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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 |
| Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations. Brain and behavior 2021 Aug . Feng Feng, Wang Hongfen, Liu Jiajin, Wang Zhanjun, Xu Baixuan, Zhao Kun, Tao Xiaoyong, He Zhengqing, Yang Fei, Huang Xushe |
| 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, |
| Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. The Journal of clinical investigation 2020 Aug . Prudencio Mercedes, Humphrey Jack, Pickles Sarah, Brown Anna-Leigh, Hill Sarah E, Kachergus Jennifer, Shi Ji, Heckman Michael, Spiegel Matthew, Cook Casey, Song Yuping, Yue Mei, Daughrity Lillian, Carlomagno Yari, Jansen-West Karen, Fernandez De Castro Cristhoper, DeTure Michael, Koga Shunsuke, Wang Ying-Chih, Sivakumar Prasanth, Bodo Cristian, Candalija Ana, Talbot Kevin, Selvaraj Bhuvaneish T, Burr Karen, Chandran Siddharthan, Newcombe Jia, Lashley Tammaryn, Hubbard Isabel, Catalano Demetra, Kim Duyang, Propp Nadia, Fennessey Samantha, Fagegaltier Delphine, Phatnani Hemali, Secrier Maria, Fisher Elizabeth Mc, Oskarsson Björn, van Blitterswijk Marka, Rademakers Rosa, Graff-Radford Neill R, Boeve Bradley, Knopman David S, Petersen Ronald, Josephs Keith, Thompson E Aubrey, Raj Towfique, Ward Michael E, Dickson Dennis, Gendron Tania F, Fratta Pietro, Petrucelli Leona |
| Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 Jan 16 (1): 118-130. Ramos Eliana Marisa, Dokuru Deepika Reddy, Van Berlo Victoria, Wojta Kevin, Wang Qing, Huang Alden Y, Deverasetty Sandeep, Qin Yue, van Blitterswijk Marka, Jackson Jazmyne, Appleby Brian, Bordelon Yvette, Brannelly Patrick, Brushaber Danielle E, Dickerson Bradford, Dickinson Susan, Domoto-Reilly Kimiko, Faber Kelley, Fields Julie, Fong Jamie, Foroud Tatiana, Forsberg Leah K, Gavrilova Ralitza, Ghoshal Nupur, Goldman Jill, Graff-Radford Jonathan, Graff-Radford Neill, Grant Ian, Grossman Murray, Heuer Hilary W, Hsiung Ging-Yuek R, Huey Edward, Irwin David, Kantarci Kejal, Karydas Anna, Kaufer Daniel, Kerwin Diana, Knopman David, Kornak John, Kramer Joel H, Kremers Walter, Kukull Walter, Litvan Irene, Ljubenkov Peter, Lungu Codrin, Mackenzie Ian, Mendez Mario F, Miller Bruce L, Onyike Chiadi, Pantelyat Alexander, Pearlman Rodney, Petrucelli Len, Potter Madeline, Rankin Katherine P, Rascovsky Katya, Roberson Erik D, Rogalski Emily, Shaw Leslie, Syrjanen Jeremy, Tartaglia Maria Carmela, Tatton Nadine, Taylor Joanne, Toga Arthur, Trojanowski John Q, Weintraub Sandra, Wong Bonnie, Wszolek Zbigniew, Rademakers Rosa, Boeve Brad F, Rosen Howard J, Boxer Adam L, , Coppola Giovan |
| Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing. Clinical interventions in aging 2020 15 1831-1839. Han Li-Hong, Xue Yan-Yan, Zheng Yi-Cen, Li Xiao-Yan, Lin Rong-Rong, Wu Zhi-Ying, Tao Qing-Qi |
| Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration. Journal of Alzheimer's disease : JAD 2019 May . Luukkainen Laura, Helisalmi Seppo, Kytövuori Laura, Ahmasalo Riitta, Solje Eino, Haapasalo Annakaisa, Hiltunen Mikko, Remes Anne M, Krüger Johan |
| 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 |
| The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul . Blauwendraat Cornelis, Wilke Carlo, Simón-Sánchez Javier, Jansen Iris E, Reifschneider Anika, Capell Anja, Haass Christian, Castillo-Lizardo Melissa, Biskup Saskia, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matth |
| 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 |
| 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 |
| Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism. Neurobiology of aging 2015 Feb 36 (2): 1121-9. Vanden Broeck Lies, Kleinberger Gernot, Chapuis Julien, Gistelinck Marc, Amouyel Philippe, Van Broeckhoven Christine, Lambert Jean-Charles, Callaerts Patrick, Dermaut Ba |
| Mutational analysis of TARDBP in Parkinson's disease. Neurobiology of aging 2013 May 34 (5): 1517.e1-3. van Blitterswijk Marka, van Es Michael A, Verbaan Dagmar, van Hilten Jacobus J, Scheffer Hans, van de Warrenburg Bart P, Veldink Jan H, van den Berg Leonard |
| 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 |
| 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 |
| 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 |
| Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis. Journal of the neurological sciences 2009 Sep 284 (1-2): 69-71. Kamada Masaki, Maruyama Hirofumi, Tanaka Eiji, Morino Hiroyuki, Wate Reika, Ito Hidefumi, Kusaka Hirofumi, Kawano Yuji, Miki Tetsuro, Nodera Hiroyuki, Izumi Yuishin, Kaji Ryuji, Kawakami Hides |
| Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiology of aging 2009 Aug 30 (8): 1329-31. Gijselinck Ilse, Sleegers Kristel, Engelborghs Sebastiaan, Robberecht Wim, Martin Jean-Jacques, Vandenberghe Rik, Sciot Raf, Dermaut Bart, Goossens Dirk, van der Zee Julie, De Pooter Tim, Del-Favero Jurgen, Santens Patrick, De Jonghe Peter, De Deyn Peter P, Van Broeckhoven Christine, Cruts Ma |
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- Page last updated:Jun 28, 2022
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