Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 64 Records) |
Query Trace: PLA2G6[original query] |
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The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials. Frontiers in genetics 2019 11 10 1061. Illés Anett, Csabán Dóra, Grosz Zoltán, Balicza Péter, Gézsi András, Molnár Viktor, Bencsik Renáta, Gál Anikó, Klivényi Péter, Molnar Maria Jud |
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 |
Lack of Association Between PLA2G6 Genetic Variation and Parkinson's Disease: A Systematic Review. Neuropsychiatric disease and treatment 2020 16 1755-1763. Liu Hongmei, Yao Yamin, Liu Hongbo, Peng Yanmin, Ren Juanjuan, Wu Xiaohui, Mao Ruizhi, Zhao Jie, Zhu Yuncheng, Niu Zhiang, Yang Tao, Sun Xiujia, Jiang Ping, Zhang Chen, Fang Yi |
PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan. Neurobiology of aging 2020 Jul . Daida Kensuke, Nishioka Kenya, Li Yuanzhe, Yoshino Hiroyo, Shimada Tomoyo, Dougu Nobuhiro, Nakatsuji Yuji, Ohara Shinji, Hashimoto Takao, Okiyama Ryoichi, Yokochi Fusako, Suzuki Chieko, Tomiyama Masahiko, Kimura Katsuo, Ueda Naohisa, Tanaka Fumiaki, Yamada Hitoshi, Fujioka Shinsuke, Tsuboi Yoshio, Uozumi Takenori, Takei Takanobu, Matsuzaki Shigeru, Shibasaki Morikazu, Kashihara Kenichi, Kurisaki Ryoichi, Yamashita Tetsuji, Fujita Nobuya, Hirata Yoshinori, Ii Yuichiro, Wada Chizu, Eura Nobuyuki, Sugie Kazuma, Higuchi Yujiro, Kojima Fumikazu, Imai Hisamasa, Noda Kazuyuki, Shimo Yasushi, Funayama Manabu, Hattori Nobuta |
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 |
Substantia nigra echogenicity is associated with serum ferritin, gender and iron-related genes in Parkinson's disease. Scientific reports 2020 May 10 (1): 8660. Li Kai, Ge Yi-Lun, Gu Chen-Chen, Zhang Jin-Ru, Jin Hong, Li Jiao, Cheng Xiao-Yu, Yang Ya-Ping, Wang Fen, Zhang Ying-Chun, Chen Jing, Mao Cheng-Jie, Liu Chun-Fe |
Initial survey of PLA2G6 missense variant causing neuroaxonal dystrophy in Papillon dogs in North America and Europe. Canine medicine and genetics 2020 12 7 (1): 17. Raj Karthik, Giger U |
Association of rare heterozygous PLA2G6 variants with the risk of Parkinson's disease. Neurobiology of aging 2020 Nov . Liu Hongli, Wang Yige, Pan Hongxu, Xu Kun, Jiang Li, Zhao Yuwen, Xu Qian, Sun Qiying, Tan Jieqiong, Yan Xinxiang, Li Jinchen, Tang Beisha, Guo Jife |
Influence of germline genetic variants on dermoscopic features of melanoma. Pigment cell & melanoma research 2020 Dec . Pozzobon Flavia Carolina, Tell-Marti Gemma, Calbet-Llopart Neus, Barreiro Alicia, Espinosa Natalia, Potrony Míriam, Alejo Beatriz, Podlipnik Sebastian, Combalia Marc, Puig-Butillé Joan Anton, Carrera Cristina, Malvehy Josep, Puig Susa |
A Han Chinese Family With Early-Onset Parkinson's Disease Carrying Novel Frameshift Mutation and Compound Heterozygous Mutation of PRKN Appearing Incompatible With MDS Clinical Diagnostic Criteria. Frontiers in neurology 2020 11 11 582323. Gao Chenyu, Huang Ting, Chen Rui, Yuan Zhenhua, Tian Youyong, Zhang Yingdo |
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 |
[Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 1 37 (1): 21-24. Tan Jianqiang, Yan Tizhen, Chang Rongni, Yuan Dejian, Pan Lizhen, Cai R |
A genetic analysis of Chinese patients with early-onset Parkinson' s disease. Neuroscience letters 2022 9 790 136880. Liu Qi, Jiang Bin, Zou Min, Wan Hui-Juan, Yu Zi-Wen, Wang Jing, Xu Chu-Chuan, Lin Si-Ning, Zheng Kun-Mu, Xiao Nai-An, Bi Min, Li Jian-Pe |
Serum metabolomic characterization of PLA2G6-associated dystonia-parkinsonism: A case-control biomarker study. Frontiers in neuroscience 2022 8 16 879548. Chen Chen, Lou Min-Min, Sun Yi-Min, Luo Fang, Liu Feng-Tao, Luo Su-Shan, Wang Wen-Yuan, Wang Ji |
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 |
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese. European journal of neurology 2022 Jul . Chen Yong-Ping, Yu Shi-Hui, Zhang Guo-Hui, Hou Yan-Bing, Gu Xiao-Jing, Ou Ru-Wei, Shen Ying, Song Wei, Chen Xue-Ping, Zhao Bi, Cao Bei, Zhang Ling-Yu, Sun Ming-Ming, Liu Fei-Fei, Wei Qian-Qian, Liu Kun-Cheng, Lin Jun-Yu, Yang Tian-Mi, Yang Jing, Wu Ying, Jiang Zheng, Liu Jiao, Cheng Yang-Fan, Xiao Yi, Su Wei-Ming, Feng Fei, Cai Ying-Ying, Li Shi-Rong, Hu Tao, Yuan Xiao-Qin, Zhou Qing-Qing, Shao Na, Ma Sha, Shang Hui-Fa |
Genome-Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India. Advanced biology 2022 Jul e2101326. Kukkle Prashanth Lingappa, Geetha Thenral S, Chaudhary Ruchi, Sathirapongsasuti Jarupon F, Goyal Vinay, Kandadai Rukmini Mridula, Kumar Hrishikesh, Borgohain Rupam, Mukherjee Adreesh, Oliver Merina, Sunil Meeta, Mootor Mohammed Faizal Eeman, Kapil Shruti, Mandloi Nitin, Wadia Pettarusp M, Yadav Ravi, Desai Soaham, Kumar Niraj, Biswas Atanu, Pal Pramod Kumar, Muthane Uday B, Das Shymal Kumar, Sakthivel Murugan Sakthivel M, Peterson Andrew S, Stawiski Eric W, Seshagiri Somasekar, Gupta Ravi, Ramprasad Vedam L, Prai Parkinson Research Alliance Of Ind |
Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China. Frontiers in aging neuroscience 2022 14 849462. Hua Ping, Zhao Yuwen, Zeng Qian, Li Lanting, Ren Jingru, Guo Jifeng, Tang Beisha, Liu Weig |
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 |
Genetic Study of Early Onset Parkinson's Disease in Cyprus. International journal of molecular sciences 2022 12 23 (23): . Abu Manneh Rana, Chairta Paraskevi P, Mitsi Ellie, Loizidou Maria A, Georgiou Andrea N, Christou Yiolanda P, Pantzaris Marios, Zamba-Papanicolaou Eleni, Hadjisavvas Andre |
PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran. Iranian journal of basic medical sciences 2022 1 24 (9): 1190-1195. Jafarzadeh Esfehani Reza, Eslahi Atieh, Beiraghi Toosi Mehran, Sadr-Nabavi Ariane, Kerachian Mohammad Amin, Asl Mohajeri Mahsa Sadat, Farjami Mahsa, Alizade Farzaneh, Mojarrad Maj |
High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic. Life (Basel, Switzerland) 2022 1 12 (1): . Kolarikova Kristyna, Vodicka Radek, Vrtel Radek, Stellmachova Julia, Prochazka Martin, Mensikova Katerina, Bartonikova Tereza, Furst Tomas, Kanovsky Petr, Geryk J |
Identification of Thrombosis-Related Genes in Patients with Advanced Gastric Cancer: Data from AGAMENON-SEOM Registry. Biomedicines 2022 1 10 (1): . Zaragoza-Huesca David, Garrido-Rodríguez Pedro, Jiménez-Fonseca Paula, Martínez de Castro Eva, Sánchez-Cánovas Manuel, Visa Laura, Custodio Ana, Fernández-Montes Ana, Peñas-Martínez Julia, Morales Del Burgo Patricia, Gallego Javier, Luengo-Gil Ginés, Vicente Vicente, Martínez-Martínez Irene, Carmona-Bayonas Alber |
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients. Orphanet journal of rare diseases 2023 7 18 (1): 177. Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavaso |
Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients. Orphanet journal of rare diseases 2023 7 18 (1): 190. Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavaso |
Association between PLA2 gene polymorphisms and treatment response to antipsychotic medications: A study of antipsychotic-naïve first-episode psychosis patients and nonadherent chronic psychosis patients. Prostaglandins, leukotrienes, and essential fatty acids 2023 6 194 102578. Sergej Nadalin, Lena Zatkovi?, Vjekoslav Peitl, Dalibor Karlovi?, Branka Vidrih, Antonia Pulji?, Sanja Devi? Pavli?, Alena Bureti?-Tomljanov |
A systematic analysis of genotype-phenotype associations with PLA2G6. Parkinsonism & related disorders 2023 6 112 105477. Jian Xue, Dong-Xue Ding, Guang-Yu Xu, Pu-Zhi Wang, Yi-Lun Ge, Jin-Ru Zhang, Xiao-Yu Cheng, Yi-Ming Wang, Hong Jin, Si-Yang Luo, Yu-Han Zheng, Jing Chen, Fen Wang, Dan Li, Cheng-Jie Mao, Kai Li, Chun-Feng L |
The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China. NPJ Parkinson's disease 2023 5 9 (1): 76. Yi-Min Sun, Xin-Yue Zhou, Xiao-Niu Liang, Jin-Ran Lin, Yi-Dan Xu, Chen Chen, Si-Di Wei, Qi-Si Chen, Feng-Tao Liu, Jue Zhao, Yi-Lin Tang, Bo Shen, Lin-Hua Gan, Boxun Lu, Zheng-Tong Ding, Yu An, Jian-Jun Wu, Jian Wa |
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 |
Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation. Parkinsonism & related disorders 2024 4 123 106103. Rubens Paulo Araújo Salomão, Flávio Moura Rezende Filho, Vanderci Borges, Manju A Kurian, Henrique Ballalai Ferraz, Guido J Breedveld, Vincenzo Bonifati, Orlando G Barsottini, José Luiz Pedro |
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- Page last updated:Apr 16, 2024
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