Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 143 Records) |
Query Trace: TARDBP[original query] |
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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 |
Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis. Neurobiology of aging 2022 Aug 120 27-33. Kacem Imen, Sghaier Ikram, Peverelli Silvia, Souissi Emira, Ticozzi Nicola, Gharbi Alya, Ratti Antonia, Berrechid Amina Gargouri, Silani Vincenzo, Gouider Ria |
Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China. BMC medical genomics 2022 8 15 (1): 173. Xu Fanxi, Huang Sen, Li Xu-Ying, Lin Jianing, Feng Xiuli, Xie Shu, Wang Zhanjun, Li Xian, Zhu Junge, Lai Hong, Xu Yanming, Huang Xusheng, Yao Xiaoli, Wang Chaodo |
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 |
Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants. Neurology 2022 8 99 (18): e2052-62. Bella Eleonora Dalla, Bersano Enrica, Bruzzone Maria Grazia, Gellera Cinzia, Pensato Viviana, Lauria Giuseppe, Consonni Moni |
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 |
Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations. Frontiers in neurology 2022 8 13 931006. Spinelli Edoardo Gioele, Ghirelli Alma, Riva Nilo, Canu Elisa, Castelnovo Veronica, Domi Teuta, Pozzi Laura, Carrera Paola, Silani Vincenzo, Chiò Adriano, Filippi Massimo, Agosta Federi |
Genetics of progressive supranuclear palsy in a Chinese population. Neurobiology of disease 2022 Jul 172 105819. Xiao Xuewen, Yang Qijie, Wen Yafei, Jiao Bin, Liao Xinxin, Zhou Yafang, Weng Ling, Liu Hui, Xu Tianyan, Zhu Yuan, Guo Lina, Zhou Lu, Wang Xin, Liu Xixi, Bi Xiangyun, Liu Yingzi, Zhang Sizhe, Zhang Weiwei, Li Jinchen, Tang Beisha, Shen |
Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis. BMC medicine 2022 6 20 (1): 209. Su Wei-Ming, Gu Xiao-Jing, Duan Qing-Qing, Jiang Zheng, Gao Xia, Shang Hui-Fang, Chen Yong-Pi |
A molecular view of amyotrophic lateral sclerosis through the lens of interaction network modules. PloS one 2022 5 17 (5): e0268159. Jensen Klaus Højgaard, Stalder Anna Katharina, Wernersson Rasmus, Roloff-Handschin Tim-Christoph, Hansen Daniel Hvidberg, Groenen Peter M |
Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature. Journal of neurology 2022 Mar . Li Jinyue, Liu Qing, Sun Xiaohan, Zhang Kang, Liu Shuangwu, Wang Zhili, Yang Xunzhe, Liu Mingsheng, Cui Liying, Zhang X |
Causal associations of genetic factors with clinical progression in amyotrophic lateral sclerosis. Computer methods and programs in biomedicine 2022 2 216 106681. Ahangaran Meysam, Chiò Adriano, D'Ovidio Fabrizio, Manera Umberto, Vasta Rosario, Canosa Antonio, Moglia Cristina, Calvo Andrea, Minaei-Bidgoli Behrouz, Jahed-Motlagh Mohammad-Re |
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 |
Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis. Neurology. Genetics 2022 10 8 (6): e200033. Calvo Andrea, Canosa Antonio, Moglia Cristina, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Cugnasco Paolo, Gallone Salvatore, Brunetti Maura, De Marchi Fabiola, Arena Vincenzo, Pagani Marco, Dalgard Clifton, Scholz Sonja W, Chia Ruth, Corrado Lucia, Dalfonso Sandra, Mazzini Letizia, Traynor Bryan J, Chio Adria |
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 |
Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum. Research square 2023 8 . Ting Shen, Jacob W Vogel, Jeffrey Duda, Jeffrey S Phillips, Philip A Cook, James Gee, Lauren Elman, Colin Quinn, Defne A Amado, Michael Baer, Lauren Massimo, Murray Grossman, David J Irwin, Corey T McMill |
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 |
Spatial clustering of amyotrophic lateral sclerosis in Sardinia, Italy: The contribution of age, sex, and genetic factors. Muscle & nerve 2023 7 . Giuseppe Borghero, Maria Margherita Sechi, Rosario Vasta, Vincenzo Pierri, Francesca Pili, Ida Pateri, Silvy Pilotto, Tommaso Ercoli, Antonella Muroni, Adriano Chiò, Giovanni Defaz |
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 |
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis. Neurology 2023 5 . Adriano Chio, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Rosario Vasta, Francesca Palumbo, Salvatore Gallone, Maura Brunetti, Marco Barberis, Fabiola De Marchi, Clifton Dalgard, Ruth Chia, Gabriele Mora, Barbara Iazzolino, Laura Peotta, Bryan J Traynor, Lucia Corrado, Sandra Dalfonso, Letizia Mazzini, Andrea Cal |
Risk factors of amyotrophic lateral sclerosis: a global meta-summary. Frontiers in neuroscience 2023 5 17 1177431. Qing-Qing Duan, Zheng Jiang, Wei-Ming Su, Xiao-Jing Gu, Han Wang, Yang-Fan Cheng, Bei Cao, Xia Gao, Yi Wang, Yong-Ping Ch |
Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis. European journal of neurology 2023 2 . Lattante Serena, Sabatelli Mario, Bisogni Giulia, Marangi Giuseppe, Doronzio Paolo Niccolò, Martello Francesco, Renzi Anna Gloria, Del Giudice Elda, Leon Alberta, Cimbolli Paola, Marchione Daniela, Costantino Umberto, Lucioli Gabriele, Bernardo Daniela, Meleo Emiliana, Patanella Agata Katia, Romano Angela, Zollino Marcella, Conte Amel |
Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis. Journal of neurology 2023 11 . Teuta Domi, Paride Schito, Giacomo Sferruzza, Tommaso Russo, Laura Pozzi, Federica Agosta, Paola Carrera, Nilo Riva, Massimo Filippi, Angelo Quattrini, Yuri Matteo Falzo |
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 |
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. medRxiv : the preprint server for health sciences 2023 10 . Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, Hemali Phatnani, , Timothy J Aitman, Javier Santoyo-Lopez, , Hiroshi Mitsumoto, , , , David B Goldstein, Matthew B Har |
Disease survival and progression in TARDBP ALS patients from Sardinia, Italy. Journal of neurology 2023 10 . Giuseppe Borghero, Francesca Pili, Antonella Muroni, Tommaso Ercoli, Maria Ida Pateri, Silvy Pilotto, Alessandra Maccabeo, Giovanni Defaz |
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 |
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. Research square 2024 1 . Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, Hemali Phatnani, , Timothy J Aitman, Javier Santoyo-Lopez, , Hiroshi Mitsumoto, , David B Goldstein, Matthew B Har |
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- Page last updated:Apr 22, 2024
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