HuGE Literature Finder
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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 |
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 |
Rare variants at 16p11.2 are associated with common variable immunodeficiency. The Journal of allergy and clinical immunology 2015 Jun 135 (6): 1569-77. Maggadottir S Melkorka, Li Jin, Glessner Joseph T, Li Yun Rose, Wei Zhi, Chang Xiao, Mentch Frank D, Thomas Kelly A, Kim Cecilia E, Zhao Yan, Hou Cuiping, Wang Fengxiang, Jørgensen Silje F, Perez Elena E, Sullivan Kathleen E, Orange Jordan S, Karlsen Tom H, Chapel Helen, Cunningham-Rundles Charlotte, Hakonarson Hak |
Genetics of essential tremor: meta-analysis and review. Neurology 2014 Mar 82 (11): 1000-7. Kuhlenbäumer Gregor, Hopfner Franziska, Deuschl Günth |
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