Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Motor Neuron Disease and FUS[original query] |
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C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany. Neurobiology of aging 2011 Mar 32 (3): 548.e1-4. Drepper Carsten, Herrmann Thomas, Wessig Carsten, Beck Marcus, Sendtner Micha |
FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration. Journal of Alzheimer's disease : JAD 2010 19 (4): 1317-22. Cantoni Claudia, Fenoglio Chiara, Cortini Francesca, Venturelli Eliana, Villa Chiara, Clerici Francesca, Marcone Alessandra, Benussi Luisa, Ghidoni Roberta, Gallone Salvatore, Scalabrini Diego, Franceschi Massimo, Cappa Stefano, Binetti Giuliano, Mariani Claudio, Rainero Innocenzo, Giordana Maria Teresa, Bresolin Nereo, Scarpini Elio, Galimberti Danie |
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis. Journal of neurology, neurosurgery, and psychiatry 2011 Nov 82 (11): 1239-43. Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Ticozzi N, Corti S, Castellotti B, Mazzini L, Sorarù G, Cereda C, D'Alfonso S, Gellera C, Comi G P, Silani V, |
De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. Neurobiology of aging 2013 Apr 34 (4): 1312.e1-8. Zou Zhang-Yu, Cui Li-Ying, Sun Qing, Li Xiao-Guang, Liu Ming-Sheng, Xu Yan, Zhou Yan, Yang Xun-Z |
ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation. Acta neuropathologica communications 2015 3 62. King Andrew, Troakes Claire, Smith Bradley, Nolan Matthew, Curran Olimpia, Vance Caroline, Shaw Christopher E, Al-Sarraj Sa |
Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin. Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 Mar 1-4. Zou Zhang-Yu, Liu Ming-Sheng, Li Xiao-Guang, Cui Li-Yi |
Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2018 9 30 (2): 252-258. Volk Alexander E, Weishaupt Jochen H, Andersen Peter M, Ludolph Albert C, Kubisch Christi |
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. Neuro-degenerative diseases 2019 Mar 18 (5-6): 310-314. Origone Paola, Geroldi Alessandro, Lamp Merit, Sanguineri Francesca, Caponnetto Claudia, Cabona Corrado, Gotta Fabio, Trevisan Lucia, Bellone Emilia, Manganelli Fiore, Devigili Grazia, Mandich Pao |
Molecular analysis and clinical diversity of distal hereditary motor neuropathy. European journal of neurology 2020 4 27 (7): 1319-1326. Liu X, Duan X, Zhang Y, Sun A, Fan |
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 |
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, |
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