Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Hemiplegia and ATP1A3[original query] |
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| No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3. JIMD reports 2014 12 115-20. Bizec C Le, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot |
| ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. PloS one 2014 9 (5): e97274. Yang Xiaoling, Gao Hua, Zhang Jie, Xu Xiaojing, Liu Xiaoyan, Wu Xiru, Wei Liping, Zhang Yueh |
| Genotype-phenotype correlations in alternating hemiplegia of childhood. Neurology 2014 Feb 82 (6): 482-90. Sasaki Masayuki, Ishii Atsushi, Saito Yoshiaki, Morisada Naoya, Iijima Kazumoto, Takada Satoshi, Araki Atsushi, Tanabe Yuko, Arai Hidee, Yamashita Sumimasa, Ohashi Tsukasa, Oda Yoichiro, Ichiseki Hiroshi, Hirabayashi Shininchi, Yasuhara Akihiro, Kawawaki Hisashi, Kimura Sadami, Shimono Masayuki, Narumiya Seiro, Suzuki Motomasa, Yoshida Takeshi, Oyazato Yoshinobu, Tsuneishi Shuichi, Ozasa Shiro, Yokochi Kenji, Dejima Sunao, Akiyama Tomoyuki, Kishi Nobuyuki, Kira Ryutaro, Ikeda Toshio, Oguni Hirokazu, Zhang Bo, Tsuji Shoji, Hirose Shinic |
| Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. Orphanet journal of rare diseases 2015 10 123. Panagiotakaki Eleni, De Grandis Elisa, Stagnaro Michela, Heinzen Erin L, Fons Carmen, Sisodiya Sanjay, de Vries Boukje, Goubau Christophe, Weckhuysen Sarah, Kemlink David, Scheffer Ingrid, Lesca Gaëtan, Rabilloud Muriel, Klich Amna, Ramirez-Camacho Alia, Ulate-Campos Adriana, Campistol Jaume, Giannotta Melania, Moutard Marie-Laure, Doummar Diane, Hubsch-Bonneaud Cecile, Jaffer Fatima, Cross Helen, Gurrieri Fiorella, Tiziano Danilo, Nevsimalova Sona, Nicole Sophie, Neville Brian, van den Maagdenberg Arn M J M, Mikati Mohamad, Goldstein David B, Vavassori Rosaria, Arzimanoglou Alexis, , , |
| Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. PloS one 2015 10 (5): e0127045. Viollet Louis, Glusman Gustavo, Murphy Kelley J, Newcomb Tara M, Reyna Sandra P, Sweney Matthew, Nelson Benjamin, Andermann Frederick, Andermann Eva, Acsadi Gyula, Barbano Richard L, Brown Candida, Brunkow Mary E, Chugani Harry T, Cheyette Sarah R, Collins Abigail, DeBrosse Suzanne D, Galas David, Friedman Jennifer, Hood Lee, Huff Chad, Jorde Lynn B, King Mary D, LaSalle Bernie, Leventer Richard J, Lewelt Aga J, Massart Mylynda B, Mérida Mario R, Ptá?ek Louis J, Roach Jared C, Rust Robert S, Renault Francis, Sanger Terry D, Sotero de Menezes Marcio A, Tennyson Rachel, Uldall Peter, Zhang Yue, Zupanc Mary, Xin Winnie, Silver Kenneth, Swoboda Kathryn |
| Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia. Molecular psychiatry 2018 6 25 (4): 821-830. Chaumette Boris, Ferrafiat Vladimir, Ambalavanan Amirthagowri, Goldenberg Alice, Dionne-Laporte Alexandre, Spiegelman Dan, Dion Patrick A, Gerardin Priscille, Laurent Claudine, Cohen David, Rapoport Judith, Rouleau Guy |
| ATP1A3 mosaicism in families with alternating hemiplegia of childhood. Clinical genetics 2019 3 96 (1): 43-52. Yang Xiaoling, Yang Xiaoxu, Chen Jiaoyang, Li Shupin, Zeng Qi, Huang August Y, Ye Adam Y, Yu Zhe, Wang Sheng, Jiang Yuwu, Wu Xiru, Wu Qixi, Wei Liping, Zhang Yueh |
| ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia. Journal of the American Heart Association 2021 8 10 (17): e019887. Moya-Mendez Mary E, Ogbonna Chiagoziem, Ezekian Jordan E, Rosamilia Michael B, Prange Lyndsey, de la Uz Caridad, Kim Jeffrey J, Howard Taylor, Garcia John, Nussbaum Robert, Truty Rebecca, Callis Thomas E, Funk Emily, Heyes Matthew, Dear Guy de Lisle, Carboni Michael P, Idriss Salim F, Mikati Mohamad A, Landstrom Andrew |
| Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 11 43 (4): 2555-2563. Wei Wen, Zheng Xiu-Fen, Ruan Dan-Dan, Gan Yu-Mian, Zhang Yan-Ping, Chen Ying, Lin Xin-Fu, Tang Fa-Qiang, Luo Jie-Wei, Li Yun-F |
| Brain structural changes in alternating hemiplegia of childhood using single-case voxel-based morphometry analysis. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2023 8 . Elly Arizono, Noriko Sato, Yoko Shigemoto, Yukio Kimura, Emiko Chiba, Hiroyuki Maki, Hiroshi Matsuda, Eri Takeshita, Yuko Shimizu-Motohashi, Masayuki Sasaki, Kazuhiro Sai |
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