Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 43 Records) |
| Query Trace: Disease and GCH1[original query] |
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| SIPA1L2, MIR4697, GCH1 and VPS13C loci and risk of Parkinson's diseases in Iranian population: A case-control study. Journal of the neurological sciences 2016 Oct 369 1-4. Safaralizadeh Tannaz, Jamshidi Javad, Esmaili Shandiz Ehsan, Movafagh Abolfazl, Fazeli Atena, Emamalizadeh Babak, Manafi Navid, Taghavi Shaghayegh, Tafakhori Abbas, Darvish Hosse |
| Low frequency of GCH1 and TH mutations in Parkinson's disease. Parkinsonism & related disorders 2016 May . Rengmark Aina, Pihlstrøm Lasse, Linder Jan, Forsgren Lars, Toft Mathi |
| Aging modifies the effect of GCH1 RS11158026 on DAT uptake and Parkinson's disease clinical severity. Neurobiology of aging 2016 Oct 50 39-46. Webb Joseph, Willette Auriel |
| GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia. Parkinsonism & related disorders 2017 Sep . Dobri?i? Valerija, Tomi? Aleksandra, Brankovi? Vesna, Kresojevi? Nikola, Jankovi? Milena, Westenberger Ana, Raši? Vedrana Mili?, Klein Christine, Novakovi? Ivana, Svetel Marina, Kosti? Vladimir |
| Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson's disease in a Han Chinese population. Neuroscience letters 2017 05 650 8-11. Yang Xinglong, Zheng Jinhua, An Ran, Tian Sijia, Zhao Quanzhen, Chen Yalan, Huang Hongyan, Ning Ping Ping, Song Yi, Xu Yanmi |
| c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia. Neurology. Genetics 2017 11 3 (6): e197. Shalash Ali S, Rösler Thomas W, Müller Stefanie H, Salama Mohamed, Deuschl Günther, Müller Ulrich, Opladen Thomas, Petersen Britt-Sabina, Franke Andre, Hopfner Franziska, Kuhlenbäumer Gregor, Höglinger Günter |
| Genetic variants of GCH1 associate with chronic and acute crisis pain in African Americans with sickle cell disease. Experimental hematology 2018 Jul . Sadhu Nilanjana, Jhun Ellie H, Yao Yingwei, He Ying, Molokie Robert E, Wilkie Diana J, Wang Zaijie J |
| Study of GCH1 and TH genes in Chinese patients with Parkinson's disease. Neurobiology of aging 2018 08 68 159.e3-159.e6. Yan Ya-Ping, Zhang Bo, Shen Ting, Si Xiao-Li, Guo Zhang-Yu, Tian Jun, Xu Cong-Ying, Zhang Bao-Ro |
| Association analyses of variants of SIPA1L2, MIR4697, GCH1, VPS13C, and DDRGK1 with Parkinson's disease in East Asians. Neurobiology of aging 2018 Mar . Zou Ming, Li Rui, Wang Jian-Yong, Wang Ke, Wang Ya-Nan, Li Yang, Ji Fei-Xue, Sun Sheng-Nan, Huang Shi-Shi, Fan Hui-Hui, Huang Chen-Ping, Zhang Xiong, Zhu Jian-Ho |
| Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity. Pain 2018 Jun 159 (6): 1012-1024. Nasser Arafat, Møller Anette Torvin, Hellmund Vibe, Thorborg Sidsel Salling, Jespersgaard Cathrine, Bjerrum Ole J, Dupont Erik, Nachman Gösta, Lykkesfeldt Jens, Jensen Troels Staehelin, Møller Lisbeth Bi |
| Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis. Proceedings of the National Academy of Sciences of the United States of America 2018 Feb 115 (8): 1697-1706. Zhou Xiaopu, Chen Yu, Mok Kin Y, Zhao Qianhua, Chen Keliang, Chen Yuewen, Hardy John, Li Yun, Fu Amy K Y, Guo Qihao, Ip Nancy Y, |
| Common and rare GCH1 variants are associated with Parkinson's disease. Neurobiology of aging 2018 Sep . Rudakou Uladzislau, Ouled Amar Bencheikh Bouchra, Ruskey Jennifer A, Krohn Lynne, Laurent Sandra B, Spiegelman Dan, Liong Christopher, Fahn Stanley, Waters Cheryl, Monchi Oury, Fon Edward A, Dauvilliers Yves, Alcalay Roy N, Dupré Nicolas, Gan-Or Z |
Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and ?-synuclein mechanisms.
Movement disorders : official journal of the Movement Disorder Society 2019 Jun 34 (6): 866-875. Blauwendraat Cornelis, Heilbron Karl, Vallerga Costanza L, Bandres-Ciga Sara, von Coelln Rainer, Pihlstrøm Lasse, Simón-Sánchez Javier, Schulte Claudia, Sharma Manu, Krohn Lynne, Siitonen Ari, Iwaki Hirotaka, Leonard Hampton, Noyce Alastair J, Tan Manuela, Gibbs J Raphael, Hernandez Dena G, Scholz Sonja W, Jankovic Joseph, Shulman Lisa M, Lesage Suzanne, Corvol Jean-Christophe, Brice Alexis, van Hilten Jacobus J, Marinus Johan, , Eerola-Rautio Johanna, Tienari Pentti, Majamaa Kari, Toft Mathias, Grosset Donald G, Gasser Thomas, Heutink Peter, Shulman Joshua M, Wood Nicolas, Hardy John, Morris Huw R, Hinds David A, Gratten Jacob, Visscher Peter M, Gan-Or Ziv, Nalls Mike A, Singleton Andrew B, |
| GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study. Translational neurodegeneration 2020 Aug 9 (1): 31. Pan Hong-Xu, Zhao Yu-Wen, Mei Jun-Pu, Fang Zheng-Huan, Wang Yige, Zhou Xun, Zhou Yang-Jie, Zhang Rui, Zhang Kai-Lin, Jiang Li, Zeng Qian, He Yan, Wang Zheng, Liu Zhen-Hua, Xu Qian, Sun Qi-Ying, Yang Yang, Hu Ya-Cen, Chen Ya-Se, Du Juan, Lei Li-Fang, Zhang Hai-Nan, Wang Chun-Yu, Yan Xin-Xiang, Shen Lu, Jiang Hong, Tan Jie-Qiong, Li Jin-Chen, Tang Bei-Sha, Guo Ji-Fe |
| Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia. Frontiers in pediatrics 2020 3 8 83. Chen Yan, Bao Xinhua, Wen Yongxin, Wang Jiaping, Zhang Qingping, Yan Jiay |
| Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations. Brain : a journal of neurology 2020 Dec . Rudakou Uladzislau, Yu Eric, Krohn Lynne, Ruskey Jennifer A, Asayesh Farnaz, Dauvilliers Yves, Spiegelman Dan, Greenbaum Lior, Fahn Stanley, Waters Cheryl H, Dupré Nicolas, Rouleau Guy A, Hassin-Baer Sharon, Fon Edward A, Alcalay Roy N, Gan-Or Z |
| 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 |
| Atremorine in Parkinson's disease: From dopaminergic neuroprotection to pharmacogenomics. Medicinal research reviews 2021 6 41 (5): 2841-2886. Cacabelos Ramón, Carrera Iván, Martínez Olaia, Alejo Ramón, Fernández-Novoa Lucía, Cacabelos Pablo, Corzo Lola, Rodríguez Susana, Alcaraz Margarita, Nebril Laura, Tellado Iván, Cacabelos Natalia, Pego Rocío, Naidoo Vinogran, Carril Juan |
| Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes. Parkinsonism & related disorders 2021 12 94 67-78. Fernández-Ramos Joaquín A, De la Torre-Aguilar María José, Quintáns Beatriz, Pérez-Navero Juan Luis, Beyer Katrin, López-Laso Eduardo, |
| Fibromyalgia: A Review of Related Polymorphisms and Clinical Relevance. Anais da Academia Brasileira de Ciencias 2021 11 93 (suppl 4): e20210618. Janssen Luísa P, Medeiros Liciane F, Souza Andressa DE, Silva Juliana |
| 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 |
| Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing. Biomedicines 2023 7 11 (7): . Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavalla |
| 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 |
| 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 |
| 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, |
| Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient. Parkinsonism & related disorders 2024 11 130 107171. Imen Kacem, Ikram Sghaier, Hanene Ben Rhouma, Antonia Ratti, Nicola Ticozzi, Vincenzo Silani, Neziha Gouider-Khouja, Riadh Gouid |
| Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease. NPJ Parkinson's disease 2024 10 10 (1): 188. Clodagh Towns, Zih-Hua Fang, Manuela M X Tan, Simona Jasaityte, Theresa M Schmaderer, Eleanor J Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M Lange, Anthony H V Schapira, Kailash P Bhatia, , , Andrew B Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W Wood, Paul R Jarman, Huw R Morris, Raquel Re |
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