Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 115 Records) |
Query Trace: Sclerosis and TARDBP[original query] |
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Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population. Journal of medical genetics 2021 Sep . Chen Yong-Ping, Yu Shi-Hui, Wei Qian-Qian, Cao Bei, Gu Xiao-Jing, Chen Xue-Ping, Song Wei, Zhao Bi, Wu Ying, Sun Ming-Ming, Liu Fei-Fei, Hou Yan-Bing, Ou Ru-Wei, Zhang Ling-Yu, Liu Kun-Cheng, Lin Jun-Yu, Xu Xin-Ran, Li Chun-Yu, Yang Jing, Jiang Zheng, Liu Jiao, Cheng Yang-Fan, Xiao Yi, Chen Ke, Feng Fei, Cai Ying-Ying, Li Shi-Rong, Hu Tao, Yuan Xiao-Qin, Guo Xiao-Yan, Liu Hui, Han Qing, Zhou Qing-Qing, Shao Na, Li Jian-Peng, Pan Ping-Lei, Ma Sha, Shang Hui-Fa |
Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects. BMC medical genomics 2021 Sep 14 (1): 222. Lin Feng, Lin Wanhui, Zhu Chaofeng, Lin Jilan, Zhu Junge, Li Xu-Ying, Wang Zhanjun, Wang Chaodong, Huang Huap |
Genotype-phenotype correlations in a chinese population with familial amyotrophic lateral sclerosis. Neurological research 2021 8 44 (3): 206-216. Liu WenChao, Li XiaoGang, Sun Yan, Yu XiaoTong, Wang Yan, Liu Na, Deng M |
Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS). Neurobiology of aging 2021 Jul . Edgar Suzanna, Ellis Melina, Abdul-Aziz Nur Adilah, Goh Khean-Jin, Shahrizaila Nortina, Kennerson Marina L, Ahmad-Annuar Azli |
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, |
Genetic epidemiology of familial ALS in Brazil. Neurobiology of aging 2021 2 102 227.e1-227.e4. Nunes Gonçalves João Pedro, Leoni Tauana Bernardes, Martins Melina Pazian, Peluzzo Thiago Mazzo, Dourado Mario Emílio T, Saute Jonas Alex M, Paranhos Miranda Covaleski Anna Paula, Bulle de Oliveira Acary Souza, Claudino Rinaldo, Marques Wilson, Nucci Anamarli, França Marcondes |
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 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 |
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 |
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 |
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 |
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 16, 2024
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