Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 155 Records) |
Query Trace: FUS[original query] |
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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 |
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population. Journal of medical genetics 2021 Sep . Chen Yong-Ping, Yu Shi-Hui, Wei Qian-Qian, Cao Bei, Gu Xiao-Jing, Chen Xue-Ping, Song Wei, Zhao Bi, Wu Ying, Sun Ming-Ming, Liu Fei-Fei, Hou Yan-Bing, Ou Ru-Wei, Zhang Ling-Yu, Liu Kun-Cheng, Lin Jun-Yu, Xu Xin-Ran, Li Chun-Yu, Yang Jing, Jiang Zheng, Liu Jiao, Cheng Yang-Fan, Xiao Yi, Chen Ke, Feng Fei, Cai Ying-Ying, Li Shi-Rong, Hu Tao, Yuan Xiao-Qin, Guo Xiao-Yan, Liu Hui, Han Qing, Zhou Qing-Qing, Shao Na, Li Jian-Peng, Pan Ping-Lei, Ma Sha, Shang Hui-Fa |
Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects. BMC medical genomics 2021 Sep 14 (1): 222. Lin Feng, Lin Wanhui, Zhu Chaofeng, Lin Jilan, Zhu Junge, Li Xu-Ying, Wang Zhanjun, Wang Chaodong, Huang Huap |
Genotype-phenotype correlations in a chinese population with familial amyotrophic lateral sclerosis. Neurological research 2021 8 44 (3): 206-216. Liu WenChao, Li XiaoGang, Sun Yan, Yu XiaoTong, Wang Yan, Liu Na, Deng M |
High prevalence of TERT aberrations in myxoid liposarcoma: TERT reactivation may play a crucial role in tumorigenesis. Cancer science 2021 12 113 (3): 1078-1089. Kunieda Junko, Yamashita Kyoko, Togashi Yuki, Baba Satoko, Sakata Seiji, Inamura Kentaro, Ae Keisuke, Matsumoto Seiichi, Machinami Rikuo, Kitagawa Masanobu, Takeuchi Ken |
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis. Neurology. Genetics 2022 9 8 (5): e200011. Grassano Maurizio, Brodini Giorgia, De Marco Giovanni, Casale Federico, Fuda Giuseppe, Salamone Paolina, Brunetti Maura, Sbaiz Luca, Gallone Salvatore, Cugnasco Paolo, Bombaci Alessandro, Vasta Rosario, Manera Umberto, Canosa Antonio, Moglia Cristina, Calvo Andrea, Traynor Bryan J, Chio Adria |
Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis. Neurobiology of aging 2022 Aug 120 27-33. Kacem Imen, Sghaier Ikram, Peverelli Silvia, Souissi Emira, Ticozzi Nicola, Gharbi Alya, Ratti Antonia, Berrechid Amina Gargouri, Silani Vincenzo, Gouider Ria |
Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum. Neurobiology of aging 2022 8 119 117-126. Witzel Simon, Wagner Matias, Zhao Chen, Kandler Katharina, Graf Elisabeth, Berutti Riccardo, Oexle Konrad, Brenner David, Winkelmann Juliane, Ludolph Albert |
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 |
Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants. Neurology 2022 8 99 (18): e2052-62. Bella Eleonora Dalla, Bersano Enrica, Bruzzone Maria Grazia, Gellera Cinzia, Pensato Viviana, Lauria Giuseppe, Consonni Moni |
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 |
Molecular profile of head and neck rhabdomyosarcomas: A systematic review and meta-analysis. Oral surgery, oral medicine, oral pathology and oral radiology 2022 7 134 (3): 354-366. Gallagher Karen Patricia Domínguez, van Heerden Willie, Said-Al-Naief Nasser, Carlos Roman, Arboleda Lady Paola Aristizabal, Rodrigues-Fernandes Carla Isabelly, Araújo Anna Luíza Damaceno, Fonseca Felipe Paiva, Pontes Hélder Antônio Rebelo, Innocentini Lara Maria Alencar Ramos, Romañach Mário José, Vargas Pablo Agustin, Lopes Márcio Ajudarte, Santos-Silva Alan Roger, Khurram Syed A |
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance. Neurology. Genetics 2022 7 8 (4): e200009. Goldstein Orly, Inbar Talya, Kedmi Merav, Gana-Weisz Mali, Abramovich Beatrice, Orr-Urtreger Avi, Drory Vivian |
Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis. BMC medicine 2022 6 20 (1): 209. Su Wei-Ming, Gu Xiao-Jing, Duan Qing-Qing, Jiang Zheng, Gao Xia, Shang Hui-Fang, Chen Yong-Pi |
A molecular view of amyotrophic lateral sclerosis through the lens of interaction network modules. PloS one 2022 5 17 (5): e0268159. Jensen Klaus Højgaard, Stalder Anna Katharina, Wernersson Rasmus, Roloff-Handschin Tim-Christoph, Hansen Daniel Hvidberg, Groenen Peter M |
Methylome analysis of ALS patients and presymptomatic mutation carriers in blood cells. Neurobiology of aging 2022 5 116 16-24. Ruf Wolfgang P, Hannon Eilis, Freischmidt Axel, Grozdanov Veselin, Brenner David, Müller Kathrin, Knehr Antje, Günther Kornelia, Dorst Johannes, Ammerpohl Ole, Danzer Karin M, Mill Jonathan, Ludolph Albert C, Weishaupt Jochen |
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 |
Causal associations of genetic factors with clinical progression in amyotrophic lateral sclerosis. Computer methods and programs in biomedicine 2022 2 216 106681. Ahangaran Meysam, Chiò Adriano, D'Ovidio Fabrizio, Manera Umberto, Vasta Rosario, Canosa Antonio, Moglia Cristina, Calvo Andrea, Minaei-Bidgoli Behrouz, Jahed-Motlagh Mohammad-Re |
UBTF-internal tandem duplication as a novel poor prognostic factor in pediatric acute myeloid leukemia. Genes, chromosomes & cancer 2022 11 62 (4): 202-209. Kaburagi Taeko, Shiba Norio, Yamato Genki, Yoshida Kenichi, Tabuchi Ken, Ohki Kentaro, Ishikita Etsuko, Hara Yusuke, Shiraishi Yuichi, Kawasaki Hirohide, Sotomatsu Manabu, Takizawa Takumi, Taki Tomohiko, Kiyokawa Nobutaka, Tomizawa Daisuke, Horibe Keizo, Miyano Satoru, Taga Takashi, Adachi Souichi, Ogawa Seishi, Hayashi Yasuhi |
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 |
Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis. Neurology. Genetics 2022 10 8 (6): e200033. Calvo Andrea, Canosa Antonio, Moglia Cristina, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Cugnasco Paolo, Gallone Salvatore, Brunetti Maura, De Marchi Fabiola, Arena Vincenzo, Pagani Marco, Dalgard Clifton, Scholz Sonja W, Chia Ruth, Corrado Lucia, Dalfonso Sandra, Mazzini Letizia, Traynor Bryan J, Chio Adria |
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 |
Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report. Frontiers in genetics 2023 9 14 1208673. Elif Bayraktar, Vildan Çiftçi, Hilmi Uysal, A Nazl? Ba? |
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis. Brain communications 2023 5 5 (3): fcad152. Wolfgang P Ruf, Matej Boros, Axel Freischmidt, David Brenner, Veselin Grozdanov, Joao de Meirelles, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Grosskreutz, Ute Weyen, Rene Guenther, Martin Regensburger, Tim Hagenacker, Jan C Koch, Alexander Emmer, Annekathrin Roediger, Robert Steinbach, Joachim Wolf, Jochen H Weishaupt, Paul Lingor, Marcus Deschauer, Isabell Cordts, Thomas Klopstock, Peter Reilich, Florian Schoeberl, Berthold Schrank, Daniel Zeller, Andreas Hermann, Antje Knehr, Kornelia Günther, Johannes Dorst, Joachim Schuster, Reiner Siebert, Albert C Ludolph, Kathrin Müll |
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis. Neurology 2023 5 . Adriano Chio, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Rosario Vasta, Francesca Palumbo, Salvatore Gallone, Maura Brunetti, Marco Barberis, Fabiola De Marchi, Clifton Dalgard, Ruth Chia, Gabriele Mora, Barbara Iazzolino, Laura Peotta, Bryan J Traynor, Lucia Corrado, Sandra Dalfonso, Letizia Mazzini, Andrea Cal |
Risk factors of amyotrophic lateral sclerosis: a global meta-summary. Frontiers in neuroscience 2023 5 17 1177431. Qing-Qing Duan, Zheng Jiang, Wei-Ming Su, Xiao-Jing Gu, Han Wang, Yang-Fan Cheng, Bei Cao, Xia Gao, Yi Wang, Yong-Ping Ch |
Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis. Journal of neurology 2023 11 . Teuta Domi, Paride Schito, Giacomo Sferruzza, Tommaso Russo, Laura Pozzi, Federica Agosta, Paola Carrera, Nilo Riva, Massimo Filippi, Angelo Quattrini, Yuri Matteo Falzo |
FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 11 1-15. Xin Xiao, Min Li, Zhi Ye, Xiaoyan He, Jun Wei, Yunhong Z |
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 |
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- Page last updated:Apr 16, 2024
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