HuGE Literature Finder
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| 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 |
| Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. Neurobiology of aging 2016 Dec . Black Holly A, Leighton Danielle J, Cleary Elaine M, Rose Elaine, Stephenson Laura, Colville Shuna, Ross David, Warner Jon, Porteous Mary, Gorrie George H, Swingler Robert, Goldstein David, Harms Matthew B, Connick Peter, Pal Suvankar, Aitman Timothy J, Chandran Siddharth |
| 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 |
| 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 |
| 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, |
| TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course. Rejuvenation research 2010 Oct 13 (5): 509-17. Borroni B, Archetti S, Del Bo R, Papetti A, Buratti E, Bonvicini C, Agosti C, Cosseddu M, Turla M, Di Lorenzo D, Pietro Comi G, Gennarelli M, Padovani |
| Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Human molecular genetics 2009 Feb 18 (3): 472-81. Simpson Claire L, Lemmens Robin, Miskiewicz Katarzyna, Broom Wendy J, Hansen Valerie K, van Vught Paul W J, Landers John E, Sapp Peter, Van Den Bosch Ludo, Knight Joanne, Neale Benjamin M, Turner Martin R, Veldink Jan H, Ophoff Roel A, Tripathi Vineeta B, Beleza Ana, Shah Meera N, Proitsi Petroula, Van Hoecke Annelies, Carmeliet Peter, Horvitz H Robert, Leigh P Nigel, Shaw Christopher E, van den Berg Leonard H, Sham Pak C, Powell John F, Verstreken Patrik, Brown Robert H, Robberecht Wim, Al-Chalabi Amm |
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