Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
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Times Cited: 1962
Times Cited: 1962
Times Cited
Times Co-cited
Similarity
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, J L Mandel, A Brice, M Koenig. N Engl J Med 1996
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Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
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Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
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Friedreich ataxia: neuropathology revised.
Arnulf H Koeppen, Joseph E Mazurkiewicz. J Neuropathol Exp Neurol 2013
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Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.
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Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.
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Mortality in Friedreich ataxia.
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Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.
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Clinical features of Friedreich's ataxia: classical and atypical phenotypes.
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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
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Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Kathrin Reetz, Imis Dogan, Ana S Costa, Manuel Dafotakis, Kathrin Fedosov, Paola Giunti, Michael H Parkinson, Mary G Sweeney, Caterina Mariotti, Marta Panzeri,[...]. Lancet Neurol 2015
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Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
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Scale for the assessment and rating of ataxia: development of a new clinical scale.
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Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.
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Oxidative stress in patients with Friedreich ataxia.
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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
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Progression of Friedreich ataxia: quantitative characterization over 5 years.
Maya Patel, Charles J Isaacs, Lauren Seyer, Karlla Brigatti, Sarah Gelbard, Cassandra Strawser, Debbie Foerster, Julianna Shinnick, Kimberly Schadt, Eppie M Yiu,[...]. Ann Clin Transl Neurol 2016
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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
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The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Ozama Ismail, Dhaval Varshney, Stefania Lymperi, Chiranjeevi Sandi, Daniah Trabzuni, Mark Pook. Hum Mol Genet 2008
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Cerebral abnormalities in Friedreich ataxia: A review.
Louisa P Selvadurai, Ian H Harding, Louise A Corben, Nellie Georgiou-Karistianis. Neurosci Biobehav Rev 2018
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Friedreich's ataxia: clinical features, pathogenesis and management.
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Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.
Hong Lin, Jordi Magrane, Amy Rattelle, Anna Stepanova, Alexander Galkin, Elisia M Clark, Yi Na Dong, Sarah M Halawani, David R Lynch. Dis Model Mech 2017
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Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia.
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Ferroptosis as a Novel Therapeutic Target for Friedreich's Ataxia.
M Grazia Cotticelli, Shujuan Xia, Daniel Lin, Taehee Lee, Leila Terrab, Peter Wipf, Donna M Huryn, Robert B Wilson. J Pharmacol Exp Ther 2019
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Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism.
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Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
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A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz,[...]. Am J Hum Genet 2017
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Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
Chi-Lin Tsai, David P Barondeau. Biochemistry 2010
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R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.
Matthias Groh, Michele M P Lufino, Richard Wade-Martins, Natalia Gromak. PLoS Genet 2014
Matthias Groh, Michele M P Lufino, Richard Wade-Martins, Natalia Gromak. PLoS Genet 2014
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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
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Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.
Morgane Perdomini, Brahim Belbellaa, Laurent Monassier, Laurence Reutenauer, Nadia Messaddeq, Nathalie Cartier, Ronald G Crystal, Patrick Aubourg, Hélène Puccio. Nat Med 2014
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Prevalence gradients of Friedreich's ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge.
Pierre Vankan. J Neurochem 2013
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DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing.
Alexander Saveliev, Christopher Everett, Tammy Sharpe, Zoë Webster, Richard Festenstein. Nature 2003
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The role of oxidative stress in Friedreich's ataxia.
Federica Lupoli, Tommaso Vannocci, Giovanni Longo, Neri Niccolai, Annalisa Pastore. FEBS Lett 2018
Federica Lupoli, Tommaso Vannocci, Giovanni Longo, Neri Niccolai, Annalisa Pastore. FEBS Lett 2018
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Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins.
Taejin Yoon, J A Cowan. J Am Chem Soc 2003
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Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia.
Rachael A Vaubel, Grazia Isaya. Mol Cell Neurosci 2013
Rachael A Vaubel, Grazia Isaya. Mol Cell Neurosci 2013
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Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia.
Vincent Paupe, Emmanuel P Dassa, Sergio Goncalves, Françoise Auchère, Maria Lönn, Arne Holmgren, Pierre Rustin. PLoS One 2009
Vincent Paupe, Emmanuel P Dassa, Sergio Goncalves, Françoise Auchère, Maria Lönn, Arne Holmgren, Pierre Rustin. PLoS One 2009
8
Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model.
Yuxi Shan, Robert A Schoenfeld, Genki Hayashi, Eleonora Napoli, Tasuku Akiyama, Mirela Iodi Carstens, Earl E Carstens, Mark A Pook, Gino A Cortopassi. Antioxid Redox Signal 2013
Yuxi Shan, Robert A Schoenfeld, Genki Hayashi, Eleonora Napoli, Tasuku Akiyama, Mirela Iodi Carstens, Earl E Carstens, Mark A Pook, Gino A Cortopassi. Antioxid Redox Signal 2013
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A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.
Francoise Pousset, Lise Legrand, Marie-Lorraine Monin, Claire Ewenczyk, Perrine Charles, Michel Komajda, Alexis Brice, Massimo Pandolfo, Richard Isnard, Sophie Tezenas du Montcel,[...]. JAMA Neurol 2015
Francoise Pousset, Lise Legrand, Marie-Lorraine Monin, Claire Ewenczyk, Perrine Charles, Michel Komajda, Alexis Brice, Massimo Pandolfo, Richard Isnard, Sophie Tezenas du Montcel,[...]. JAMA Neurol 2015
25
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.