HuGE Literature Finder
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| 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 |
| 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 |
| 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 |
| 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 |
| 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, |
| Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort. Neurology 2020 Nov . Grassano Maurizio, Calvo Andrea, Moglia Cristina, Brunetti Maura, Barberis Marco, Sbaiz Luca, Canosa Antonio, Manera Umberto, Vasta Rosario, Corrado Lucia, D'Alfonso Sandra, Mazzini Letizia, Scholz Sonja W, Dalgard Clifton, Ding Jinhui, Gibbs Raphael J, Chia Ruth, Traynor Bryan J, Chiò Adriano, |
| Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis. Aging and disease 2019 Dec 10 (6): 1199-1206. Liu Zhi-Jun, Lin Hui-Xia, Wei Qiao, Zhang Qi-Jie, Chen Cong-Xin, Tao Qing-Qing, Liu Gong-Lu, Ni Wang, Gitler Aaron D, Li Hong-Fu, Wu Zhi-Yi |
| Rare, low-frequency and common coding variants of ARHGEF28 gene and their association with sporadic amyotrophic lateral sclerosis. Neurobiology of aging 2019 Mar . Song Yang, Lin Feng, Ye Cheng-Hui, Huang Huaping, Li Xuying, Yao Xiaoli, Xu Yanming, Wang Chaodo |
| 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 |
| Novel and Recurrent Mutations in a Cohort of Chinese Patients With Young-Onset Amyotrophic Lateral Sclerosis. Frontiers in neuroscience 2019 13 1289. Deng Jianwen, Wu Wei, Xie Zhiying, Gang Qiang, Yu Meng, Liu Jing, Wang Qingqing, Lv He, Zhang Wei, Huang Yining, Wang Tao, Yuan Yun, Hong Daojun, Wang Zhaox |
| The multistep hypothesis of ALS revisited: The role of genetic mutations. Neurology 2018 Aug 91 (7): e635-e642. Chiò Adriano, Mazzini Letizia, D'Alfonso Sandra, Corrado Lucia, Canosa Antonio, Moglia Cristina, Manera Umberto, Bersano Enrica, Brunetti Maura, Barberis Marco, Veldink Jan H, van den Berg Leonard H, Pearce Neil, Sproviero William, McLaughlin Russell, Vajda Alice, Hardiman Orla, Rooney James, Mora Gabriele, Calvo Andrea, Al-Chalabi Amm |
| Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria. Journal of the neurological sciences 2018 Jul 390 209-211. Gagliardi Monica, Arabia Gennarina, Nisticò Rita, Iannello Grazia, Procopio Radha, Manfredini Lucia, Annesi Grazia, Quattrone Al |
| Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis. Neurobiology of aging 2018 May . Narain Priyam, Pandey Ashutosh, Gupta Shruti, Gomes James, Bhatia Rohit, Vivekanandan Perum |
| 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 |
| A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain : a journal of neurology 2017 Jun 140 (6): 1611-1618. Morgan Sarah, Shatunov Aleksey, Sproviero William, Jones Ashley R, Shoai Maryam, Hughes Deborah, Al Khleifat Ahmad, Malaspina Andrea, Morrison Karen E, Shaw Pamela J, Shaw Christopher E, Sidle Katie, Orrell Richard W, Fratta Pietro, Hardy John, Pittman Alan, Al-Chalabi Amm |
| The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis. Clinical genetics 2017 Mar . Liu Z-J, Lin H-X, Liu G-L, Tao Q-Q, Ni W, Xiao B-G, Wu Z |
| Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis. Journal of neurology, neurosurgery, and psychiatry 2017 Jan . Zou Zhang-Yu, Zhou Zhi-Rui, Che Chun-Hui, Liu Chang-Yun, He Rao-Li, Huang Hua-P |
| The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia. Clinical genetics 2017 Jan . McCann Emily P, Williams Kelly L, Fifita Jennifer A, Tarr Ingrid S, O'Connor Jody, Rowe Dominic B, Nicholson Garth A, Blair Ian |
| Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis. Neurobiology of aging 2017 05 53 194.e1-194.e8. Nishiyama Ayumi, Niihori Tetsuya, Warita Hitoshi, Izumi Rumiko, Akiyama Tetsuya, Kato Masaaki, Suzuki Naoki, Aoki Yoko, Aoki Masas |
| DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis. PloS one 2017 12 (8): e0182572. Liu Xiangyi, Yang Lipeng, Tang Lu, Chen Lu, Liu Xiaolu, Fan Dongshe |
| Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center. Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 Dec 1-7. Chadi Gerson, Maximino Jessica Ruivo, Jorge Frederico Mennucci de Haidar, Borba FabríCIO Castro dE, Gilio Joyce Meire, Callegaro Dagoberto, Lopes Camila GalvãO, Santos Samantha Nakamura Dos, Rebelo Gabriela Natania Sal |
| Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis. Molecular neurobiology 2016 Apr . Zhou QingQing, Chen YongPing, Wei QianQian, Cao Bei, Wu Ying, Zhao Bi, Ou RuWei, Yang Jing, Chen XuePing, Hadano Shinji, Shang Hui-Fa |
| 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 |
| Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China. Scientific reports 2016 6 32478. Hou Lihua, Jiao Bin, Xiao Tingting, Zhou Lu, Zhou Zhifan, Du Juan, Yan Xinxiang, Wang Junling, Tang Beisha, Shen |
| Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers. Neurobiology of aging 2015 Dec . Dekker Annelot M, Seelen Meinie, van Doormaal Perry T C, van Rheenen Wouter, Bothof Reinoud J P, van Riessen Tim, Brands William J, van der Kooi Anneke J, de Visser Marianne, Voermans Nicol C, Pasterkamp R Jeroen, Veldink Jan H, van den Berg Leonard H, van Es Michael |
| Genetic studies of Russian patients with amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration 2015 Nov 1-7. Lysogorskaia Elena V, Abramycheva Nataliya Yu, Zakharova Mariya N, Stepanova Mariya S, Moroz Anna A, Rossokhin Alexey V, Illarioshkin Sergey |
| 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 |
| A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: the TARDBP Ala382Thr mutation and C9orf72 expansion. Journal of the neurological sciences 2015 Oct 357 (1-2): 229-34. Lorefice L, Murru , Fenu G, Corongiu D, Frau J, Cuccu S, Coghe G C, Tranquilli S, Cocco E, Marrosu M |
| Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS. Neuropathology : official journal of the Japanese Society of Neuropathology 2015 Aug . Bury Joanna J, Highley J Robin, Cooper-Knock Johnathan, Goodall Emily F, Higginbottom Adrian, McDermott Christopher J, Ince Paul G, Shaw Pamela J, Kirby Jani |
| ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation. Acta neuropathologica communications 2015 3 62. King Andrew, Troakes Claire, Smith Bradley, Nolan Matthew, Curran Olimpia, Vance Caroline, Shaw Christopher E, Al-Sarraj Sa |
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- Page last updated:Jun 28, 2022
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