Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 99 Records) |
| Query Trace: Disease and FUS[original query] |
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| 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 |
| Metal(loid)s role in the pathogenesis of amyotrophic lateral sclerosis: Environmental, epidemiological, and genetic data. Environmental research 2020 10 192 110292. Tesauro Marina, Bruschi Maurizio, Filippini Tommaso, D'Alfonso Sandra, Mazzini Letizia, Corrado Lucia, Consonni Michela, Vinceti Marco, Fusi Paola, Urani Chia |
| 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 |
| Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS). Neurobiology of aging 2021 Jul . Edgar Suzanna, Ellis Melina, Abdul-Aziz Nur Adilah, Goh Khean-Jin, Shahrizaila Nortina, Kennerson Marina L, Ahmad-Annuar Azli |
| Genetic analysis of ALS cases in the isolated island population of Malta. European journal of human genetics : EJHG 2021 1 29 (4): 604-614. Borg Rebecca, Farrugia Wismayer Maia, Bonavia Karl, Farrugia Wismayer Andrew, Vella Malcolm, van Vugt Joke J F A, Kenna Brendan J, Kenna Kevin P, Vassallo Neville, Veldink Jan H, Cauchi Ruben |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis. Cellular and molecular life sciences : CMLS 2024 7 81 (1): 316. Maria Guarnaccia, Giovanna Morello, Valentina La Cognata, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavalla |
| 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 |
| Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland. Journal of neurology 2024 6 . Danielle J Leighton, Morad Ansari, Judith Newton, Elaine Cleary, Laura Stephenson, Emily Beswick, Javier Carod Artal, Richard Davenport, Callum Duncan, George H Gorrie, Ian Morrison, Robert Swingler, Ian J Deary, Mary Porteous, Siddharthan Chandran, Suvankar Pal, |
| 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 epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study. Scientific reports 2024 12 14 (1): 30781. Ellie Mitsi, Christina Votsi, Pantelitsa Koutsou, Anthi Georghiou, Christiana C Christodoulou, Kleopas Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoulou, Paschalis Nicola |
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