Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 163 Records) |
Query Trace: FUS[original query] |
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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 |
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 |
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 |
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 |
SOD1 gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program. Amyotrophic lateral sclerosis & frontotemporal degeneration 2024 9 1-10. Thomas Meyer, Peggy Schumann, Torsten Grehl, Ute Weyen, Susanne Petri, Annekathrin Rödiger, Robert Steinbach, Julian Grosskreutz, Sarah Bernsen, Patrick Weydt, Joachim Wolf, René Günther, Maximilian Vidovic, Petra Baum, Moritz Metelmann, Jochen H Weishaupt, Berthold Streubel, David C Kasper, Yasemin Koc, Dagmar Kettemann, Jenny Norden, Philipp Schmitt, Bertram Walter, Christoph Münch, Susanne Spittel, André Maier, Péter Körtvélyes |
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 |
Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China. Journal of medical genetics 2024 6 . Qirui Jiang, Junyu Lin, Qianqian Wei, Tianmi Yang, Yanbing Hou, Lingyu Zhang, Ruwei Ou, Yi Xiao, Shichan Wang, Xiaoting Zheng, Chunyu Li, Huifang Sha |
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 |
The RTK-RAS signaling pathway is enriched in patients with rare acute myeloid leukemia harboring t(16;21)(p11;q22)/FUS::ERG. Blood science (Baltimore, Md.) 2024 5 6 (2): e00188. Anli Lai, Wenbing Liu, Hui Wei, Ying Wang, Dong Lin, Chunlin Zhou, Bingcheng Liu, Runxia Gu, Yan Li, Shuning Wei, Benfa Gong, Kaiqi Liu, Xiaoyuan Gong, Yuntao Liu, Guangji Zhang, Junping Zhang, Yingchang Mi, Jianxiang Wang, Shaowei Q |
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