Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Dementia and ATXN2[original query] |
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Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clinical genetics 2013 Mar 83 (3): 279-83. Lindquist S G, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg L H, Vestergaard K, Hjermind L E, Stokholm J, Andersen B B, Johannsen P, Nielsen J |
CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. Neurobiology of aging 2012 Aug 33 (8): 1852.e1-3. Groen Ewout J N, van Rheenen Wouter, Koppers Max, van Doormaal Perry T C, Vlam Lotte, Diekstra Frank P, Dooijes Dennis, Pasterkamp R Jeroen, van den Berg Leonard H, Veldink Jan |
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders. Neurology 2014 Sep 83 (11): 990-5. Lattante Serena, Millecamps Stéphanie, Stevanin Giovanni, Rivaud-Péchoux Sophie, Moigneu Carine, Camuzat Agnès, Da Barroca Sandra, Mundwiller Emeline, Couarch Philippe, Salachas François, Hannequin Didier, Meininger Vincent, Pasquier Florence, Seilhean Danielle, Couratier Philippe, Danel-Brunaud Véronique, Bonnet Anne-Marie, Tranchant Christine, LeGuern Eric, Brice Alexis, Le Ber Isabelle, Kabashi Edor, |
Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiology of aging 2014 Oct 35 (10): 2421.e13-7. van Blitterswijk Marka, Mullen Bianca, Heckman Michael G, Baker Matthew C, DeJesus-Hernandez Mariely, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Neumann Manuela, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2016 Apr 40 191.e11-191.e16. Tsai Pei-Chien, Liu Yi-Chien, Lin Kon-Ping, Liu Yo-Tsen, Liao Yi-Chu, Hsiao Cheng-Tsung, Soong Bing-Wen, Yip Ping-Keung, Lee Yi-Chu |
Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors. Parkinsonism & related disorders 2017 Jun . Monte Thais Lampert, Pereira Fernanda Santos, Reckziegel Estela da Rosa, Augustin Marina Coutinho, Locks-Coelho Lucas Dorídio, Santos Amanda Senna P, Pedroso José Luiz, Barsottini Orlando, Vargas Fernando Regla, Saraiva-Pereira Maria-Luiza, Jardim Laura Bannach, |
Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis. Neurobiology of aging 2017 Oct . Tsai Pei-Chien, Liao Yi-Chu, Chen Po-Lin, Guo Yuh-Cherng, Chen Ying-Hao, Jih Kang-Yang, Lin Kon-Ping, Soong Bing-Wen, Tsai Ching-Paio, Lee Yi-Chu |
OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 10 177 (1): 75-85. Farhan Sali M K, Gendron Tania F, Petrucelli Leonard, Hegele Robert A, Strong Michael |
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia. Neurobiology of aging 2019 01 73 231.e7-231.e9. Rubino Elisa, Mancini Cecilia, Boschi Silvia, Ferrero Patrizia, Ferrone Marina, Bianca Stefano, Zucca Milena, Orsi Laura, Pinessi Lorenzo, Govone Flora, Vacca Alessandro, Gai Annalisa, Giordana Maria Teresa, Brusco Alfredo, Rainero Innocen |
Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease. Neurobiology of aging 2018 Sep . Gardiner Sarah L, Harder Aster V E, Campman Yvonne J M, Trompet Stella, Gussekloo Jacobijn, van Belzen Martine J, Boogaard Merel W, Roos Raymund A C, Jansen Iris E, Pijnenburg Yolande A L, Scheltens Philip, van der Flier Wiesje M, Aziz N Ahm |
Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease. Neurobiology of aging 2019 Nov . Rosas Irene, Martínez Carmen, Clarimón Jordi, Lleó Alberto, Illán-Gala Ignacio, Dols-Icardo Oriol, Borroni Barbara, Almeida Maria Rosário, van der Zee Julie, Van Broeckhoven Christine, Bruni Amalia C, Anfossi Maria, Bernardi Livia, Maletta Raffaele, Serpente María, Galimberti Daniela, Scarpini Elio, Rossi Giacomina, Caroppo Paola, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Nacmias Benedetta, Sorbi Sandro, Piaceri Irene, Bagnoli Silvia, Antonell Anna, Sánchez-Valle Raquel, De la Casa-Fages Beatriz, Grandas Francisco, Diez-Fairen Mónica, Pastor Pau, Ferrari Raffaele, Álvarez Victoria, Menéndez-González Manu |
Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances.
eLife 2019 01 8 . Timmers Paul Rhj, Mounier Ninon, Lall Kristi, Fischer Krista, Ning Zheng, Feng Xiao, Bretherick Andrew D, Clark David W, , Shen Xia, Esko Tõnu, Kutalik Zoltán, Wilson James F, Joshi Peter |
Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats. Journal of neurology, neurosurgery, and psychiatry 2022 8 93 (11): 1216-20. Chio Adriano, Moglia Cristina, Canosa Antonio, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Gallone Salvatore, Brunetti Maura, Barberis Marco, De Marchi Fabiola, Dalgard Clifton, Chia Ruth, Mora Gabriele, Iazzolino Barbara, Peotta Laura, Traynor Bryan, Corrado Lucia, D'Alfonso Sandra, Mazzini Letizia, Calvo Andr |
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