HuGE Literature Finder
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| Clinico-genetic findings in 509 frontotemporal dementia patients. Molecular psychiatry 2021 Sep . Wagner Matias, Lorenz Georg, Volk Alexander E, Brunet Theresa, Edbauer Dieter, Berutti Riccardo, Zhao Chen, Anderl-Straub Sarah, Bertram Lars, Danek Adrian, Deschauer Marcus, Dill Veronika, Fassbender Klaus, Fliessbach Klaus, Götze Katharina S, Jahn Holger, Kornhuber Johannes, Landwehrmeyer Bernhard, Lauer Martin, Obrig Hellmuth, Prudlo Johannes, Schneider Anja, Schroeter Matthias L, Uttner Ingo, Vukovich Ruth, Wiltfang Jens, Winkler Andrea S, Zhou Qihui, Ludolph Albert C, , Oexle Konrad, Otto Markus, Diehl-Schmid Janine, Winkelmann Julia |
| 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, |
| The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients. Frontiers in aging neuroscience 2021 13 699836. Liu Li, Cui Bo, Chu Min, Cui Yue, Jing Donglai, Li Dan, Xie Kexin, Kong Yu, Xia Tianxinyu, Wang Chaodong, Wu Liyo |
| 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 |
| 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 |
| Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population. Journal of human genetics 2016 Dec 61 (12): 1003-1008. Shi Zhihong, Liu Shuai, Xiang Lei, Wang Ying, Liu Mengyuan, Liu Shuling, Han Tong, Zhou Yuying, Wang Jinhuan, Cai Li, Gao Shuo, Ji Yo |
| 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 |
| Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PloS one 2016 11 (9): e0162592. Guven Gamze, Lohmann Ebba, Bras Jose, Gibbs J Raphael, Gurvit Hakan, Bilgic Basar, Hanagasi Hasmet, Rizzu Patrizia, Heutink Peter, Emre Murat, Erginel-Unaltuna Nihan, Just Walter, Hardy John, Singleton Andrew, Guerreiro Ri |
| Rare variants in ß-Amyloid precursor protein (APP) and Parkinson's disease. European journal of human genetics : EJHG 2015 Oct 23 (10): 1328-33. Schulte Eva C, Fukumori Akio, Mollenhauer Brit, Hor Hyun, Arzberger Thomas, Perneczky Robert, Kurz Alexander, Diehl-Schmid Janine, Hüll Michael, Lichtner Peter, Eckstein Gertrud, Zimprich Alexander, Haubenberger Dietrich, Pirker Walter, Brücke Thomas, Bereznai Benjamin, Molnar Maria J, Lorenzo-Betancor Oswaldo, Pastor Pau, Peters Annette, Gieger Christian, Estivill Xavier, Meitinger Thomas, Kretzschmar Hans A, Trenkwalder Claudia, Haass Christian, Winkelmann Julia |
| Investigating FUS variation in Parkinson's disease. Parkinsonism & related disorders 2014 Jan 20S1 . Labbé C, Rayaprolu S, Soto-Ortolaza A, Ogaki K, Uitti RJ, Wszolek ZK, Ross OA |
| 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 |
| 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, |
| 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 |
| The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene. Acta neuropathologica 2011 Jul 122 (1): 99-110. Snowden Julie S, Hu Quan, Rollinson Sara, Halliwell Nicola, Robinson Andrew, Davidson Yvonne S, Momeni Parastoo, Baborie Atik, Griffiths Timothy D, Jaros Evelyn, Perry Robert H, Richardson Anna, Pickering-Brown Stuart M, Neary David, Mann David M |
| 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 |
| 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 |
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- Page last updated:Aug 10, 2022
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