Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: Dementia and SQSTM1[original query] |
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SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA neurology 2013 Nov 70 (11): 1403-10. Le Ber Isabelle, Camuzat Agnès, Guerreiro Rita, Bouya-Ahmed Kawtar, Bras Jose, Nicolas Gael, Gabelle Audrey, Didic Mira, De Septenville Anne, Millecamps Stéphanie, Lenglet Timothée, Latouche Morwena, Kabashi Edor, Campion Dominique, Hannequin Didier, Hardy John, Brice Alexis, |
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta neuropathologica 2014 Sep 128 (3): 397-410. van der Zee Julie, Van Langenhove Tim, Kovacs Gabor G, Dillen Lubina, Deschamps William, Engelborghs Sebastiaan, Mat?j Radoslav, Vandenbulcke Mathieu, Sieben Anne, Dermaut Bart, Smets Katrien, Van Damme Philip, Merlin Céline, Laureys Annelies, Van Den Broeck Marleen, Mattheijssens Maria, Peeters Karin, Benussi Luisa, Binetti Giuliano, Ghidoni Roberta, Borroni Barbara, Padovani Alessandro, Archetti Silvana, Pastor Pau, Razquin Cristina, Ortega-Cubero Sara, Hernández Isabel, Boada Mercè, Ruiz Agustín, de Mendonça Alexandre, Miltenberger-Miltényi Gabriel, do Couto Frederico Simões, Sorbi Sandro, Nacmias Benedetta, Bagnoli Silvia, Graff Caroline, Chiang Huei-Hsin, Thonberg Håkan, Perneczky Robert, Diehl-Schmid Janine, Alexopoulos Panagiotis, Frisoni Giovanni B, Bonvicini Christian, Synofzik Matthis, Maetzler Walter, vom Hagen Jennifer Müller, Schöls Ludger, Haack Tobias B, Strom Tim M, Prokisch Holger, Dols-Icardo Oriol, Clarimón Jordi, Lleó Alberto, Santana Isabel, Almeida Maria Rosário, Santiago Beatriz, Heneka Michael T, Jessen Frank, Ramirez Alfredo, Sanchez-Valle Raquel, Llado Albert, Gelpi Ellen, Sarafov Stayko, Tournev Ivailo, Jordanova Albena, Parobkova Eva, Fabrizi Gian Maria, Testi Silvia, Salmon Eric, Ströbel Thomas, Santens Patrick, Robberecht Wim, De Jonghe Peter, Martin Jean-Jacques, Cras Patrick, Vandenberghe Rik, De Deyn Peter Paul, Cruts Marc, Sleegers Kristel, Van Broeckhoven Christi |
Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia. Neuropathology : official journal of the Japanese Society of Neuropathology 2015 Aug . Kovacs Gabor G, van der Zee Julie, Hort Jakub, Kristoferitsch Wolfgang, Leitha Thomas, Höftberger Romana, Ströbel Thomas, Van Broeckhoven Christine, Matej Radosl |
Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study. Neurobiology of aging 2015 May 36 (5): 2005.e15-22. Cuyvers Elise, van der Zee Julie, Bettens Karolien, Engelborghs Sebastiaan, Vandenbulcke Mathieu, Robberecht Caroline, Dillen Lubina, Merlin Céline, Geerts Nathalie, Graff Caroline, Thonberg Håkan, Chiang Huei-Hsin, Pastor Pau, Ortega-Cubero Sara, Pastor Maria A, Diehl-Schmid Janine, Alexopoulos Panagiotis, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Nacmias Benedetta, Sorbi Sandro, Sanchez-Valle Raquel, Lladó Albert, Gelpi Ellen, Almeida Maria Rosário, Santana Isabel, Clarimon Jordi, Lleó Alberto, Fortea Juan, de Mendonça Alexandre, Martins Madalena, Borroni Barbara, Padovani Alessandro, Mat?j Radoslav, Rohan Zdenek, Ruiz Agustín, Frisoni Giovanni B, Fabrizi Gian Maria, Vandenberghe Rik, De Deyn Peter P, Van Broeckhoven Christine, Sleegers Kristel, |
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PloS one 2016 11 (9): e0162592. Guven Gamze, Lohmann Ebba, Bras Jose, Gibbs J Raphael, Gurvit Hakan, Bilgic Basar, Hanagasi Hasmet, Rizzu Patrizia, Heutink Peter, Emre Murat, Erginel-Unaltuna Nihan, Just Walter, Hardy John, Singleton Andrew, Guerreiro Ri |
TBK1 is associated with ALS and ALS-FTD in Sardinian patients. Neurobiology of aging 2016 Apr . Borghero Giuseppe, Pugliatti Maura, Marrosu Francesco, Marrosu Maria Giovanna, Murru Maria Rita, Floris Gianluca, Cannas Antonino, Occhineri Patrizia, Cau Tea B, Loi Daniela, Ticca Anna, Traccis Sebastiano, Manera Umberto, Canosa Antonio, Moglia Cristina, Calvo Andrea, Barberis Marco, Brunetti Maura, Gibbs J Raphael, Renton Alan E, Errichiello Edoardo, Zoledziewska Magdalena, Mulas Antonella, Qian Yong, Din Jun, Pliner Hannah A, Traynor Bryan J, Chiò Adriano, |
Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations. Journal of Alzheimer's disease : JAD 2016 May . Luis Elkin, Ortiz Alexandra, Eudave Luis, Ortega-Cubero Sara, Borroni Barbara, van der Zee Julie, Gazzina Stefano, Caroppo Paola, Rubino Elisa, D'Agata Federico, Le Ber Isabelle, Santana Isabel, Cunha Gil, Almeida Maria R, Boutoleau-Bretonnière Claire, Hannequin Didier, Wallon David, Rainero Innocenzo, Galimberti Daniela, Van Broeckhoven Christine, Pastor Maria A, Pastor P |
Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2016 Apr 40 191.e11-191.e16. Tsai Pei-Chien, Liu Yi-Chien, Lin Kon-Ping, Liu Yo-Tsen, Liao Yi-Chu, Hsiao Cheng-Tsung, Soong Bing-Wen, Yip Ping-Keung, Lee Yi-Chu |
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation. Journal of neurology, neurosurgery, and psychiatry 2017 9 89 (2): 162-168. Dols-Icardo Oriol, García-Redondo Alberto, Rojas-García Ricardo, Borrego-Hernández Daniel, Illán-Gala Ignacio, Muñoz-Blanco José Luís, Rábano Alberto, Cervera-Carles Laura, Juárez-Rufián Alexandra, Spataro Nino, De Luna Noemí, Galán Lucía, Cortes-Vicente Elena, Fortea Juan, Blesa Rafael, Grau-Rivera Oriol, Lleó Alberto, Esteban-Pérez Jesús, Gelpi Ellen, Clarimón Jor |
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 |
Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis. Neurobiology of aging 2017 Oct . Tsai Pei-Chien, Liao Yi-Chu, Chen Po-Lin, Guo Yuh-Cherng, Chen Ying-Hao, Jih Kang-Yang, Lin Kon-Ping, Soong Bing-Wen, Tsai Ching-Paio, Lee Yi-Chu |
C9ORF72 hexanucleotide repeat expansion frequency in patients with Paget's disease of bone. Neurobiology of aging 2019 Aug . Rubino Elisa, Di Stefano Marco, Galimberti Daniela, Serpente Maria, Scarpini Elio, Fenoglio Chiara, Bo Mario, Rainero Innocen |
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 |
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms. Journal of clinical medicine 2020 2 9 (2): . Pensato Viviana, Magri Stefania, Bella Eleonora Dalla, Tannorella Pierpaola, Bersano Enrica, Sorarù Gianni, Gatti Marta, Ticozzi Nicola, Taroni Franco, Lauria Giuseppe, Mariotti Caterina, Gellera Cinz |
A mutation in p62 protein (p. R321C), associated to Paget's disease of bone, causes a blockade of autophagy and an activation of NF-kB pathway. Bone 2020 2 133 115265. Usategui-Martín Ricardo, Gestoso-Uzal Nerea, Calero-Paniagua Ismael, De Pereda José María, Del Pino-Montes Javier, González-Sarmiento Rogel |
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta neuropathologica communications 2020 Jan 8 (1): 5. Orme Tatiana, Hernandez Dena, Ross Owen A, Kun-Rodrigues Celia, Darwent Lee, Shepherd Claire E, Parkkinen Laura, Ansorge Olaf, Clark Lorraine, Honig Lawrence S, Marder Karen, Lemstra Afina, Rogaeva Ekaterina, St George-Hyslop Peter, Londos Elisabet, Zetterberg Henrik, Morgan Kevin, Troakes Claire, Al-Sarraj Safa, Lashley Tammaryn, Holton Janice, Compta Yaroslau, Van Deerlin Vivianna, Trojanowski John Q, Serrano Geidy E, Beach Thomas G, Lesage Suzanne, Galasko Douglas, Masliah Eliezer, Santana Isabel, Pastor Pau, Tienari Pentti J, Myllykangas Liisa, Oinas Minna, Revesz Tamas, Lees Andrew, Boeve Brad F, Petersen Ronald C, Ferman Tanis J, Escott-Price Valentina, Graff-Radford Neill, Cairns Nigel J, Morris John C, Pickering-Brown Stuart, Mann David, Halliday Glenda, Stone David J, Dickson Dennis W, Hardy John, Singleton Andrew, Guerreiro Rita, Bras Jo |
The role of genetics in neurodegenerative dementia: a large cohort study in South China. NPJ genomic medicine 2021 8 6 (1): 69. Jiao Bin, Liu Hui, Guo Lina, Xiao Xuewen, Liao Xinxin, Zhou Yafang, Weng Ling, Zhou Lu, Wang Xin, Jiang Yaling, Yang Qijie, Zhu Yuan, Zhou Lin, Zhang Weiwei, Wang Junling, Yan Xinxiang, Li Jinchen, Tang Beisha, Shen |
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. Journal of neurology 2021 Mar . Bartoletti-Stella Anna, Vacchiano Veria, De Pasqua Silvia, Mengozzi Giacomo, De Biase Dario, Bartolomei Ilaria, Avoni Patrizia, Rizzo Giovanni, Parchi Piero, Donadio Vincenzo, Chiò Adriano, Pession Annalisa, Oppi Federico, Salvi Fabrizio, Liguori Rocco, Capellari Sabina, |
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 |
Genetic Spectrum and Clinical Heterogeneity of Chinese Frontotemporal Dementia Patients: Data from PUMCH Dementia Cohort. Journal of Alzheimer's disease : JAD 2022 Aug . Dong Liling, Wang Jie, Liu Caiyan, Li Jie, Mao Chenhui, Huang Xinying, Chu Shanshan, Peng Bin, Cui Liying, Gao Ji |
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort. Frontiers in aging neuroscience 2022 12 14 1085406. Rossi Giacomina, Salvi Erika, Mehmeti Elkadia, Ricci Martina, Villa Cristina, Prioni Sara, Moda Fabio, Di Fede Giuseppe, Tiraboschi Pietro, Redaelli Veronica, Coppola Cinzia, Koch Giacomo, Canu Elisa, Filippi Massimo, Agosta Federica, Giaccone Giorgio, Caroppo Pao |
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- Page last updated:Apr 16, 2024
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