HuGE Literature Finder
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| FXN gene methylation determines carrier status in Friedreich ataxia. Journal of medical genetics 2023 1 . Lam Christina, Gilliam Kaitlyn M, Rodden Layne N, Schadt Kimberly A, Lynch David R, Bidichandani Sanj |
| Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool. Advanced genetics (Hoboken, N.J.) 2023 1 3 (2): 2100078. Sharma Pooja, Sonakar Akhilesh Kumar, Tyagi Nishu, Suroliya Varun, Kumar Manish, Kutum Rintu, Asokchandran Vivekananda, Ambawat Sakshi, Shamim Uzma, Anand Avni, Ahmad Ishtaq, Shakya Sunil, Uppili Bharathram, Mathur Aradhana, Parveen Shaista, Jain Shweta, Singh Jyotsna, Seth Malika, Zahra Sana, Joshi Aditi, Goel Divya, Sahni Shweta, Kamai Asangla, Wadhwa Saruchi, Murali Aparna, Saifi Sheeba, Chowdhury Debashish, Pandey Sanjay, Anand Kuljeet Singh, Narasimhan Ranganathan Lakshmi, Laskar Sanghamitra, Kushwaha Suman, Kumar Mukesh, Shaji Cheruvallill Velayudhan, Srivastava Madakasira Vasantha Padma, Srivastava Achal K, Faruq Mohammed, |
| A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia. Frontiers in molecular biosciences 2022 9 9 933788. Rodden Layne N, Rummey Christian, Dong Yi Na, Lagedrost Sarah, Regner Sean, Brocht Alicia, Bushara Khalaf, Delatycki Martin B, Gomez Christopher M, Mathews Katherine, Murray Sarah, Perlman Susan, Ravina Bernard, Subramony S H, Wilmot George, Zesiewicz Theresa, Bolotta Alessandra, Domissy Alain, Jespersen Christine, Ji Baohu, Soragni Elisabetta, Gottesfeld Joel M, Lynch David |
| An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. American journal of human genetics 2022 12 110 (1): 105-119. Rafehi Haloom, Read Justin, Szmulewicz David J, Davies Kayli C, Snell Penny, Fearnley Liam G, Scott Liam, Thomsen Mirja, Gillies Greta, Pope Kate, Bennett Mark F, Munro Jacob E, Ngo Kathie J, Chen Luke, Wallis Mathew J, Butler Ernest G, Kumar Kishore R, Wu Kathy Hc, Tomlinson Susan E, Tisch Stephen, Malhotra Abhishek, Lee-Archer Matthew, Dolzhenko Egor, Eberle Michael A, Roberts Leslie J, Fogel Brent L, Brüggemann Norbert, Lohmann Katja, Delatycki Martin B, Bahlo Melanie, Lockhart Paul |
| Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England journal of medicine 2022 12 388 (2): 128-141. Pellerin David, Danzi Matt C, Wilke Carlo, Renaud Mathilde, Fazal Sarah, Dicaire Marie-Josée, Scriba Carolin K, Ashton Catherine, Yanick Christopher, Beijer Danique, Rebelo Adriana, Rocca Clarissa, Jaunmuktane Zane, Sonnen Joshua A, Larivière Roxanne, Genís David, Molina Porcel Laura, Choquet Karine, Sakalla Rawan, Provost Sylvie, Robertson Rebecca, Allard-Chamard Xavier, Tétreault Martine, Reiling Sarah J, Nagy Sara, Nishadham Vikas, Purushottam Meera, Vengalil Seena, Bardhan Mainak, Nalini Atchayaram, Chen Zhongbo, Mathieu Jean, Massie Rami, Chalk Colin H, Lafontaine Anne-Louise, Evoy François, Rioux Marie-France, Ragoussis Jiannis, Boycott Kym M, Dubé Marie-Pierre, Duquette Antoine, Houlden Henry, Ravenscroft Gianina, Laing Nigel G, Lamont Phillipa J, Saporta Mario A, Schüle Rebecca, Schöls Ludger, La Piana Roberta, Synofzik Matthis, Zuchner Stephan, Brais Berna |
| Auditory Phenotypic Variability in Friedreich's Ataxia Patients. Cerebellum (London, England) 2021 Feb . Koohi Nehzat, Thomas-Black Gilbert, Giunti Paola, Bamiou Doris-E |
| Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation. Frontiers in neuroscience 2021 12 15 752921. Rodden Layne N, Gilliam Kaitlyn M, Lam Christina, Lynch David R, Bidichandani Sanjay |
| Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner. International journal of molecular sciences 2021 7 22 (14): . Nethisinghe Suran, Kesavan Maheswaran, Ging Heather, Labrum Robyn, Polke James M, Islam Saiful, Garcia-Moreno Hector, Callaghan Martina F, Cavalcanti Francesca, Pook Mark A, Giunti Pao |
| Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia. Human molecular genetics 2021 1 29 (23): 3818-3829. Rodden Layne N, Chutake Yogesh K, Gilliam Kaitlyn, Lam Christina, Soragni Elisabetta, Hauser Lauren, Gilliam Matthew, Wiley Graham, Anderson Michael P, Gottesfeld Joel M, Lynch David R, Bidichandani Sanjay |
| Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells. The Journal of biological chemistry 2020 10 295 (52): 17973-17985. Vilema-Enríquez Gabriela, Quinlan Robert, Kilfeather Peter, Mazzone Roberta, Saqlain Saba, Del Molino Del Barrio Irene, Donato Annalidia, Corda Gabriele, Li Fengling, Vedadi Masoud, Németh Andrea H, Brennan Paul E, Wade-Martins Richa |
| Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience. Cerebellum (London, England) 2019 Jun . Peluzzo Thiago Mazzo, Bonadia Luciana Cardoso, Donatti Amanda, Molck Miriam Coelho, Jardim Laura Bannach, Marques Wilson, Lopes-Cendes Iscia Teresinha, França Marcondes |
| Genetic basis of hypertrophic cardiomyopathy in children. Clinical research in cardiology : official journal of the German Cardiac Society 2018 Aug . Rupp Stefan, Felimban Moataz, Schänzer Anne, Schranz Dietmar, Marschall Christoph, Zenker Martin, Logeswaran Thushiha, Neuhäuser Christoph, Thul Josef, Jux Christian, Hahn Andre |
| Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil. Cerebellum (London, England) 2018 Jun . Fussiger Helena, Saraiva-Pereira Maria Luiza, Leistner-Segal Sandra, Jardim Laura Banna |
| Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients. Mitochondrion 2015 Aug 25 1-5. Singh Inder, Faruq Mohammed, Padma Madakasira Vasantha, Goyal Vinay, Behari Madhuri, Grover Ashoo, Mukerji Mitali, Srivastava Achal |
| Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population. Journal of the neurological sciences 2015 Apr 351 (1-2): 124-6. Zeng Junsheng, Wang Junling, Zeng Sheng, He Miao, Zeng Xianfeng, Zhou Yao, Liu Zhen, Jiang Hong, Tang Beis |
| HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia. Movement disorders : official journal of the Movement Disorder Society 2014 Jun 29 (7): 940-3. Delatycki Martin B, Tai Geneieve, Corben Louise, Yiu Eppie M, Evans-Galea Marguerite V, Stephenson Sarah E M, Gurrin Lyle, Allen Katrina J, Lynch David, Lockhart Paul |
| Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan. The Chinese journal of physiology 2014 Apr 57 (2): 83-9. Shen Che-Piao, Lin Wei-Yong, Lin Ting-Fang, Wang Wen-Fu, Tsai Chon-Haw, Hsu Ban-Dar, Huang Chih-Yang, Liu Hsin-Ping, Tsai Fuu-J |
| Friedreich ataxia: executive control is related to disease onset and GAA repeat length. Cerebellum (London, England) 2014 Feb 13 (1): 9-16. Nachbauer Wolfgang, Bodner Thomas, Boesch Sylvia, Karner Elfriede, Eigentler Andreas, Neier Lisa, Benke Thomas, Delazer Margare |
| Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia. PloS one 2013 8 (1): 1. Bandiera S, Cartault F, Jannot AS, Hatem E, Girard M, Rifai L, Loiseau C, Munnich A, Lyonnet S, Henrion-Caude A |
| FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Annals of neurology 2012 4 71 (4): 487-97. Evans-Galea Marguerite V, Carrodus Nissa, Rowley Simone M, Corben Louise A, Tai Geneieve, Saffery Richard, Galati John C, Wong Nicholas C, Craig Jeffrey M, Lynch David R, Regner Sean R, Brocht Alicia F D, Perlman Susan L, Bushara Khalaf O, Gomez Christopher M, Wilmot George R, Li Lingli, Varley Elizabeth, Delatycki Martin B, Sarsero Joseph |
| A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. Journal of molecular and cellular cardiology 2011 Nov 51 (5): 848-54. Kelly Matthew, Bagnall Richard D, Peverill Roger E, Donelan Lesley, Corben Louise, Delatycki Martin B, Semsarian Christoph |
| Variations of frataxin protein levels in normal individuals. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2011 Apr 32 (2): 327-30. Boehm Therese, Scheiber-Mojdehkar Barbara, Kluge Britta, Goldenberg Hans, Laccone Franco, Sturm Brigit |
| High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2009 Jul 28 (1): 24-6. Zamba-Papanicolaou E, Koutsou P, Daiou C, Gaglia E, Georghiou A, Christodoulou |
| Predictors of progression in patients with Friedreich ataxia. Movement disorders : official journal of the Movement Disorder Society 2008 Oct 23 (14): 2026-32. La Pean Alison, Jeffries Neal, Grow Chelsea, Ravina Bernard, Di Prospero Nicholas |
| Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes. European journal of human genetics : EJHG 2005 Jul 13 (7): 849-55. Holmkvist Johan, Almgren Peter, Parikh Hemang, Zucchelli Marco, Kere Juha, Groop Leif, Lindgren Cecilia |
| Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India. Annals of human genetics 2004 May 68 (Pt 3): 189-95. Chattopadhyay B, Gupta S, Gangopadhyay P K, Das S K, Roy T, Mukherjee S C, Sinha K K, Singhal B S, Bhattacharyya N |
| Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland. Human genetics 2002 1 110 (1): 36-40. Juvonen Vesa, Kulmala Satu-Maria, Ignatius Jaakko, Penttinen Maila, Savontaus Marja-Lii |
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- Page last updated:Mar 22, 2023
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