Human Genome Epidemiology Literature Finder
|
Records 1 - 26 (of 26 Records) |
| Query Trace: ATP1A3[original query] |
|---|
| Association between sodium- and potassium-activated adenosine triphosphatase alpha isoforms and bipolar disorders. Biological psychiatry 2009 Jun 65 (11): 985-91. Goldstein Inbal, Lerer Elad, Laiba Efrat, Mallet Jacques, Mujaheed Mustafa, Laurent Claudine, Rosen Haim, Ebstein Richard P, Lichtstein Dav |
| Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibility. Psychopharmacology 2011 Apr 214 (3): 729-36. Kasten Meike, Brüggemann Norbert, König Inke R, Doerry Katja, Steinlechner Susanne, Wenzel Liv, Lohmann Katja, Klein Christine, Lencer Rebek |
| Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias. Parkinsonism & related disorders 2012 May 18 (4): 351-7. Newman Jeremy R B, Sutherland Greg T, Boyle Richard S, Limberg Nicole, Blum Stefan, O'Sullivan John D, Silburn Peter A, Mellick George |
| 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, , , |
| Common variants of ATP1A3 but not ATP1A2 are associated with Chinese genetic generalized epilepsies. Journal of the neurological sciences 2015 Jul 354 (1-2): 56-62. Qu Jian, Yang Zhi-Quan, Zhang Ying, Mao Chen-Xue, Wang Zhi-Bin, Mao Xiao-Yuan, Zhou Bo-Ting, Yin Ji-Ye, He Hui, Long Hong-Yu, Gong Jia-E, Xiao Bo, Zhou Hong-Hao, Liu Zhao-Qi |
| 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 |
| ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. Scientific reports 2017 11 7 (1): 16504. Han Kyu-Hee, Oh Doo-Yi, Lee Seungmin, Lee Chung, Han Jin Hee, Kim Min Young, Park Hye-Rim, Park Moo Kyun, Kim Nayoung K D, Lee Jaekwang, Yi Eunyoung, Kim Jong-Min, Kim Jeong-Whun, Chae Jong-Hee, Oh Seung Ha, Park Woong-Yang, Choi Byung Yo |
| Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genetics in medicine : official journal of the American College of Medical Genetics 2018 6 21 (1): 195-206. Sun Miao, Johnson Amy Knight, Nelakuditi Viswateja, Guidugli Lucia, Fischer David, Arndt Kelly, Ma Lan, Sandford Erin, Shakkottai Vikram, Boycott Kym, Warman-Chardon Jodi, Li Zejuan, Del Gaudio Daniela, Burmeister Margit, Gomez Christopher M, Waggoner Darrel J, Das So |
| 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 |
| Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy. Frontiers in neurology 2018 12 9 947. Kessi Miriam, Xiong Juan, Wu Liwen, Yang Lifen, He Fang, Chen Chen, Pang Nan, Duan Haolin, Zhang Wen, Arafat Ahmed, Yin Fei, Peng Ji |
| 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 |
| Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population. Human genomics 2020 Sep 14 (1): 28. Tsang Mandy H Y, Kwong Anna K Y, Chan Kate L S, Fung Jasmine L F, Yu Mullin H C, Mak Christopher C Y, Yeung Kit-San, Rodenburg Richard J T, Smeitink Jan A M, Chan Rachel, Tsoi Thomas, Hui Joannie, Wong Shelia S N, Tai Shuk-Mui, Chan Victor C M, Ma Che-Kwan, Fung Sharon T H, Wu Shun-Ping, Chak W K, Chung Brian H Y, Fung Cheuk-Wi |
| Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia. Biomedicines 2020 5 8 (5): . Maksemous Neven, Sutherland Heidi G, Smith Robert A, Haupt Larisa M, Griffiths Lyn |
| Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants. Cells 2020 10 9 (11): . Sutherland Heidi G, Maksemous Neven, Albury Cassie L, Ibrahim Omar, Smith Robert A, Lea Rod A, Haupt Larisa M, Jenkins Bronwyn, Tsang Benjamin, Griffiths Lyn |
| Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models. Human genetics 2021 9 141 (10): 1595-1613. Jiang Yuxiang, Urresti Jorge, Pagel Kymberleigh A, Pramod Akula Bala, Iakoucheva Lilia M, Radivojac Predr |
| 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 |
| Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management. Frontiers in cell and developmental biology 2021 10 9 749484. Wang Wenjia, Li Jin, Lan Lan, Xie Linyi, Xiong Fen, Guan Jing, Wang Hongyang, Wang Qiu |
| 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 |
| Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency. Neurology. Genetics 2023 4 9 (2): e200058. Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F R Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P Comi, Catarina Maria Quinzii, Alessio Di Fon |
| Parkinson's Disease Gene Screening in Familial Cases from Central and South America. Movement disorders : official journal of the Movement Disorder Society 2024 7 . Oswaldo Lorenzo-Betancor, Seysha Mehta, Janvi Ramchandra, Sekinat Mumuney, Artur F Schumacher-Schuh, Mario Cornejo-Olivas, Elison H Sarapura-Castro, Luis Torres, Miguel A Inca-Martinez, Pilar Mazzetti, Carlos Cosentino, Federico Micheli, Vitor Tumas, Elena Dieguez, Victor Raggio, Vanderci Borges, Henrique B Ferraz, Pedro Chana-Cuevas, Marlene Jimenez-Del-Rio, Carlos Velez-Pardo, Sonia Moreno, Francisco Lopera, Jorge L Orozco-Velez, Beatriz Muñoz-Ospina, Carlos R M Rieder, Alex Medina-Escobar, Dora Yearout, Cyrus P Zabetian, Ignacio F Mata, |
| Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia. PloS one 2024 7 19 (7): e0307454. Osama Y Muthaffar, Noura W Alazhary, Anas S Alyazidi, Mohammed A Alsubaie, Sarah Y Bahowarth, Nour B Odeh, Ahmed K Bama |
| ATP1A3-Associated Paroxysmal Dystonia. Tremor and other hyperkinetic movements (New York, N.Y.) 2024 12 14 61. Mark S Ledo |
- Page last reviewed:Feb 1, 2024
- Content source: