HuGE Literature Finder
Records 1-13
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia.
Movement disorders : official journal of the Movement Disorder Society 2010 May 25 (7): 846-52. Rajagopalan Bheeshma, Francis Jane M, Cooke Fraser, Korlipara L V Prasad, Blamire Andrew M, Schapira Anthony H V, Madan Jason, Neubauer Stefan, Cooper J Ma |
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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 |
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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 |
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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 |
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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 |
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Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.
American journal of medical genetics 2000 Dec 96 (6): 884-7. Culjkovi? B, Stojkovi? O, Savi? D, Zamurovi? N, Nesi? M, Major T, Keckarevi D , Romac S, Zamurovi B , Vukosavi? |
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- Page last updated:Apr 06, 2020
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