Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Ataxia and KCND3[original query] |
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A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594. Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra, |
Genetic Variants Associated with Episodic Ataxia in Korea. Scientific reports 2017 10 7 (1): 13855. Choi Kwang-Dong, Kim Ji-Soo, Kim Hyo-Jung, Jung Ileok, Jeong Seong-Hae, Lee Seung-Han, Kim Dong Uk, Kim Sang-Ho, Choi Seo Young, Shin Jin-Hong, Kim Dae-Seong, Park Kyung-Pil, Kim Hyang-Sook, Choi Jae-Hw |
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. Seizure 2019 2 66 26-30. Wang Jiaping, Wen Yongxin, Zhang Qingping, Yu Shujie, Chen Yan, Wu Xiru, Zhang YueHua, Bao Xinh |
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations. Neurology. Genetics 2021 Feb 7 (1): e546. Paucar Martin, Ågren Richard, Li Tianyi, Lissmats Simon, Bergendal Åsa, Weinberg Jan, Nilsson Daniel, Savichetva Irina, Sahlholm Kristoffer, Nilsson Johanna, Svenningsson P |
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 2022 12 8 (6): e200038. Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Vázquez-Costa Juan Francisco, Morata-Martínez Carlos, Campins-Romeu Marina, Muelas Nuria, Sastre-Bataller Isabel, Martínez-Torres Irene, Pérez-García Julia, Sivera Rafael, Sevilla Teresa, Vilchez Juan J, Jaijo Teresa, Espinós Carmen, Millán Jose M, Bataller Luis, Aller Ele |
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- Page last updated:Apr 16, 2024
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