Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 32 Records) |
| Query Trace: Ataxia and GAA[original query] |
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Auditory Phenotypic Variability in Friedreich's Ataxia Patients. Cerebellum (London, England) 2021 Feb . Koohi Nehzat, Thomas-Black Gilbert, Giunti Paola, Bamiou Doris-E |
| 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 |
| Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia. Neurology. Genetics 2023 8 9 (5): e200094. Luiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, Pedro J Tomaselli, Shahryar Alavi, Marcus Vinícius Della Coleta, Mariana Spitz, Marie-Josée Dicaire, Pablo Iruzubieta, José Luiz Pedroso, Orlando Barsottini, Andrea Cortese, Matt C Danzi, Marcondes C França, Bernard Brais, Stephan Zuchner, Henry Houlden, Salmo Raskin, Wilson Marques, Helio A Tei |
| Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response. medRxiv : the preprint server for health sciences 2023 8 . David Pellerin, Felix Heindl, Carlo Wilke, Matt C Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M Boycott, Jens Claassen, Dan Rujescu, Annette M Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofz |
| Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. European journal of neurology 2023 8 . Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albajar, Elisabet Mondragón, Ana Vinagre, Roberto Fernández-Torrón, Fermín Moreno, Jon Equiza, David Campo-Caballero, Juan José Poza, Marta Ruibal, Alessandro Formica, Marie-Josée Dicaire, Matt C Danzi, Stephan Zuchner, Ioana Croitoru, Montserrat Ruiz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munain, Javier Ruiz-Martín |
| Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. Journal of neurology, neurosurgery, and psychiatry 2023 7 . David Pellerin, Carlo Wilke, Andreas Traschütz, Sara Nagy, Riccardo Currò, Marie-Josée Dicaire, Hector Garcia-Moreno, Mathieu Anheim, Thomas Wirth, Jennifer Faber, Dagmar Timmann, Christel Depienne, Dan Rujescu, José Gazulla, Mary M Reilly, Paola Giunti, Bernard Brais, Henry Houlden, Ludger Schöls, Michael Strupp, Andrea Cortese, Matthis Synofz |
| Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine 2023 12 99 104931. Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Du |
| 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, |
| Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis. European journal of neurology 2024 8 e16441. Xu-Ying Li, Hong Lai, Xian Li, Fanxi Xu, Yang Song, Zhanjun Wang, Qibin Li, Ruichai Lin, Zhiheng Xu, Chaodong Wa |
| Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin. Neurogenetics 2024 7 . Tiyasha De, Pooja Sharma, Bharathram Upilli, A Vivekanand, Shreya Bari, Akhilesh Kumar Sonakar, Achal Kumar Srivastava, Mohammed Far |
| Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia. Journal of human genetics 2024 6 . Ze-Hong Zheng, Chun-Yan Cao, Bi Cheng, Ru-Ying Yuan, Yi-Heng Zeng, Zhang-Bao Guo, Yu-Sen Qiu, Wen-Qi Lv, Hui Liang, Jin-Lan Li, Wei-Xiong Zhang, Min-Kun Fang, Yu-Hao Sun, Wei Lin, Jing-Mei Hong, Shi-Rui Gan, Ning Wang, Wan-Jin Chen, Gan-Qin Du, Ling Fa |
| Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese. Journal of neurology, neurosurgery, and psychiatry 2024 5 . Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, Shinichi Shirai, Masaaki Matsushima, Masaki Okubo, Taishi Wada, Misako Kunii, Ken Johkura, Ryosuke Miyamoto, Yusuke Osaki, Takabumi Miyama, Mai Satoh, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Kazuharu Misawa, Kohei Hamanaka, Haruka Hamanoue, Takeshi Mizuguchi, Hiroyuki Morino, Yuishin Izumi, Takayoshi Shimohata, Kunihiro Yoshida, Hiroaki Adachi, Fumiaki Tanaka, Ichiro Yabe, Naomichi Matsumo |
| Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN. Neurology. Genetics 2024 11 10 (6): e200210. Brandon J Gerhart, David Pellerin, Matt C Danzi, Stephan Zuchner, Bernard Brais, Gabriel Matos-Rodrigues, Andre Nussenzweig, Karen Usdin, Courtney C Park, Jill S Napierala, David R Lynch, Marek Napiera |
- Page last reviewed:Feb 1, 2024
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