Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Motor Neuron Disease and TARDBP[original query] |
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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 |
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 |
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, |
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 |
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 |
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 |
Structural MRI Signatures in Genetic Presentations of the Frontotemporal Dementia/Motor Neuron Disease Spectrum. Neurology 2021 9 97 (16): e1594-e1607. Spinelli Edoardo Gioele, Ghirelli Alma, Basaia Silvia, Cividini Camilla, Riva Nilo, Canu Elisa, Castelnovo Veronica, Domi Teuta, Magnani Giuseppe, Caso Francesca, Caroppo Paola, Prioni Sara, Rossi Giacomina, Tremolizzo Lucio, Appollonio Ildebrando, Silani Vincenzo, Carrera Paola, Filippi Massimo, Agosta Federi |
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 |
Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations. Frontiers in neurology 2022 8 13 931006. Spinelli Edoardo Gioele, Ghirelli Alma, Riva Nilo, Canu Elisa, Castelnovo Veronica, Domi Teuta, Pozzi Laura, Carrera Paola, Silani Vincenzo, Chiò Adriano, Filippi Massimo, Agosta Federi |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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