Human Genome Epidemiology Literature Finder
Records 1 - 27 (of 27 Records) |
Query Trace: Dystonia and GCH1[original query] |
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Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease. European journal of neurology : the official journal of the European Federation of Neurological Societies 2006 Apr 13 (4): 385-90. Hertz J M, Ostergaard K, Juncker I, Pedersen S, Romstad A, Møller L B, Güttler F, Dupont |
Frequency of GCH1 deletions in Dopa-responsive dystonia. Journal of neurology, neurosurgery, and psychiatry 2008 Feb 79 (2): 183-6. Zirn B, Steinberger D, Troidl C, Brockmann K, von der Hagen M, Feiner C, Henke L, Müller |
[Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007 Jun 24 (3): 302-4. Li Jing, Tang Bei-sha, Guo Ji-feng, Zhang Yu-hu, Xie Zhi-guo, Yan Xin-xiang, Shen Lu, Jiang Hong, Zhang Xue-wei, Xia Kun, Pan Qi |
[Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007 Apr 24 (2): 210-2. Ye Jun, Liu Xiao-qing, Qiu Wen-juan, Han Lian-shu, Zhou Jian-de, Zhang Ya-fen, Gu Xue-f |
Reliable screening for a pain-protective haplotype in the GTP cyclohydrolase 1 gene (GCH1) through the use of 3 or fewer single nucleotide polymorphisms. Clinical chemistry 2007 Jun 53 (6): 1010-5. Lötsch Jörn, Belfer Inna, Kirchhof Anja, Mishra Bikash K, Max Mitchell B, Doehring Alexandra, Costigan Michael, Woolf Clifford J, Geisslinger Gerd, Tegeder Irmga |
GCH1 in early-onset Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society 2009 Oct 24 (14): 2070-5. Cobb Stephanie A, Wider Christian, Ross Owen A, Mata Ignacio F, Adler Charles H, Rajput Alex, Rajput Ali H, Wu Ruey-Meei, Hauser Robert, Josephs Keith A, Carr Jonathan, Gwinn Katrina, Heckman Michael G, Aasly Jan O, Lynch Timothy, Uitti Ryan J, Wszolek Zbigniew K, Kapatos Gregory, Farrer Matthew |
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain : a journal of neurology 2009 Jul 132 (Pt 7): 1753-63. Clot Fabienne, Grabli David, Cazeneuve Cécile, Roze Emmanuel, Castelnau Pierre, Chabrol Brigitte, Landrieu Pierre, Nguyen Karine, Ponsot Gérard, Abada Myriem, Doummar Diane, Damier Philippe, Gil Roger, Thobois Stéphane, Ward Alana J, Hutchinson Michael, Toutain Annick, Picard Fabienne, Camuzat Agnès, Fedirko Estelle, Sân Chankannira, Bouteiller Delphine, LeGuern Eric, Durr Alexandra, Vidailhet Marie, Brice Alexis, |
High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010 1 153B (4): 903-8. Wu-Chou Yah-Huei, Yeh Tu-Hsueh, Wang Chuan-Yu, Lin Juei-Jueng, Huang Chin-Chang, Chang Hsiu-Chen, Lai Szu-Chia, Chen Rou-Shayn, Weng Yi-Hsin, Huang Chia-Ling, Lu Chin-So |
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 |
Occurrence of GCH1 gene mutations in a group of Indian dystonia patients. Journal of neural transmission (Vienna, Austria : 1996) 2012 Nov 119 (11): 1343-50. Naiya Tufan, Misra Amar K, Biswas Arindam, Das Shyamal K, Ray Kunal, Ray Jhar |
Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients. European journal of human genetics : EJHG 2012 Dec . Yu L, Zhou H, Hu F, Xu Y |
SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain : a journal of neurology 2013 Jan 136 (Pt 1): Pt 1. Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR |
[A novel mutation in GCH1 gene causes dopa-responsive dystonia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2014 Aug 31 (4): 420-3. Wu Weiqing, Han Chunxi, Hao Ying, Xie Jiansheng, Xu Zhiyong, Geng Qi |
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain : a journal of neurology 2014 Sep 137 (Pt 9): 2480-92. Mencacci Niccolò E, Isaias Ioannis U, Reich Martin M, Ganos Christos, Plagnol Vincent, Polke James M, Bras Jose, Hersheson Joshua, Stamelou Maria, Pittman Alan M, Noyce Alastair J, Mok Kin Y, Opladen Thomas, Kunstmann Erdmute, Hodecker Sybille, Münchau Alexander, Volkmann Jens, Samnick Samuel, Sidle Katie, Nanji Tina, Sweeney Mary G, Houlden Henry, Batla Amit, Zecchinelli Anna L, Pezzoli Gianni, Marotta Giorgio, Lees Andrew, Alegria Paulo, Krack Paul, Cormier-Dequaire Florence, Lesage Suzanne, Brice Alexis, Heutink Peter, Gasser Thomas, Lubbe Steven J, Morris Huw R, Taba Pille, Koks Sulev, Majounie Elisa, Raphael Gibbs J, Singleton Andrew, Hardy John, Klebe Stephan, Bhatia Kailash P, Wood Nicholas W, |
Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene. Genetics and molecular research : GMR 2015 14 (3): 11185-90. Shi W T, Cai C Y, Li M S, Ling C, Li W |
Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts. Molecular neurobiology 2015 Jul . Hozyasz Kamil K, Mostowska Adrianna, Wójcicki Piotr, Lasota Agnieszka, Zadurska Ma?gorzata, Dunin-Wilczy?ska Izabela, Jagodzi?ski Pawe? |
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 |
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 |
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 |
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 |
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 |
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 |
Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India. Journal of molecular neuroscience : MN 2020 Jul . Giri Subhajit, Ghosh Arunibha, Roy Shubhrajit, Sankhla Charulata Savant, Das Shyamal Kumar, Ray Kunal, Ray Jhar |
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 |
A preliminary exome sequence in three patients with tardive dystonia. Psychiatric genetics 2019 Dec . Kanahara Nobuhisa, Nakata Yusuke, Iyo Masao |
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, |
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- Page last updated:Jun 11, 2024
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