Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Frontotemporal Dementia and Sod1[original query] |
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| Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS. Annals of neurology 2004 1 55 (1): 134-8. Prudlo Johannes, Alber Burkhard, Kalscheuer Vera M, Roemer Klaus, Martin Thomas, Dullinger Joern, Sittinger Helmut, Niemann Stephan, Heutink Peter, Ludolph Albert C, Ropers Hilger H, Zang Klaus, Meyer Thom |
| SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis. Journal of neurology 2009 Feb 256 (2): 234-41. Wicks P, Abrahams S, Papps B, Al-Chalabi A, Shaw C E, Leigh P N, Goldstein L |
| FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. Journal of neurology, neurosurgery, and psychiatry 2010 Jun 81 (6): 639-45. Blair Ian P, Williams Kelly L, Warraich Sadaf T, Durnall Jennifer C, Thoeng Annora D, Manavis Jim, Blumbergs Peter C, Vucic Steve, Kiernan Matthew C, Nicholson Garth |
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.
The Lancet. Neurology 2010 Oct 9 (10): 978-85. Laaksovirta Hannu, Peuralinna Terhi, Schymick Jennifer C, Scholz Sonja W, Lai Shaoi-Lin, Myllykangas Liisa, Sulkava Raimo, Jansson Lilja, Hernandez Dena G, Gibbs J Raphael, Nalls Michael A, Heckerman David, Tienari Pentti J, Traynor Bryan |
| Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology 2010 Aug 75 (9): 807-14. Yan J, Deng H-X, Siddique N, Fecto F, Chen W, Yang Y, Liu E, Donkervoort S, Zheng J G, Shi Y, Ahmeti K B, Brooks B, Engel W K, Siddique |
| The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. European journal of human genetics : EJHG 2013 Jan 21 (1): 102-8. Smith Bradley N, Newhouse Stephen, Shatunov Aleksey, Vance Caroline, Topp Simon, Johnson Lauren, Miller Jack, Lee Younbok, Troakes Claire, Scott Kirsten M, Jones Ashley, Gray Ian, Wright Jamie, Hortobágyi Tibor, Al-Sarraj Safa, Rogelj Boris, Powell John, Lupton Michelle, Lovestone Simon, Sapp Peter C, Weber Markus, Nestor Peter J, Schelhaas Helenius J, Asbroek Anneloor Alm Ten, Silani Vincenzo, Gellera Cinzia, Taroni Franco, Ticozzi Nicola, Van den Berg Leonard, Veldink Jan, Van Damme Phillip, Robberecht Wim, Shaw Pamela J, Kirby Janine, Pall Hardev, Morrison Karen E, Morris Alex, de Belleroche Jacqueline, Vianney de Jong J M B, Baas Frank, Andersen Peter M, Landers John, Brown Robert H, Weale Michael E, Al-Chalabi Ammar, Shaw Christopher |
| Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. Journal of medical genetics 2012 Apr 49 (4): 258-63. Millecamps Stéphanie, Boillée Séverine, Le Ber Isabelle, Seilhean Danielle, Teyssou Elisa, Giraudeau Marine, Moigneu Carine, Vandenberghe Nadia, Danel-Brunaud Véronique, Corcia Philippe, Pradat Pierre-François, Le Forestier Nadine, Lacomblez Lucette, Bruneteau Gaelle, Camu William, Brice Alexis, Cazeneuve Cécile, Leguern Eric, Meininger Vincent, Salachas Franço |
| Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain : a journal of neurology 2012 Mar 135 (Pt 3): 784-93. Chiò Adriano, Borghero Giuseppe, Restagno Gabriella, Mora Gabriele, Drepper Carsten, Traynor Bryan J, Sendtner Michael, Brunetti Maura, Ossola Irene, Calvo Andrea, Pugliatti Maura, Sotgiu Maria Alessandra, Murru Maria Rita, Marrosu Maria Giovanna, Marrosu Francesco, Marinou Kalliopi, Mandrioli Jessica, Sola Patrizia, Caponnetto Claudia, Mancardi Gianluigi, Mandich Paola, La Bella Vincenzo, Spataro Rossella, Conte Amelia, Monsurrò Maria Rosaria, Tedeschi Gioacchino, Pisano Fabrizio, Bartolomei Ilaria, Salvi Fabrizio, Lauria Pinter Giuseppe, Simone Isabella, Logroscino Giancarlo, Gambardella Antonio, Quattrone Aldo, Lunetta Christian, Volanti Paolo, Zollino Marcella, Penco Silvana, Battistini Stefania, , Renton Alan E, Majounie Elisa, Abramzon Yevgeniya, Conforti Francesca Luisa, Giannini Fabio, Corbo Massimo, Sabatelli Mar |
| Extensive genetics of ALS: a population-based study in Italy. Neurology 2012 Nov 79 (19): 1983-9. Chiò Adriano, Calvo Andrea, Mazzini Letizia, Cantello Roberto, Mora Gabriele, Moglia Cristina, Corrado Lucia, D'Alfonso Sandra, Majounie Elisa, Renton Alan, Pisano Fabrizio, Ossola Irene, Brunetti Maura, Traynor Bryan J, Restagno Gabriella, |
| Two distinct clinical features and cognitive impairment in amyotrophic lateral sclerosis patients with TARDBP gene mutations in the Chinese population. Neurobiology of aging 2015 Nov . Ju XiaoDong, Liu WenChao, Li XiaoGang, Liu Na, Zhang Nan, Liu Tao, Deng M |
| 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 |
| 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 |
| 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 |
| Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2018 6 70 325.e7-325.e15. Gromicho Marta, Pinto Susana, Gisca Eugeniu, Pronto-Laborinho Ana Catarina, Andersen Peter M, de Carvalho Mame |
| Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum. JAMA neurology 2018 Jul 75 (7): 860-875. Karch Celeste M, Wen Natalie, Fan Chun C, Yokoyama Jennifer S, Kouri Naomi, Ross Owen A, Höglinger Gunter, Müller Ulrich, Ferrari Raffaele, Hardy John, Schellenberg Gerard D, Sleiman Patrick M, Momeni Parastoo, Hess Christopher P, Miller Bruce L, Sharma Manu, Van Deerlin Vivianna, Smeland Olav B, Andreassen Ole A, Dale Anders M, Desikan Rahul S, |
| 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 |
| Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms. Journal of clinical medicine 2020 2 9 (2): . Pensato Viviana, Magri Stefania, Bella Eleonora Dalla, Tannorella Pierpaola, Bersano Enrica, Sorarù Gianni, Gatti Marta, Ticozzi Nicola, Taroni Franco, Lauria Giuseppe, Mariotti Caterina, Gellera Cinz |
| ALS phenotype is influenced by age, sex, and genetics: A population-based study. Neurology 2020 Jan . Chiò Adriano, Moglia Cristina, Canosa Antonio, Manera Umberto, D'Ovidio Fabrizio, Vasta Rosario, Grassano Maurizio, Brunetti Maura, Barberis Marco, Corrado Lucia, D'Alfonso Sandra, Iazzolino Barbara, Peotta Laura, Sarnelli Maria Francesca, Solara Valentina, Zucchetti Jean Pierre, De Marchi Fabiola, Mazzini Letizia, Mora Gabriele, Calvo Andr |
| 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 |
| Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. Journal of neurology 2021 Mar . Bartoletti-Stella Anna, Vacchiano Veria, De Pasqua Silvia, Mengozzi Giacomo, De Biase Dario, Bartolomei Ilaria, Avoni Patrizia, Rizzo Giovanni, Parchi Piero, Donadio Vincenzo, Chiò Adriano, Pession Annalisa, Oppi Federico, Salvi Fabrizio, Liguori Rocco, Capellari Sabina, |
| 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 |
| 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 |
| Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes. European journal of nuclear medicine and molecular imaging 2022 1 49 (7): 2242-2250. Canosa Antonio, Calvo Andrea, Moglia Cristina, Vasta Rosario, Palumbo Francesca, Solero Luca, Di Pede Francesca, Cabras Sara, Arena Vincenzo, Zocco Grazia, Casale Federico, Brunetti Maura, Sbaiz Luca, Gallone Salvatore, Grassano Maurizio, Manera Umberto, Pagani Marco, Chiò Adria |
| Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations. Brain communications 2023 4 5 (2): fcad087. Wiesenfarth Maximilian, Günther Kornelia, Müller Kathrin, Witzel Simon, Weiland Ulrike, Mayer Kristina, Herrmann Christine, Brenner David, Schuster Joachim, Freischmidt Axel, Lulé Dorothée, Meyer Thomas, Regensburger Martin, Grehl Torsten, Emmer Alexander, Petri Susanne, Großkreutz Julian, Rödiger Annekathrin, Steinbach Robert, Klopstock Thomas, Reilich Peter, Schöberl Florian, Wolf Joachim, Hagenacker Tim, Weyen Ute, Zeller Daniel, Ludolph Albert C, Dorst Johann |
| Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients. Journal of neuromuscular diseases 2024 7 . Daniel Baumgartner, Zuzana Mušová, Jana Zídková, Petra Hedvi?áková, Eva Vl?ková, Lubica Joppeková, Tereza Kramá?ová, Lenka Fajkusová, Viktor Stránecký, Jan Geryk, Pavel Votýpka, Radim Mazan |
| TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy. Neurology. Genetics 2024 6 10 (3): e200160. Vincent Picher-Martel, Suma Babu, Anthony A Ama |
| Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study. Journal of neurology 2024 6 . Dongchao Shen, Xunzhe Yang, Di He, Kang Zhang, Shuangwu Liu, Xiaohan Sun, Jinyue Li, Zhengyi Cai, Mingsheng Liu, Xue Zhang, Qing Liu, Liying C |
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