R Lodi, J M Cooper, J L Bradley, D Manners, P Styles, D J Taylor, A H Schapira. Proc Natl Acad Sci U S A 1999
Times Cited: 262
Times Cited: 262
Times Cited
Times Co-cited
Similarity
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
A Rötig, P de Lonlay, D Chretien, F Foury, M Koenig, D Sidi, A Munnich, P Rustin. Nat Genet 1997
A Rötig, P de Lonlay, D Chretien, F Foury, M Koenig, D Sidi, A Munnich, P Rustin. Nat Genet 1997
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Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
H Puccio, D Simon, M Cossée, P Criqui-Filipe, F Tiziano, J Melki, C Hindelang, R Matyas, P Rustin, M Koenig. Nat Genet 2001
H Puccio, D Simon, M Cossée, P Criqui-Filipe, F Tiziano, J Melki, C Hindelang, R Matyas, P Rustin, M Koenig. Nat Genet 2001
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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
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.
V Campuzano, L Montermini, Y Lutz, L Cova, C Hindelang, S Jiralerspong, Y Trottier, S J Kish, B Faucheux, P Trouillas,[...]. Hum Mol Genet 1997
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Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia.
J L Bradley, J C Blake, S Chamberlain, P K Thomas, J M Cooper, A H Schapira. Hum Mol Genet 2000
J L Bradley, J C Blake, S Chamberlain, P K Thomas, J M Cooper, A H Schapira. Hum Mol Genet 2000
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Oxidative stress in patients with Friedreich ataxia.
J B Schulz, T Dehmer, L Schöls, H Mende, C Hardt, M Vorgerd, K Bürk, W Matson, J Dichgans, M F Beal,[...]. Neurology 2000
J B Schulz, T Dehmer, L Schöls, H Mende, C Hardt, M Vorgerd, K Bürk, W Matson, J Dichgans, M F Beal,[...]. Neurology 2000
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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.
A E Harding. Brain 1981
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Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.
M Babcock, D de Silva, R Oaks, S Davis-Kaplan, S Jiralerspong, L Montermini, M Pandolfo, J Kaplan. Science 1997
M Babcock, D de Silva, R Oaks, S Davis-Kaplan, S Jiralerspong, L Montermini, M Pandolfo, J Kaplan. Science 1997
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Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant.
Michael Li-Hsuan Huang, Erika M Becker, Megan Whitnall, Yohan Suryo Rahmanto, Prem Ponka, Des R Richardson. Proc Natl Acad Sci U S A 2009
Michael Li-Hsuan Huang, Erika M Becker, Megan Whitnall, Yohan Suryo Rahmanto, Prem Ponka, Des R Richardson. Proc Natl Acad Sci U S A 2009
20
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.
A Wong, J Yang, P Cavadini, C Gellera, B Lonnerdal, F Taroni, G Cortopassi. Hum Mol Genet 1999
A Wong, J Yang, P Cavadini, C Gellera, B Lonnerdal, F Taroni, G Cortopassi. Hum Mol Genet 1999
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The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.
A Filla, G De Michele, F Cavalcanti, L Pianese, A Monticelli, G Campanella, S Cocozza. Am J Hum Genet 1996
A Filla, G De Michele, F Cavalcanti, L Pianese, A Monticelli, G Campanella, S Cocozza. Am J Hum Genet 1996
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Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.
David Herman, Kai Jenssen, Ryan Burnett, Elisabetta Soragni, Susan L Perlman, Joel M Gottesfeld. Nat Chem Biol 2006
David Herman, Kai Jenssen, Ryan Burnett, Elisabetta Soragni, Susan L Perlman, Joel M Gottesfeld. Nat Chem Biol 2006
19
Frataxin activates mitochondrial energy conversion and oxidative phosphorylation.
M Ristow, M F Pfister, A J Yee, M Schubert, L Michael, C Y Zhang, K Ueki, M D Michael, B B Lowell, C R Kahn. Proc Natl Acad Sci U S A 2000
M Ristow, M F Pfister, A J Yee, M Schubert, L Michael, C Y Zhang, K Ueki, M D Michael, B B Lowell, C R Kahn. Proc Natl Acad Sci U S A 2000
19
Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity.
Anne-Laure Bulteau, Heather A O'Neill, Mary Claire Kennedy, Masao Ikeda-Saito, Grazia Isaya, Luke I Szweda. Science 2004
Anne-Laure Bulteau, Heather A O'Neill, Mary Claire Kennedy, Masao Ikeda-Saito, Grazia Isaya, Luke I Szweda. Science 2004
18
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
M Cossée, H Puccio, A Gansmuller, H Koutnikova, A Dierich, M LeMeur, K Fischbeck, P Dollé, M Koenig. Hum Mol Genet 2000
M Cossée, H Puccio, A Gansmuller, H Koutnikova, A Dierich, M LeMeur, K Fischbeck, P Dollé, M Koenig. Hum Mol Genet 2000
18
Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis.
Taejin Yoon, J A Cowan. J Biol Chem 2004
Taejin Yoon, J A Cowan. J Biol Chem 2004
17
Increased levels of plasma malondialdehyde in Friedreich ataxia.
M Emond, G Lepage, M Vanasse, M Pandolfo. Neurology 2000
M Emond, G Lepage, M Vanasse, M Pandolfo. Neurology 2000
17
Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue.
R B Wilson, D M Roof. Nat Genet 1997
R B Wilson, D M Roof. Nat Genet 1997
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Mitochondrial impairment of human muscle in Friedreich ataxia in vivo.
M Vorgerd, L Schöls, C Hardt, M Ristow, J T Epplen, J Zange. Neuromuscul Disord 2000
M Vorgerd, L Schöls, C Hardt, M Ristow, J T Epplen, J Zange. Neuromuscul Disord 2000
22
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
Taejin Yoon, J A Cowan. J Am Chem Soc 2003
15
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation.
Or Kakhlon, Hila Manning, William Breuer, Naomi Melamed-Book, Chunye Lu, Gino Cortopassi, Arnold Munnich, Z Ioav Cabantchik. Blood 2008
Or Kakhlon, Hila Manning, William Breuer, Naomi Melamed-Book, Chunye Lu, Gino Cortopassi, Arnold Munnich, Z Ioav Cabantchik. Blood 2008
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Frataxin interacts functionally with mitochondrial electron transport chain proteins.
Pilar González-Cabo, Rafael P Vázquez-Manrique, M Adelaida García-Gimeno, Pascual Sanz, Francesc Palau. Hum Mol Genet 2005
Pilar González-Cabo, Rafael P Vázquez-Manrique, M Adelaida García-Gimeno, Pascual Sanz, Francesc Palau. Hum Mol Genet 2005
15
Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up.
Paul E Hart, Raffaele Lodi, Bheeshma Rajagopalan, Jane L Bradley, Jenifer G Crilley, Christopher Turner, Andrew M Blamire, David Manners, Peter Styles, Anthony H V Schapira,[...]. Arch Neurol 2005
Paul E Hart, Raffaele Lodi, Bheeshma Rajagopalan, Jane L Bradley, Jenifer G Crilley, Christopher Turner, Andrew M Blamire, David Manners, Peter Styles, Anthony H V Schapira,[...]. Arch Neurol 2005
15
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia.
Giovanni Coppola, Daniele Marmolino, Daning Lu, Qing Wang, Miriam Cnop, Myriam Rai, Fabio Acquaviva, Sergio Cocozza, Massimo Pandolfo, Daniel H Geschwind. Hum Mol Genet 2009
Giovanni Coppola, Daniele Marmolino, Daning Lu, Qing Wang, Miriam Cnop, Myriam Rai, Fabio Acquaviva, Sergio Cocozza, Massimo Pandolfo, Daniel H Geschwind. Hum Mol Genet 2009
17
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
Arnulf H Koeppen. J Neurol Sci 2011
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Friedreich ataxia: neuropathology revised.
Arnulf H Koeppen, Joseph E Mazurkiewicz. J Neuropathol Exp Neurol 2013
Arnulf H Koeppen, Joseph E Mazurkiewicz. J Neuropathol Exp Neurol 2013
15
Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria.
F Foury, O Cazzalini. FEBS Lett 1997
F Foury, O Cazzalini. FEBS Lett 1997
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Friedreich ataxia: the oxidative stress paradox.
Hervé Seznec, Delphine Simon, Cécile Bouton, Laurence Reutenauer, Ariane Hertzog, Pawel Golik, Vincent Procaccio, Manisha Patel, Jean-Claude Drapier, Michel Koenig,[...]. Hum Mol Genet 2005
Hervé Seznec, Delphine Simon, Cécile Bouton, Laurence Reutenauer, Ariane Hertzog, Pawel Golik, Vincent Procaccio, Manisha Patel, Jean-Claude Drapier, Michel Koenig,[...]. Hum Mol Genet 2005
14
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Dhaval Varshney, Lorraine Lawrence, Margaret B Lowrie, Sian Hughes, Zoe Webster, Julian Blake, J Mark Cooper, Rosalind King,[...]. Genomics 2006
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Dhaval Varshney, Lorraine Lawrence, Margaret B Lowrie, Sian Hughes, Zoe Webster, Julian Blake, J Mark Cooper, Rosalind King,[...]. Genomics 2006
14
A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia.
David R Lynch, Susan L Perlman, Thomas Meier. Arch Neurol 2010
David R Lynch, Susan L Perlman, Thomas Meier. Arch Neurol 2010
14
Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.
Stéphane Schmucker, Alain Martelli, Florent Colin, Adeline Page, Marie Wattenhofer-Donzé, Laurence Reutenauer, Hélène Puccio. PLoS One 2011
Stéphane Schmucker, Alain Martelli, Florent Colin, Adeline Page, Marie Wattenhofer-Donzé, Laurence Reutenauer, Hélène Puccio. PLoS One 2011
14
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, A Nivelon-Chevallier, K H Gustavson, A Kohlschütter,[...]. Ann Neurol 1999
M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, A Nivelon-Chevallier, K H Gustavson, A Kohlschütter,[...]. Ann Neurol 1999
13
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.
A O Hausse, Y Aggoun, D Bonnet, D Sidi, A Munnich, A Rötig, P Rustin. Heart 2002
A O Hausse, Y Aggoun, D Bonnet, D Sidi, A Munnich, A Rötig, P Rustin. Heart 2002
13
The MCK mouse heart model of Friedreich's ataxia: Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation.
Megan Whitnall, Yohan Suryo Rahmanto, Robert Sutak, Xiangcong Xu, Erika M Becker, Marc R Mikhael, Prem Ponka, Des R Richardson. Proc Natl Acad Sci U S A 2008
Megan Whitnall, Yohan Suryo Rahmanto, Robert Sutak, Xiangcong Xu, Erika M Becker, Marc R Mikhael, Prem Ponka, Des R Richardson. Proc Natl Acad Sci U S A 2008
12
Selective iron chelation in Friedreich ataxia: biologic and clinical implications.
Nathalie Boddaert, Kim Hanh Le Quan Sang, Agnès Rötig, Anne Leroy-Willig, Serge Gallet, Francis Brunelle, Daniel Sidi, Jean-Christophe Thalabard, Arnold Munnich, Z Ioav Cabantchik. Blood 2007
Nathalie Boddaert, Kim Hanh Le Quan Sang, Agnès Rötig, Anne Leroy-Willig, Serge Gallet, Francis Brunelle, Daniel Sidi, Jean-Christophe Thalabard, Arnold Munnich, Z Ioav Cabantchik. Blood 2007
12
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
12
Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial.
C Mariotti, A Solari, D Torta, L Marano, C Fiorentini, S Di Donato. Neurology 2003
C Mariotti, A Solari, D Torta, L Marano, C Fiorentini, S Di Donato. Neurology 2003
12
Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia.
Michael Bunse, Nana Bit-Avragim, Axel Riefflin, Andreas Perrot, Oliver Schmidt, Friedmar R Kreuz, Rainer Dietz, Wulf-Ingo Jung, Karl Josef Osterziel. Ann Neurol 2003
Michael Bunse, Nana Bit-Avragim, Axel Riefflin, Andreas Perrot, Oliver Schmidt, Friedmar R Kreuz, Rainer Dietz, Wulf-Ingo Jung, Karl Josef Osterziel. Ann Neurol 2003
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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
Chi-Lin Tsai, David P Barondeau. Biochemistry 2010
12
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Charles A Galea, Aamira Huq, Paul J Lockhart, Geneieve Tai, Louise A Corben, Eppie M Yiu, Lyle C Gurrin, David R Lynch, Sarah Gelbard, Alexandra Durr,[...]. Ann Neurol 2016
Charles A Galea, Aamira Huq, Paul J Lockhart, Geneieve Tai, Louise A Corben, Eppie M Yiu, Lyle C Gurrin, David R Lynch, Sarah Gelbard, Alexandra Durr,[...]. Ann Neurol 2016
16
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
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
33
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia.
K Chantrel-Groussard, V Geromel, H Puccio, M Koenig, A Munnich, A Rötig, P Rustin. Hum Mol Genet 2001
K Chantrel-Groussard, V Geromel, H Puccio, M Koenig, A Munnich, A Rötig, P Rustin. Hum Mol Genet 2001
11
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.
P Rustin, J C von Kleist-Retzow, K Chantrel-Groussard, D Sidi, A Munnich, A Rötig. Lancet 1999
P Rustin, J C von Kleist-Retzow, K Chantrel-Groussard, D Sidi, A Munnich, A Rötig. Lancet 1999
11
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.
L Montermini, A Richter, K Morgan, C M Justice, D Julien, B Castellotti, J Mercier, J Poirier, F Capozzoli, J P Bouchard,[...]. Ann Neurol 1997
L Montermini, A Richter, K Morgan, C M Justice, D Julien, B Castellotti, J Mercier, J Poirier, F Capozzoli, J P Bouchard,[...]. Ann Neurol 1997
11
Frataxin knockin mouse.
Carlos J Miranda, Manuela M Santos, Keiichi Ohshima, Julie Smith, Liangtao Li, Michaeline Bunting, Mireille Cossée, Michael Koenig, Jorge Sequeiros, Jerry Kaplan,[...]. FEBS Lett 2002
Carlos J Miranda, Manuela M Santos, Keiichi Ohshima, Julie Smith, Liangtao Li, Michaeline Bunting, Mireille Cossée, Michael Koenig, Jorge Sequeiros, Jerry Kaplan,[...]. FEBS Lett 2002
11
Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study.
R Lodi, B Rajagopalan, A M Blamire, J M Cooper, C H Davies, J L Bradley, P Styles, A H Schapira. Cardiovasc Res 2001
R Lodi, B Rajagopalan, A M Blamire, J M Cooper, C H Davies, J L Bradley, P Styles, A H Schapira. Cardiovasc Res 2001
15
Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia.
Daniel Velasco-Sánchez, Asuncion Aracil, Raquel Montero, Ana Mas, Lorenzo Jiménez, Mar O'Callaghan, Maria Tondo, Antoni Capdevila, Josep Blanch, Rafael Artuch,[...]. Cerebellum 2011
Daniel Velasco-Sánchez, Asuncion Aracil, Raquel Montero, Ana Mas, Lorenzo Jiménez, Mar O'Callaghan, Maria Tondo, Antoni Capdevila, Josep Blanch, Rafael Artuch,[...]. Cerebellum 2011
11
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.