Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 40 Records) |
Query Trace: Dementia and TARDBP[original query] |
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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 |
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 |
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 |
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation. Journal of neurology, neurosurgery, and psychiatry 2017 9 89 (2): 162-168. Dols-Icardo Oriol, García-Redondo Alberto, Rojas-García Ricardo, Borrego-Hernández Daniel, Illán-Gala Ignacio, Muñoz-Blanco José Luís, Rábano Alberto, Cervera-Carles Laura, Juárez-Rufián Alexandra, Spataro Nino, De Luna Noemí, Galán Lucía, Cortes-Vicente Elena, Fortea Juan, Blesa Rafael, Grau-Rivera Oriol, Lleó Alberto, Esteban-Pérez Jesús, Gelpi Ellen, Clarimón Jor |
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 |
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 spectrum: first genetic screen in a Greek cohort. Neurobiology of aging 2018 12 75 224.e1-224.e8. Ramos Eliana Marisa, Koros Christos, Dokuru Deepika Reddy, Van Berlo Victoria, Kroupis Christos, Wojta Kevin, Wang Qing, Andronas Nikolaos, Matsi Stavroula, Beratis Ion N, Huang Alden Y, Lee Suzee E, Bonakis Anastasios, Florou-Hatziyiannidou Chryseis, Fragkiadaki Stella, Kontaxopoulou Dionysia, Agiomyrgiannakis Dimitrios, Kamtsadeli Vasiliki, Tsinia Niki, Papastefanopoulou Vasiliki, Stamelou Maria, Miller Bruce L, Stefanis Leonidas, Papatriantafyllou John D, Papageorgiou Sokratis G, Coppola Giovan |
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 |
Genetic screen in a large series of patients with primary progressive aphasia. Alzheimer's & dementia : the journal of the Alzheimer's Association 2019 1 15 (4): 553-560. Ramos Eliana Marisa, Dokuru Deepika Reddy, Van Berlo Victoria, Wojta Kevin, Wang Qing, Huang Alden Y, Miller Zachary A, Karydas Anna M, Bigio Eileen H, Rogalski Emily, Weintraub Sandra, Rader Benjamin, Miller Bruce L, Gorno-Tempini Maria Luisa, Mesulam Marek-Marsel, Coppola Giovan |
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 M, Shi J, Heckman Michael G, Spiegel Matthew R, Cook Casey, Song Yuping, Yue Mei, Daughrity Lillian M, Carlomagno Yari, Jansen-West Karen, de Castro Cristhoper Fernandez, 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 Neil R, Boeve Bradley F, Knopman David S, Petersen Ronald C, Josephs Keith A, Thompson E Aubrey, Raj Towfique, Ward Michael, Dickson Dennis W, Gendron Tania F, Fratta Pietro, Petrucelli Leona |
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 |
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 |
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 |
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 |
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 |
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 |
Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism. Neurobiology of aging 2021 6 107 168-173. Chen Sheng, Zhou Rui-Ling, Zhang Wei, Che Chun-Hui, Feng Shu-Yan, Huang Hua-Pin, Liu Chang-Yun, Zou Zhang- |
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, |
Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort. Neurobiology of aging 2022 Jul . Mathioudakis Lambros, Dimovasili Christina, Bourbouli Mara, Latsoudis Helen, Kokosali Evgenia, Gouna Garyfallia, Vogiatzi Emmanouella, Basta Maria, Kapetanaki Stefania, Panagiotakis Simeon, Kanterakis Alexandros, Boumpas Dimitrios, Lionis Christos, Plaitakis Andreas, Simos Panagiotis, Vgontzas Alexandros, Kafetzopoulos Dimitrios, Zaganas Ioann |
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 |
Genetic Spectrum and Clinical Heterogeneity of Chinese Frontotemporal Dementia Patients: Data from PUMCH Dementia Cohort. Journal of Alzheimer's disease : JAD 2022 Aug . Dong Liling, Wang Jie, Liu Caiyan, Li Jie, Mao Chenhui, Huang Xinying, Chu Shanshan, Peng Bin, Cui Liying, Gao Ji |
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study. BMC neurology 2022 12 22 (1): 454. Santamaría-García Hernando, Ogonowsky Natalia, Baez Sandra, Palacio Nicole, Reyes Pablo, Schulte Michael, López Andrea, Matallana Diana, Ibanez Agust |
TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms. Frontiers in aging neuroscience 2022 10 14 1020948. Tiloca Cinzia, Goldwurm Stefano, Calcagno Narghes, Verde Federico, Peverelli Silvia, Calini Daniela, Zecchinelli Anna Lena, Sangalli Davide, Ratti Antonia, Pezzoli Gianni, Silani Vincenzo, Ticozzi Nico |
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 Value of Longitudinal Serum Neurofilament Light Chain in Prodromal Genetic Frontotemporal Dementia. Neurology 2023 7 . Lucia A A Giannini, Harro Seelaar, Emma L van der Ende, Jackie M Poos, Lize C Jiskoot, Elise G P Dopper, Yolande A L Pijnenburg, Eline A J Willemse, Lisa Vermunt, Charlotte Teunissen, John van Swieten, Lieke H Meet |
A novel gene, TARDBP, and the protein it encodes can predict glioma patient prognosis and establish a prediction model. BMC neurology 2023 5 23 (1): 182. Xu Fang, Fan Wu, Chen Jia |
An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data. Scientific reports 2023 11 13 (1): 18805. Wonjae Sung, Jin-Ah Kim, Yong Sung Kim, Jinseok Park, Ki-Wook Oh, Jung-Joon Sung, Chang-Seok Ki, Young-Eun Kim, Seung Hyun K |
Neural stem cell homeostasis is affected in cortical organoids carrying a mutation in Angiogenin. The Journal of pathology 2024 1 . Ross Ferguson, Michael A van Es, Leonard H van den Berg, Vasanta Subramani |
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- Page last updated:Apr 22, 2024
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