Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 54 Records) |
Query Trace: ATP13A2[original query] |
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Lack of association between the ATP13A2 A746T variant and Parkinson's disease susceptibility in Han Chinese: a meta-analysis. The International journal of neuroscience 2015 Jun 1-7. Pan Li-Shou, Wang Zheng, Ding Dan, Zhu Xue-Peng, Leng Hui-Lin, Deng Xin-Bo, Xu Yan-Mi |
High-resolution arrays reveal burden of copy number variations on Parkinson disease genes associated with increased disease risk in random cohorts. Neurological research 2016 Jul 1-11. Murthy Megha N, Veerappa Avinash M, Seshachalam Keshava B, Ramachandra Nallur |
Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels. Molecular diagnosis & therapy 2016 Jun . Gorostidi Ana, Martí-Massó José Félix, Bergareche Alberto, Rodríguez-Oroz Mari Cruz, de Munain Adolfo López, Ruiz-Martínez Javi |
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. European journal of human genetics : EJHG 2016 May . van de Warrenburg Bart P, Schouten Meyke I, de Bot Susanne T, Vermeer Sascha, Meijer Rowdy, Pennings Maartje, Gilissen Christian, Willemsen Michèl Aap, Scheffer Hans, Kamsteeg Erik-J |
Exonic rearrangements in the known Parkinson's disease-causing genes are a rare cause of the disease in South African patients. Neuroscience letters 2016 Mar 619 168-171. van der Merwe Celia, Carr Jonathan, Glanzmann Brigitte, Bardien Sora |
Role of LRRK2 and SNCA in autosomal dominant Parkinson's disease in Turkey. Parkinsonism & related disorders 2017 Dec . Kessler Christoph, Atasu Burcu, Hanagasi Hasmet, Simón-Sánchez Javier, Hauser Ann-Kathrin, Pak Meltem, Bilgic Basar, Erginel-Unaltuna Nihan, Gurvit Hakan, Gasser Thomas, Lohmann Eb |
Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease. Scientific reports 2018 Sep 8 (1): 14028. Shen Ting, Pu Jiali, Lai Hsin-Yi, Xu Lingjia, Si Xiaoli, Yan Yaping, Jiang Yasi, Zhang Baoro |
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia. Translational neurodegeneration 2019 8 19. Wei Qiao, Dong Hai-Lin, Pan Li-Ying, Chen Cong-Xin, Yan Yang-Tian, Wang Rou-Min, Li Hong-Fu, Liu Zhi-Jun, Tao Qing-Qing, Wu Zhi-Yi |
Analysis of Exon Dosage Using Multiplex Ligation-Dependent Probe Amplification in Chinese Patients with Early-Onset Parkinson's Disease. European neurology 2019 10 81 (5-6): 246-253. Lin Yu, Zeng Yi-Fang, Cai Nai-Qing, Lin Xiao-Zhen, Wang Ning, He J |
A genetic analysis of a Spanish population with early onset Parkinson's disease. PloS one 2020 15 (9): e0238098. Cristina Tejera-Parrado, Pablo Mir, Teresa Periñán María, Lydia Vela-Desojo, Irene Abreu-Rodríguez, Araceli Alonso-Cánovas, Inmaculada Bernal-Bernal, Marta Bonilla-Toribio, Dolores Buiza-Rueda, José Catalán-Alonso María, Rocío García-Ramos, José García-Ruiz Pedro, Ismael Huertas-Fernández, Silvia Jesús, Labrador Miguel A-Espinosa, Lydia López-Manzanares, Carlos Martínez-Castrillo Juan, Posada Ignacio J, Ana Rojo-Sebastián, Cristina Ruiz-Huete, Javier Del Val, Gómez-Garre Pil |
Genomic analysis of biomarkers related to the prognosis of acute myeloid leukemia. Oncology letters 2020 Aug 20 (2): 1824-1834. Li Guilan, Gao Yang, Li Kun, Lin Anqi, Jiang Zuj |
The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population. Brain : a journal of neurology 2020 Jul . Zhao Yuwen, Qin Lixia, Pan Hongxu, Liu Zhenhua, Jiang Li, He Yan, Zeng Qian, Zhou Xun, Zhou Xiaoxia, Zhou Yangjie, Fang Zhenghuan, Wang Zheng, Xiang Yaqin, Yang Honglan, Wang Yige, Zhang Kailin, Zhang Rui, He Runcheng, Zhou Xiaoting, Zhou Zhou, Yang Nannan, Liang Dongxiao, Chen Juan, Zhang Xuxiang, Zhou Yao, Liu Hongli, Deng Penghui, Xu Kun, Xu Ke, Zhou Chaojun, Zhong Junfei, Xu Qian, Sun Qiying, Li Bin, Zhao Guihu, Wang Tao, Chen Ling, Shang Huifang, Liu Weiguo, Chan Piu, Xue Zheng, Wang Qing, Guo Li, Wang Xuejing, Xu Changshui, Zhang Zhentao, Chen Tao, Lei Lifang, Zhang Hainan, Wang Chunyu, Tan Jieqiong, Yan Xinxiang, Shen Lu, Jiang Hong, Zhang Zhuohua, Hu Zhengmao, Xia Kun, Yue Zhenyu, Li Jinchen, Guo Jifeng, Tang Beis |
Novel and reported variants in Parkinson's disease genes confer high disease burden among Indians. Parkinsonism & related disorders 2020 7 78 46-52. Kumar Sumeet, Yadav Navneesh, Pandey Sanjay, Muthane Uday B, Govindappa Shyla T, Abbas Masoom M, Behari Madhuri, Thelma B |
Mutation Analysis of the Genes Associated with Parkinson's Disease in a Finnish Cohort of Early-Onset Dementia. Journal of Alzheimer's disease : JAD 2020 6 76 (3): 955-965. Luukkainen Laura, Huttula Samuli, Väyrynen Henri, Helisalmi Seppo, Kytövuori Laura, Haapasalo Annakaisa, Hiltunen Mikko, Remes Anne M, Krüger Johan |
Novel ATP13A2 and PINK1 variants identified in Chinese patients with Parkinson's disease by whole-exome sequencing. Neuroscience letters 2020 May 135075. Chen Hui, Jin Yu-Hua, Xue Yan-Yan, Chen Yu-Lan, Chen Yi-Jun, Tao Qing-Qing, Wu Zhi-Yi |
When does postural instability appear in monogenic parkinsonisms? An individual-patient meta-analysis. Journal of neurology 2020 5 268 (9): 3203-3211. Marsili Luca, Vizcarra Joaquin A, Sturchio Andrea, Dwivedi Alok K, Keeling Elizabeth G, Patel Dhiren, Mishra Murli, Farooqi Ashar, Merola Aristide, Fasano Alfonso, Mata Ignacio F, Kauffman Marcelo A, Espay Alberto |
Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease. Movement disorders : official journal of the Movement Disorder Society 2020 Apr . Hopfner Franziska, Mueller Stefanie H, Szymczak Silke, Junge Olaf, Tittmann Lukas, May Sandra, Lohmann Katja, Grallert Harald, Lieb Wolfgang, Strauch Konstantin, Müller-Nurasyid Martina, Berger Klaus, Schormair Barbara, Winkelmann Juliane, Mollenhauer Brit, Trenkwalder Claudia, Maetzler Walter, Berg Daniela, Kasten Meike, Klein Christine, Höglinger Günter U, Gasser Thomas, Deuschl Günther, Franke André, Krawczak Michael, Dempfle Astrid, Kuhlenbäumer Greg |
Panel-based targeted exome sequencing reveals novel candidate susceptibility loci for age-related cataracts in Chinese Cohort. Molecular genetics & genomic medicine 2020 4 8 (7): e1218. Li Jian-Kang, Li Li-Li, Li Wei, Wang Zi-Wei, Gao Feng-Juan, Hu Fang-Yuan, Zhang Sheng-Hai, Qu Shou-Fang, Huang Jie, Wang Lu-Sheng, Wu Ji-Hong, Chen Fa |
ATP13A2 Gene Variants in Patients with Parkinson's Disease in Xinjiang. BioMed research international 2020 2020 6954820. Wang Dan, Gao Hua, Li Yanxia, Jiang Sen, Yang Xinli |
Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder. Movement disorders : official journal of the Movement Disorder Society 2020 10 36 (1): 235-240. Mufti Kheireddin, Rudakou Uladzislau, Yu Eric, Krohn Lynne, Ruskey Jennifer A, Asayesh Farnaz, Laurent Sandra B, Spiegelman Dan, Arnulf Isabelle, Hu Michele T M, Montplaisir Jacques Y, Gagnon Jean-François, Desautels Alex, Dauvilliers Yves, Gigli Gian Luigi, Valente Mariarosaria, Janes Francesco, Högl Birgit, Stefani Ambra, Holzknecht Evi, Šonka Karel, Kemlink David, Oertel Wolfgang, Janzen Annette, Plazzi Giuseppe, Antelmi Elena, Figorilli Michela, Puligheddu Monica, Mollenhauer Brit, Trenkwalder Claudia, Sixel-Döring Friederike, Cochen De Cock Valérie, Monaca Christelle Charley, Heidbreder Anna, Ferini-Strambi Luigi, Dijkstra Femke, Viaene Mineke, Abril Beatriz, Boeve Bradley F, Postuma Ronald B, Rouleau Guy A, Gan-Or Z |
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease. Frontiers in neurology 2021 8 12 656342. Torrealba-Acosta Gabriel, Yu Eric, Lobo-Prada Tanya, Ruíz-Martínez Javier, Gorostidi-Pagola Ana, Gan-Or Ziv, Carazo-Céspedes Kenneth, Trempe Jean-François, Mata Ignacio F, Fornaguera-Trías Jai |
Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing. Frontiers in aging neuroscience 2021 11 13 745407. Sun Lin, Zhang Jianye, Su Ning, Zhang Shaowei, Yan Feng, Lin Xiang, Yu Jie, Li Wei, Li Xia, Xiao Shi |
Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study. Genes 2022 Jul 13 (8): . Vacchiano Veria, Bartoletti-Stella Anna, Rizzo Giovanni, Avoni Patrizia, Parchi Piero, Salvi Fabrizio, Liguori Rocco, Capellari Sabi |
Polymorphism of neurodegeneration-related genes associated with Parkinson's disease risk. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 6 43 (9): 5301-5312. Li Jiaxin, Yi Minhan, Li Binbin, Yin Shujuan, Zhang Ying, Huang Zini, Shu Li, Zhang Yu |
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases. EBioMedicine 2022 2 77 103869. Kolarova Hana, Tan Jing, Strom Tim M, Meitinger Thomas, Wagner Matias, Klopstock Thom |
Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene. Movement disorders clinical practice 2022 10 9 (7): 997-1002. Algahtani Hussein, Shirah Bader, Alshammari Salem, Alghamdi Fareeda, Abdulkareem Angham Abdulrhman, Naseer Muhammad Imr |
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. American journal of medical genetics. Part A 2022 Sep . Kumar Runjun D, Meng Linyan, Liu Pengfei, Miyake Christina Y, Worley Kim C, Bi Weimin, Lalani Seema |
Genetic study of early-onset Parkinson's disease in the Malaysian population. Parkinsonism & related disorders 2023 5 111 105399. Yi Wen Tay, Ai Huey Tan, Jia Lun Lim, Katja Lohmann, Khairul Azmi Ibrahim, Zariah Abdul Aziz, Yen Theng Chin, Ahmad Shahir Mawardi, Thien Thien Lim, Irene Looi, Yuen Kang Chia, Joshua Chin Ern Ooi, Wee Kooi Cheah, Alfand Marl F Dy Closas, Lei Cheng Lit, Jia Wei Hor, Tzi Shin Toh, Kalai Arasu Muthusamy, Peter Bauer, Volha Skrahin, Arndt Rolfs, Christine Klein, Azlina Ahmad-Annuar, Shen-Yang L |
Genetic screening of Filipinos suspected with familial Parkinson's disease: A pilot study. Parkinsonism & related disorders 2023 2 108 105319. Caritativo Erin Camille A, Yu Jeryl Ritzi T, Bautista Juan Miguel P, Nishioka Kenya, Jamora Roland Dominic G, Yalung Patrick M, Ng Arlene R, Hattori Nobuta |
Genetic landscape of Parkinson's disease and related diseases in Luxembourg. Frontiers in aging neuroscience 2024 1 15 1282174. Zied Landoulsi, Sinthuja Pachchek, Dheeraj Reddy Bobbili, Lukas Pavelka, Patrick May, Rejko Krüger, |
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- Page last updated:Apr 16, 2024
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