Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: Amyotrophic Lateral Sclerosis and KIF5A[original query] |
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| ALS and CHARGE syndrome: a clinical and genetic study. Acta neurologica Belgica 2018 10 118 (4): 629-635. Ungaro Carmine, Citrigno Luigi, Trojsi Francesca, Sprovieri Teresa, Gentile Giulia, Muglia Maria, Monsurrò Maria Rosaria, Tedeschi Gioacchino, Cavallaro Sebastiano, Conforti Francesca Lui |
| Mutation analysis of KIF5A in Chinese amyotrophic lateral sclerosis patients. Neurobiology of aging 2018 10 73 229.e1-229.e4. Zhang Kang, Liu Qing, Shen Dongchao, Tai Hongfei, Liu Shuangwu, Wang Zhili, Shi Jiayu, Fu Hanhui, Wu Shuang, Ding Qingyun, Hu Youfang, Wu Yimin, Li Xiaoguang, Guan Yuzhou, Liu Mingsheng, Cui Liying, Zhang X |
| Hot-spot KIF5A mutations cause familial ALS. Brain : a journal of neurology 2018 1 141 (3): 688-697. Brenner David, Yilmaz Rüstem, Müller Kathrin, Grehl Torsten, Petri Susanne, Meyer Thomas, Grosskreutz Julian, Weydt Patrick, Ruf Wolfgang, Neuwirth Christoph, Weber Markus, Pinto Susana, Claeys Kristl G, Schrank Berthold, Jordan Berit, Knehr Antje, Günther Kornelia, Hübers Annemarie, Zeller Daniel, Kubisch Christian, Jablonka Sibylle, Sendtner Michael, Klopstock Thomas, de Carvalho Mamede, Sperfeld Anne, Borck Guntram, Volk Alexander E, Dorst Johannes, Weis Joachim, Otto Markus, Schuster Joachim, Del Tredici Kelly, Braak Heiko, Danzer Karin M, Freischmidt Axel, Meitinger Thomas, Strom Tim M, Ludolph Albert C, Andersen Peter M, Weishaupt Jochen H, |
| Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. Frontiers in genetics 2019 10 732. Tripolszki Kornélia, Gampawar Piyush, Schmidt Helena, Nagy Zsófia F, Nagy Dóra, Klivényi Péter, Engelhardt József I, Széll Már |
| Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. Neurogenetics 2019 2 20 (1): 27-38. Elert-Dobkowska Ewelina, Stepniak Iwona, Krysa Wioletta, Ziora-Jakutowicz Karolina, Rakowicz Maria, Sobanska Anna, Pilch Jacek, Antczak-Marach Dorota, Zaremba Jacek, Sulek An |
| Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis. Neurobiology of aging 2020 Jul . Nakamura Ryoichi, Tohnai Genki, Atsuta Naoki, Nakatochi Masahiro, Hayashi Naoki, Watanabe Hazuki, Yokoi Daichi, Watanabe Hirohisa, Katsuno Masahisa, Izumi Yuishin, Taniguchi Akira, Kanai Kazuaki, Morita Mitsuya, Kano Osamu, Kuwabara Satoshi, Oda Masaya, Abe Koji, Aoki Masashi, Aiba Ikuko, Okamoto Koichi, Mizoguchi Kouichi, Hattori Nobutaka, Nakashima Kenji, Kaji Ryuji, Sobue Gen, |
| Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis. Neurogenetics 2020 Aug . Naruse Hiroya, Ishiura Hiroyuki, Mitsui Jun, Takahashi Yuji, Matsukawa Takashi, Sakuishi Kaori, Nakamagoe Kiyotaka, Miyake Zenshi, Tamaoka Akira, Goto Jun, Yoshimura Jun, Doi Koichiro, Morishita Shinichi, Toda Tatsushi, Tsuji Sho |
| Molecular analysis and clinical diversity of distal hereditary motor neuropathy. European journal of neurology 2020 4 27 (7): 1319-1326. Liu X, Duan X, Zhang Y, Sun A, Fan |
| Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants. Frontiers in genetics 2021 8 12 682050. Ferese Rosangela, Campopiano Rosa, Scala Simona, D'Alessio Carmelo, Storto Marianna, Buttari Fabio, Centonze Diego, Logroscino Giancarlo, Zecca Chiara, Zampatti Stefania, Fornai Francesco, Cianci Vittoria, Manfroi Elisabetta, Giardina Emiliano, Magnani Mauro, Suppa Antonio, Novelli Giuseppe, Gambardella Stefa |
| [Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2022 10 54 (5): 874-883. Liu X X, Duan X H, Zhang S, Sun A P, Zhang Y S, Fan D |
| Genetic link between KIF1A mutations and amyotrophic lateral sclerosis: evidence from whole-exome sequencing. Frontiers in aging neuroscience 2024 7 16 1421841. Wei Zheng, Ji He, Lu Chen, Weiyi Yu, Nan Zhang, Xiaoxuan Liu, Dongsheng F |
| Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis. Cellular and molecular life sciences : CMLS 2024 7 81 (1): 316. Maria Guarnaccia, Giovanna Morello, Valentina La Cognata, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavalla |
| Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis. Genes 2024 6 15 (6): . Hui Wang, Liping Guan, Xiaojuan Ma, Yiying Wang, Jinhao Wang, Peipei Zhang, Min De |
- Page last reviewed:Feb 1, 2024
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