Human Genome Epidemiology Literature Finder
Records 1 - 16 (of 16 Records) |
Query Trace: Motor Neuron Disease and SOD1[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 |
Age and founder effect of SOD1 A4V mutation causing ALS. Neurology 2009 May 72 (19): 1634-9. Saeed M, Yang Y, Deng H-X, Hung W-Y, Siddique N, Dellefave L, Gellera C, Andersen P M, Siddique |
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, |
Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients. Neurobiology of aging 2013 May 34 (5): 1516.e1-8. Alavi Afagh, Nafissi Shahriar, Rohani Mohammad, Zamani Babak, Sedighi Behnaz, Shamshiri Hosein, Fan Jian-Bing, Ronaghi Mostafa, Elahi Ela |
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 |
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 |
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 |
Inflammatory profiles relate to survival in subtypes of amyotrophic lateral sclerosis. Neurology(R) neuroimmunology & neuroinflammation 2020 3 7 (3): . Olesen Mads Nikolaj, Wuolikainen Anna, Nilsson Anna Christine, Wirenfeldt Martin, Forsberg Karin, Madsen Jonna Skov, Lillevang Soeren Thue, Brandslund Ivan, Andersen Peter Munch, Asgari Nasr |
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 |
Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics. Scientific reports 2021 11 11 (1): 22128. Behzadi Arvin, Pujol-Calderón Fani, Tjust Anton E, Wuolikainen Anna, Höglund Kina, Forsberg Karin, Portelius Erik, Blennow Kaj, Zetterberg Henrik, Andersen Peter Mun |
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 |
ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion. Neurology. Genetics 2022 3 8 (2): e665. Laaksovirta Hannu, Launes Jyrki, Jansson Lilja, Traynor Bryan J, Kaivola Karri, Tienari Pentti |
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland. Journal of neurology 2022 12 . Leighton Danielle J, Ansari Morad, Newton Judith, Parry David, Cleary Elaine, Colville Shuna, Stephenson Laura, Larraz Juan, Johnson Micheala, Beswick Emily, Wong Michael, Gregory Jenna, Carod Artal Javier, Davenport Richard, Duncan Callum, Morrison Ian, Smith Colin, Swingler Robert, Deary Ian J, Porteous Mary, Aitman Timothy J, Chandran Siddharthan, Gorrie George H, Pal Suvankar, , |
SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier? Cerebellum (London, England) 2023 2 . Marsili Luca, Davis Jennie L, Espay Alberto J, Gilthorpe Jonathan, Williams Chloe, Kauffman Marcelo A, Porollo Aleks |
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- Page last updated:Mar 25, 2024
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