Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Disease Progression and FUS[original query] |
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Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation. Neuropathology and applied neurobiology 2013 Aug 39 (5): 562-71. Kirby J, Highley J R, Cox L, Goodall E F, Hewitt C, Hartley J A, Hollinger H C, Fox M, Ince P G, McDermott C J, Shaw P |
HFE p.H63D polymorphism does not influence ALS phenotype and survival. Neurobiology of aging 2015 Oct 36 (10): 2906.e7-2906.e11. Chiò Adriano, Mora Gabriele, Sabatelli Mario, Caponnetto Claudia, Lunetta Christian, Traynor Bryan J, Johnson Janel O, Nalls Mike A, Calvo Andrea, Moglia Cristina, Borghero Giuseppe, Monsurrò Maria Rosaria, La Bella Vincenzo, Volanti Paolo, Simone Isabella, Salvi Fabrizio, Logullo Francesco O, Nilo Riva, Giannini Fabio, Mandrioli Jessica, Tanel Raffaella, Murru Maria Rita, Mandich Paola, Zollino Marcella, Conforti Francesca L, Penco Silvana, , , Brunetti Maura, Barberis Marco, Restagno Gabriel |
The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis. Clinical genetics 2017 Mar . Liu Z-J, Lin H-X, Liu G-L, Tao Q-Q, Ni W, Xiao B-G, Wu Z |
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis. Annals of clinical and translational neurology 2019 11 6 (12): 2384-2394. Naumann Marcel, Peikert Kevin, Günther Rene, van der Kooi Anneke J, Aronica Eleonora, Hübers Annemarie, Danel Veronique, Corcia Philippe, Pan-Montojo Francisco, Cirak Sebahattin, Haliloglu Göknur, Ludolph Albert C, Goswami Anand, Andersen Peter M, Prudlo Johannes, Wegner Florian, Van Damme Philip, Weishaupt Jochen H, Hermann Andre |
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 |
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 |
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 |
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 |
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 |
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 |
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