Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Ataxia and FXN[original query] |
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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 |
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 GAA repeat expansions in amyotrophic lateral sclerosis. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2014 Aug 21 (8): 1319-22. Rizik Naji, Freischmidt Axel, Ludolph Albert C, Weishaupt Jochen |
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 |
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 |
Molecular epidemiology of hereditary ataxia in Finland. BMC neurology 2021 10 21 (1): 382. Lipponen Joonas, Helisalmi Seppo, Raivo Joose, Siitonen Ari, Doi Hiroshi, Rusanen Harri, Lehtilahti Maria, Ryytty Mervi, Laakso Markku, Tanaka Fumiaki, Majamaa Kari, Kytövuori Lau |
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 |
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