Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 33 Records) |
Query Trace: Dementia and FUS[original query] |
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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. European journal of human genetics : EJHG 2013 Jan 21 (1): 102-8. Smith Bradley N, Newhouse Stephen, Shatunov Aleksey, Vance Caroline, Topp Simon, Johnson Lauren, Miller Jack, Lee Younbok, Troakes Claire, Scott Kirsten M, Jones Ashley, Gray Ian, Wright Jamie, Hortobágyi Tibor, Al-Sarraj Safa, Rogelj Boris, Powell John, Lupton Michelle, Lovestone Simon, Sapp Peter C, Weber Markus, Nestor Peter J, Schelhaas Helenius J, Asbroek Anneloor Alm Ten, Silani Vincenzo, Gellera Cinzia, Taroni Franco, Ticozzi Nicola, Van den Berg Leonard, Veldink Jan, Van Damme Phillip, Robberecht Wim, Shaw Pamela J, Kirby Janine, Pall Hardev, Morrison Karen E, Morris Alex, de Belleroche Jacqueline, Vianney de Jong J M B, Baas Frank, Andersen Peter M, Landers John, Brown Robert H, Weale Michael E, Al-Chalabi Ammar, Shaw Christopher |
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. Journal of medical genetics 2012 Apr 49 (4): 258-63. Millecamps Stéphanie, Boillée Séverine, Le Ber Isabelle, Seilhean Danielle, Teyssou Elisa, Giraudeau Marine, Moigneu Carine, Vandenberghe Nadia, Danel-Brunaud Véronique, Corcia Philippe, Pradat Pierre-François, Le Forestier Nadine, Lacomblez Lucette, Bruneteau Gaelle, Camu William, Brice Alexis, Cazeneuve Cécile, Leguern Eric, Meininger Vincent, Salachas Franço |
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain : a journal of neurology 2012 Mar 135 (Pt 3): 784-93. Chiò Adriano, Borghero Giuseppe, Restagno Gabriella, Mora Gabriele, Drepper Carsten, Traynor Bryan J, Sendtner Michael, Brunetti Maura, Ossola Irene, Calvo Andrea, Pugliatti Maura, Sotgiu Maria Alessandra, Murru Maria Rita, Marrosu Maria Giovanna, Marrosu Francesco, Marinou Kalliopi, Mandrioli Jessica, Sola Patrizia, Caponnetto Claudia, Mancardi Gianluigi, Mandich Paola, La Bella Vincenzo, Spataro Rossella, Conte Amelia, Monsurrò Maria Rosaria, Tedeschi Gioacchino, Pisano Fabrizio, Bartolomei Ilaria, Salvi Fabrizio, Lauria Pinter Giuseppe, Simone Isabella, Logroscino Giancarlo, Gambardella Antonio, Quattrone Aldo, Lunetta Christian, Volanti Paolo, Zollino Marcella, Penco Silvana, Battistini Stefania, , Renton Alan E, Majounie Elisa, Abramzon Yevgeniya, Conforti Francesca Luisa, Giannini Fabio, Corbo Massimo, Sabatelli Mar |
Extensive genetics of ALS: a population-based study in Italy. Neurology 2012 Nov 79 (19): 1983-9. Chiò Adriano, Calvo Andrea, Mazzini Letizia, Cantello Roberto, Mora Gabriele, Moglia Cristina, Corrado Lucia, D'Alfonso Sandra, Majounie Elisa, Renton Alan, Pisano Fabrizio, Ossola Irene, Brunetti Maura, Traynor Bryan J, Restagno Gabriella, |
Investigating FUS variation in Parkinson's disease. Parkinsonism & related disorders 2014 Jan 20S1 . Labbé C, Rayaprolu S, Soto-Ortolaza A, Ogaki K, Uitti RJ, Wszolek ZK, Ross OA |
Defining neurodegeneration on Guam by targeted genomic sequencing. Annals of neurology 2015 Mar 77 (3): 458-68. Steele John C, Guella Ilaria, Szu-Tu Chelsea, Lin Michelle K, Thompson Christina, Evans Daniel M, Sherman Holly E, Vilariño-Güell Carles, Gwinn Katrina, Morris Huw, Dickson Dennis W, Farrer Matthew |
Rare variants in ?-Amyloid precursor protein (APP) and Parkinson's disease. European journal of human genetics : EJHG 2015 Oct 23 (10): 1328-33. Schulte Eva C, Fukumori Akio, Mollenhauer Brit, Hor Hyun, Arzberger Thomas, Perneczky Robert, Kurz Alexander, Diehl-Schmid Janine, Hüll Michael, Lichtner Peter, Eckstein Gertrud, Zimprich Alexander, Haubenberger Dietrich, Pirker Walter, Brücke Thomas, Bereznai Benjamin, Molnar Maria J, Lorenzo-Betancor Oswaldo, Pastor Pau, Peters Annette, Gieger Christian, Estivill Xavier, Meitinger Thomas, Kretzschmar Hans A, Trenkwalder Claudia, Haass Christian, Winkelmann Julia |
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 |
Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population. Journal of human genetics 2016 Dec 61 (12): 1003-1008. Shi Zhihong, Liu Shuai, Xiang Lei, Wang Ying, Liu Mengyuan, Liu Shuling, Han Tong, Zhou Yuying, Wang Jinhuan, Cai Li, Gao Shuo, Ji Yo |
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 |
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 |
Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2018 9 30 (2): 252-258. Volk Alexander E, Weishaupt Jochen H, Andersen Peter M, Ludolph Albert C, Kubisch Christi |
Next Generation Sequencing Analysis in Early Onset Dementia Patients. Journal of Alzheimer's disease : JAD 2019 67 (1): 243-256. Bonvicini Cristian, Scassellati Catia, Benussi Luisa, Di Maria Emilio, Maj Carlo, Ciani Miriam, Fostinelli Silvia, Mega Anna, Bocchetta Martina, Lanzi Gaetana, Giacopuzzi Edoardo, Ferraboli Sergio, Pievani Michela, Fedi Virginia, Defanti Carlo Alberto, Giliani Silvia, , Frisoni Giovanni Battista, Ghidoni Roberta, Gennarelli Massi |
Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration. Journal of Alzheimer's disease : JAD 2019 May . Luukkainen Laura, Helisalmi Seppo, Kytövuori Laura, Ahmasalo Riitta, Solje Eino, Haapasalo Annakaisa, Hiltunen Mikko, Remes Anne M, Krüger Johan |
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. Neuro-degenerative diseases 2019 Mar 18 (5-6): 310-314. Origone Paola, Geroldi Alessandro, Lamp Merit, Sanguineri Francesca, Caponnetto Claudia, Cabona Corrado, Gotta Fabio, Trevisan Lucia, Bellone Emilia, Manganelli Fiore, Devigili Grazia, Mandich Pao |
Association of rare variants in neurodegenerative genes with familial Alzheimer's disease. Annals of clinical and translational neurology 2020 Sep . Zhang Weiwei, Jiao Bin, Xiao Tingting, Liu Xixi, Liao Xinxin, Xiao Xuewen, Guo Lina, Yuan Zhenhua, Yan Xinxiang, Tang Beisha, Shen |
Basal forebrain atrophy in frontotemporal dementia. NeuroImage. Clinical 2020 3 26 102210. Convery Rhian S, Neason Mollie R, Cash David M, Cardoso M Jorge, Modat Marc, Ourselin Sebastien, Warren Jason D, Rohrer Jonathan D, Bocchetta Marti |
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 |
Clinico-genetic findings in 509 frontotemporal dementia patients. Molecular psychiatry 2021 Sep . Wagner Matias, Lorenz Georg, Volk Alexander E, Brunet Theresa, Edbauer Dieter, Berutti Riccardo, Zhao Chen, Anderl-Straub Sarah, Bertram Lars, Danek Adrian, Deschauer Marcus, Dill Veronika, Fassbender Klaus, Fliessbach Klaus, Götze Katharina S, Jahn Holger, Kornhuber Johannes, Landwehrmeyer Bernhard, Lauer Martin, Obrig Hellmuth, Prudlo Johannes, Schneider Anja, Schroeter Matthias L, Uttner Ingo, Vukovich Ruth, Wiltfang Jens, Winkler Andrea S, Zhou Qihui, Ludolph Albert C, , Oexle Konrad, Otto Markus, Diehl-Schmid Janine, Winkelmann Julia |
The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients. Frontiers in aging neuroscience 2021 13 699836. Liu Li, Cui Bo, Chu Min, Cui Yue, Jing Donglai, Li Dan, Xie Kexin, Kong Yu, Xia Tianxinyu, Wang Chaodong, Wu Liyo |
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, |
Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats. Journal of neurology, neurosurgery, and psychiatry 2022 8 93 (11): 1216-20. Chio Adriano, Moglia Cristina, Canosa Antonio, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Gallone Salvatore, Brunetti Maura, Barberis Marco, De Marchi Fabiola, Dalgard Clifton, Chia Ruth, Mora Gabriele, Iazzolino Barbara, Peotta Laura, Traynor Bryan, Corrado Lucia, D'Alfonso Sandra, Mazzini Letizia, Calvo Andr |
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 |
The severity of behavioural symptoms in FTD is linked to the loss of GABRQ-expressing VENs and pyramidal neurons. Neuropathology and applied neurobiology 2022 2 48 (4): e12798. Gami-Patel Priya, Scarioni Marta, Bouwman Femke H, Boon Baayla D C, van Swieten John C, Brain Bank Netherlands, Rozemuller Annemieke J M, Smit August B, Pijnenburg Yolande A L, Hoozemans Jeroen J M, Dijkstra Anke |
Knockdown of glutathione S-transferase leads to mislocalization and accumulation of cabeza, a drosophila homolog of FUS, in the brain. Journal of neurogenetics 2022 11 1-5. Cha Sun Joo, Yoon Ja Hoon, Han Yeo Jeong, Kim Kiyou |
Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes. European journal of nuclear medicine and molecular imaging 2022 1 49 (7): 2242-2250. Canosa Antonio, Calvo Andrea, Moglia Cristina, Vasta Rosario, Palumbo Francesca, Solero Luca, Di Pede Francesca, Cabras Sara, Arena Vincenzo, Zocco Grazia, Casale Federico, Brunetti Maura, Sbaiz Luca, Gallone Salvatore, Grassano Maurizio, Manera Umberto, Pagani Marco, Chiò Adria |
Integrative genetic analysis illuminates ALS heritability and identifies risk genes. Nature communications 2023 1 14 (1): 342. Megat Salim, Mora Natalia, Sanogo Jason, Roman Olga, Catanese Alberto, Alami Najwa Ouali, Freischmidt Axel, Mingaj Xhuljana, De Calbiac Hortense, Muratet François, Dirrig-Grosch Sylvie, Dieterle Stéphane, Van Bakel Nick, Müller Kathrin, Sieverding Kirsten, Weishaupt Jochen, Andersen Peter Munch, Weber Markus, Neuwirth Christoph, Margelisch Markus, Sommacal Andreas, Van Eijk Kristel R, Veldink Jan H, , Lautrette Géraldine, Couratier Philippe, Camuzat Agnès, Le Ber Isabelle, Grassano Maurizio, Chio Adriano, Boeckers Tobias, Ludolph Albert C, Roselli Francesco, Yilmazer-Hanke Deniz, Millecamps Stéphanie, Kabashi Edor, Storkebaum Erik, Sellier Chantal, Dupuis L |
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients. Journal of neuromuscular diseases 2024 7 . Daniel Baumgartner, Zuzana Mušová, Jana Zídková, Petra Hedvi?áková, Eva Vl?ková, Lubica Joppeková, Tereza Kramá?ová, Lenka Fajkusová, Viktor Stránecký, Jan Geryk, Pavel Votýpka, Radim Mazan |
Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study. Journal of neurology 2024 6 . Dongchao Shen, Xunzhe Yang, Di He, Kang Zhang, Shuangwu Liu, Xiaohan Sun, Jinyue Li, Zhengyi Cai, Mingsheng Liu, Xue Zhang, Qing Liu, Liying C |
Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations. Alzheimer's research & therapy 2024 6 16 (1): 127. Haitian Nan, Yeon-Jeong Kim, Min Chu, Dan Li, Jieying Li, Deming Jiang, Yiming Wu, Toshihisa Ohtsuka, Liyong |
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