Sahar Al-Mahdawi, Ricardo Mouro Pinto, Dhaval Varshney, Lorraine Lawrence, Margaret B Lowrie, Sian Hughes, Zoe Webster, Julian Blake, J Mark Cooper, Rosalind King, Mark A Pook. Genomics 2006
Times Cited: 158
Times Cited: 158
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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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
48
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
39
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
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
39
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
34
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
31
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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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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Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia.
Delphine Simon, Hervé Seznec, Anne Gansmuller, Nadège Carelle, Philipp Weber, Daniel Metzger, Pierre Rustin, Michel Koenig, Hélène Puccio. J Neurosci 2004
Delphine Simon, Hervé Seznec, Anne Gansmuller, Nadège Carelle, Philipp Weber, Daniel Metzger, Pierre Rustin, Michel Koenig, Hélène Puccio. J Neurosci 2004
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GAA repeat instability in Friedreich ataxia YAC transgenic mice.
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Piers Ruddle, Christopher Carroll, Zoe Webster, Mark Pook. Genomics 2004
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Piers Ruddle, Christopher Carroll, Zoe Webster, Mark Pook. Genomics 2004
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The dorsal root ganglion in Friedreich's ataxia.
Arnulf H Koeppen, Jennifer A Morral, Ashley N Davis, Jiang Qian, Simone V Petrocine, Mitchell D Knutson, Walter M Gibson, Matthew J Cusack, Danhong Li. Acta Neuropathol 2009
Arnulf H Koeppen, Jennifer A Morral, Ashley N Davis, Jiang Qian, Simone V Petrocine, Mitchell D Knutson, Walter M Gibson, Matthew J Cusack, Danhong Li. Acta Neuropathol 2009
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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
Arnulf H Koeppen. J Neurol Sci 2011
27
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
27
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
27
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
27
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
A E Harding. Brain 1981
25
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
25
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
23
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
23
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia.
José V Llorens, Juan A Navarro, Maria J Martínez-Sebastián, Mary K Baylies, S Schneuwly, José A Botella, Maria D Moltó. FASEB J 2007
José V Llorens, Juan A Navarro, Maria J Martínez-Sebastián, Mary K Baylies, S Schneuwly, José A Botella, Maria D Moltó. FASEB J 2007
24
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
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Ozama Ismail, Dhaval Varshney, Stefania Lymperi, Chiranjeevi Sandi, Daniah Trabzuni, Mark Pook. Hum Mol Genet 2008
22
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
21
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
Morgane Perdomini, Brahim Belbellaa, Laurent Monassier, Laurence Reutenauer, Nadia Messaddeq, Nathalie Cartier, Ronald G Crystal, Patrick Aubourg, Hélène Puccio. Nat Med 2014
20
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
18
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
18
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
18
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
18
The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins.
Arnulf H Koeppen, Susan C Michael, Mitchell D Knutson, David J Haile, Jiang Qian, Sonia Levi, Paolo Santambrogio, Michael D Garrick, Jacques B Lamarche. Acta Neuropathol 2007
Arnulf H Koeppen, Susan C Michael, Mitchell D Knutson, David J Haile, Jiang Qian, Sonia Levi, Paolo Santambrogio, Michael D Garrick, Jacques B Lamarche. Acta Neuropathol 2007
18
An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1.
Jana Gerber, Ulrich Mühlenhoff, Roland Lill. EMBO Rep 2003
Jana Gerber, Ulrich Mühlenhoff, Roland Lill. EMBO Rep 2003
17
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Renata Santos, Sophie Lefevre, Dominika Sliwa, Alexandra Seguin, Jean-Michel Camadro, Emmanuel Lesuisse. Antioxid Redox Signal 2010
Renata Santos, Sophie Lefevre, Dominika Sliwa, Alexandra Seguin, Jean-Michel Camadro, Emmanuel Lesuisse. Antioxid Redox Signal 2010
17
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
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant.
Rafael P Vázquez-Manrique, Pilar González-Cabo, Sheila Ros, Homera Aziz, Howard A Baylis, Francesc Palau. FASEB J 2006
Rafael P Vázquez-Manrique, Pilar González-Cabo, Sheila Ros, Homera Aziz, Howard A Baylis, Francesc Palau. FASEB J 2006
23
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
17
The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases.
J B Lamarche, M Côté, B Lemieux. Can J Neurol Sci 1980
J B Lamarche, M Côté, B Lemieux. Can J Neurol Sci 1980
17
Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass.
Michael Ristow, Hindrik Mulder, Doreen Pomplun, Tim J Schulz, Katrin Müller-Schmehl, Anja Krause, Malin Fex, Helene Puccio, Jörg Müller, Frank Isken,[...]. J Clin Invest 2003
Michael Ristow, Hindrik Mulder, Doreen Pomplun, Tim J Schulz, Katrin Müller-Schmehl, Anja Krause, Malin Fex, Helene Puccio, Jörg Müller, Frank Isken,[...]. J Clin Invest 2003
17
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
17
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.
S I Bidichandani, T Ashizawa, P I Patel. Am J Hum Genet 1998
S I Bidichandani, T Ashizawa, P I Patel. Am J Hum Genet 1998
17
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.
H Koutnikova, V Campuzano, F Foury, P Dollé, O Cazzalini, M Koenig. Nat Genet 1997
H Koutnikova, V Campuzano, F Foury, P Dollé, O Cazzalini, M Koenig. Nat Genet 1997
17
Altered lipid metabolism in a Drosophila model of Friedreich's ataxia.
Juan A Navarro, Elisabeth Ohmann, Diego Sanchez, José A Botella, Gerhard Liebisch, María D Moltó, María D Ganfornina, Gerd Schmitz, Stephan Schneuwly. Hum Mol Genet 2010
Juan A Navarro, Elisabeth Ohmann, Diego Sanchez, José A Botella, Gerhard Liebisch, María D Moltó, María D Ganfornina, Gerd Schmitz, Stephan Schneuwly. Hum Mol Genet 2010
25
Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease.
Anna Pastore, Giulia Tozzi, Laura Maria Gaeta, Enrico Bertini, Valentina Serafini, Silvia Di Cesare, Valentina Bonetto, Filippo Casoni, Rosalba Carrozzo, Giorgio Federici,[...]. J Biol Chem 2003
Anna Pastore, Giulia Tozzi, Laura Maria Gaeta, Enrico Bertini, Valentina Serafini, Silvia Di Cesare, Valentina Bonetto, Filippo Casoni, Rosalba Carrozzo, Giorgio Federici,[...]. J Biol Chem 2003
16
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.
Aurore Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, Philippe Tropel, Jodie P Simard, Nadège Vaucamps, David Gall, Laurie Lambot, Cécile André, Laurence Reutenauer,[...]. Dis Model Mech 2013
Aurore Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, Philippe Tropel, Jodie P Simard, Nadège Vaucamps, David Gall, Laurie Lambot, Cécile André, Laurence Reutenauer,[...]. Dis Model Mech 2013
16
Frataxin deficiency induces Schwann cell inflammation and death.
Chunye Lu, Robert Schoenfeld, Yuxi Shan, Hsing-Jo Tsai, Bruce Hammock, Gino Cortopassi. Biochim Biophys Acta 2009
Chunye Lu, Robert Schoenfeld, Yuxi Shan, Hsing-Jo Tsai, Bruce Hammock, Gino Cortopassi. Biochim Biophys Acta 2009
23
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.
Astrid C Haugen, Nicholas A Di Prospero, Joel S Parker, Rick D Fannin, Jeff Chou, Joel N Meyer, Christopher Halweg, Jennifer B Collins, Alexandra Durr, Kenneth Fischbeck,[...]. PLoS Genet 2010
Astrid C Haugen, Nicholas A Di Prospero, Joel S Parker, Rick D Fannin, Jeff Chou, Joel N Meyer, Christopher Halweg, Jennifer B Collins, Alexandra Durr, Kenneth Fischbeck,[...]. PLoS Genet 2010
18
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
15
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia.
Peter R Anderson, Kim Kirby, William C Orr, Arthur J Hilliker, John P Phillips. Proc Natl Acad Sci U S A 2008
Peter R Anderson, Kim Kirby, William C Orr, Arthur J Hilliker, John P Phillips. Proc Natl Acad Sci U S A 2008
17
DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing.
Alexander Saveliev, Christopher Everett, Tammy Sharpe, Zoë Webster, Richard Festenstein. Nature 2003
Alexander Saveliev, Christopher Everett, Tammy Sharpe, Zoë Webster, Richard Festenstein. Nature 2003
15
Mortality in Friedreich ataxia.
Amy Y Tsou, Erin K Paulsen, Sarah J Lagedrost, Susan L Perlman, Katherine D Mathews, George R Wilmot, Bernard Ravina, Arnulf H Koeppen, David R Lynch. J Neurol Sci 2011
Amy Y Tsou, Erin K Paulsen, Sarah J Lagedrost, Susan L Perlman, Katherine D Mathews, George R Wilmot, Bernard Ravina, Arnulf H Koeppen, David R Lynch. J Neurol Sci 2011
15
RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila.
Peter R Anderson, Kim Kirby, Arthur J Hilliker, John P Phillips. Hum Mol Genet 2005
Peter R Anderson, Kim Kirby, Arthur J Hilliker, John P Phillips. Hum Mol Genet 2005
15
Glutathione in blood of patients with Friedreich's ataxia.
F Piemonte, A Pastore, G Tozzi, D Tagliacozzi, F M Santorelli, R Carrozzo, C Casali, M Damiano, G Federici, E Bertini. Eur J Clin Invest 2001
F Piemonte, A Pastore, G Tozzi, D Tagliacozzi, F M Santorelli, R Carrozzo, C Casali, M Damiano, G Federici, E Bertini. Eur J Clin Invest 2001
15
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.