Rowe James B, Ponto Claudia, Zerr Inga, Kretzschmar Hans, Gambetti Pierluigi, Crutch Sebastian J, Warren Jason D, Rossor Martin N, Fox Nick C, Collinge John, Schott Jonathan M, Mead Sim |
| Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes. Neurobiology of aging 2014 Nov 35 (11): 2657.e13-9. Thelen Mathias, Razquin Cristina, Hernández Isabel, Gorostidi Ana, Sánchez-Valle Raquel, Ortega-Cubero Sara, Wolfsgruber Steffen, Drichel Dmitriy, Fliessbach Klaus, Duenkel Tanja, Damian Marinella, Heilmann Stefanie, Slotosch Anja, Lennarz Martina, Seijo-Martínez Manuel, Rene Ramón, Kornhuber Johannes, Peters Oliver, Luckhaus Christian, Jahn Holger, Hüll Michael, Rüther Eckart, Wiltfang Jens, Lorenzo Elena, Gascon Jordi, Lleó Alberto, Lladó Albert, Campdelacreu Jaume, Moreno Fermin, Ahmadzadehfar Hojjat, , Fortea Juan, Indakoetxea Begoña, Heneka Michael T, Wetter Axel, Pastor Maria A, Riverol Mario, Becker Tim, Frölich Lutz, Tárraga Lluís, Boada Mercè, Wagner Michael, Jessen Frank, Maier Wolfgang, Clarimón Jordi, López de Munain Adolfo, Ruiz Agustín, Pastor Pau, Ramirez Alfre |
| 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 |
| Association study of TREM2 polymorphism rs75932628 with leucoaraiosis or Parkinson's disease in the Han Chinese population. BMJ open 2016 6 (1): e009499. Li Zhiming, Zhong Li, Gu Long, Huang Wenqing, Shi Xinzhen, Zhang Xilin, An Xingkai, Lin Qing, Tzeng Chi-Me |
| Mutations in TYROBP are not a common cause of dementia in a Turkish cohort. Neurobiology of aging 2017 Jun . Darwent Lee, Carmona Susana, Lohmann Ebba, Guven Gamze, Kun-Rodrigues Celia, Bilgic Basar, Hanagasi Hasmet, Gurvit Hakan, Erginel-Unaltuna Nihan, Pak Meltem, Hardy John, Singleton Andrew, Brás Jose, Guerreiro Ri |
| Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup. Alzheimer's research & therapy 2018 8 10 (1): 79. Woollacott Ione O C, Nicholas Jennifer M, Heslegrave Amanda, Heller Carolin, Foiani Martha S, Dick Katrina M, Russell Lucy L, Paterson Ross W, Keshavan Ashvini, Fox Nick C, Warren Jason D, Schott Jonathan M, Zetterberg Henrik, Rohrer Jonathan |
| Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement. Neurobiology of aging 2018 Apr . Ng Adeline S L, Tan Yi Jayne, Yi Zhao, Tandiono Moses, Chew Elaine, Dominguez Jacqueline, Macas Mabel, Ng Ebonne, Hameed Shahul, Ting Simon, Tan Eng King, Foo Jia Nee, Kandiah Nagaendr |
| TREM2 variants in neurodegenerative disorders in the Polish population. Homozygosity and compound heterozygosity in FTD patients. Amyotrophic lateral sclerosis & frontotemporal degeneration 2018 Mar 1-6. Peplonska Beata, Berdynski Mariusz, Mandecka Monika, Barczak Anna, Kuzma-Kozakiewicz Magdalena, Barcikowska Maria, Zekanowski Ceza |
| Heterozygous TYROBP deletion (PLOSL) is not a strong risk factor for cognitive impairment. Neurobiology of aging 2017 Dec . Kaivola Karri, Jansson Lilja, Saarentaus Elmo, Kiviharju Anna, Rantalainen Ville, Eriksson Johan G, Strandberg Timo E, Polvikoski Tuomo, Myllykangas Liisa, Tienari Pentti |
| Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease. International journal of molecular sciences 2019 Mar 20 (6): . Giau Vo Van, Senanarong Vorapun, Bagyinszky Eva, An Seong Soo A, Kim SangY |
| TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis. Journal of Alzheimer's disease : JAD 2019 Mar . Zhou Sheng-Lan, Tan Chen-Chen, Hou Xiao-He, Cao Xi-Peng, Tan Lan, Yu Jin-T |
| 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 screen in a large series of patients with primary progressive aphasia. Alzheimer's & dementia : the journal of the Alzheimer's Association 2019 1 15 (4): 553-560. Ramos Eliana Marisa, Dokuru Deepika Reddy, Van Berlo Victoria, Wojta Kevin, Wang Qing, Huang Alden Y, Miller Zachary A, Karydas Anna M, Bigio Eileen H, Rogalski Emily, Weintraub Sandra, Rader Benjamin, Miller Bruce L, Gorno-Tempini Maria Luisa, Mesulam Marek-Marsel, Coppola Giovan |
| 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 |
| Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2021 Feb . Hsu Jung-Lung, Lin Chin-Hsien, Chen Pei-Lung, Lin Kun-Ju, Chen Ta- |
| Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum. Frontiers in neurology 2022 13 886379. Tábuas-Pereira Miguel, Santana Isabel, Gibbons Elizabeth, Paquette Kimberly, Almeida Maria Rosário, Baldeiras Inês, Bras Jose, Guerreiro Ri |
| 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 |
| Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study. BMC neurology 2022 12 22 (1): 454. Santamaría-García Hernando, Ogonowsky Natalia, Baez Sandra, Palacio Nicole, Reyes Pablo, Schulte Michael, López Andrea, Matallana Diana, Ibanez Agust |
| CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia. Annals of clinical and translational neurology 2022 10 9 (11): 1764-1777. Woollacott Ione O C, Swift Imogen J, Sogorb-Esteve Aitana, Heller Carolin, Knowles Kathryn, Bouzigues Arabella, Russell Lucy L, Peakman Georgia, Greaves Caroline V, Convery Rhian, Heslegrave Amanda, Rowe James B, Borroni Barbara, Galimberti Daniela, Tiraboschi Pietro, Masellis Mario, Tartaglia Maria Carmela, Finger Elizabeth, van Swieten John C, Seelaar Harro, Jiskoot Lize, Sorbi Sandro, Butler Chris R, Graff Caroline, Gerhard Alexander, Laforce Robert, Sanchez-Valle Raquel, de Mendonça Alexandre, Moreno Fermin, Synofzik Matthis, Vandenberghe Rik, Ducharme Simon, Ber Isabelle Le, Levin Johannes, Otto Markus, Pasquier Florence, Santana Isabel, Zetterberg Henrik, Rohrer Jonathan D, |
| A microglial activity state biomarker panel differentiates FTD-granulin and Alzheimer's disease patients from controls. Molecular neurodegeneration 2023 9 18 (1): 70. Ida Pesämaa, Stephan A Müller, Sophie Robinson, Alana Darcher, Dominik Paquet, Henrik Zetterberg, Stefan F Lichtenthaler, Christian Haa |
| C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort. Annals of clinical and translational neurology 2023 2 . Tan Yi Jayne, Yong Alisa C W, Foo Jia Nee, Lian Michelle M, Lim Weng Khong, Dominguez Jacqueline, Fong Zhi Hui, Narasimhalu Kaavya, Chiew Hui Jin, Ng Kok Pin, Ting Simon K S, Kandiah Nagaendran, Ng Adeline S |
| Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study. Folia neuropathologica 2024 8 62 (2): 113-119. Anna Barczak, Mariusz Berdy?ski, Tomasz Gabryelewicz, Maria Barcikowska, Beata Borzems |
| TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing. Brain : a journal of neurology 2024 1 . Kostantin Kiianitsa, Maria E Lukes, Brian J Hayes, Julianna Brutman, Paul N Valdmanis, Thomas D Bird, Wendy H Raskind, Olena Korvats |
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