M Cossée, M Schmitt, V Campuzano, L Reutenauer, C Moutou, J L Mandel, M Koenig. Proc Natl Acad Sci U S A 1997
Times Cited: 238
Times Cited: 238
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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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'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
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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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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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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
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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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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
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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
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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
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The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
L Montermini, E Andermann, M Labuda, A Richter, M Pandolfo, F Cavalcanti, L Pianese, L Iodice, G Farina, A Monticelli,[...]. Hum Mol Genet 1997
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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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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
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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
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
18
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.
Eriko Greene, Lata Mahishi, Ali Entezam, Daman Kumari, Karen Usdin. Nucleic Acids Res 2007
Eriko Greene, Lata Mahishi, Ali Entezam, Daman Kumari, Karen Usdin. Nucleic Acids Res 2007
18
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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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
17
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
17
Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.
N Sakamoto, P D Chastain, P Parniewski, K Ohshima, M Pandolfo, J D Griffith, R D Wells. Mol Cell 1999
N Sakamoto, P D Chastain, P Parniewski, K Ohshima, M Pandolfo, J D Griffith, R D Wells. Mol Cell 1999
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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
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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
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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
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Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo.
K Ohshima, L Montermini, R D Wells, M Pandolfo. J Biol Chem 1998
K Ohshima, L Montermini, R D Wells, M Pandolfo. J Biol Chem 1998
14
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.
I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, S Sacchetti, S Keller, V E Avvedimento, L Chiariotti,[...]. J Med Genet 2008
I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, S Sacchetti, S Keller, V E Avvedimento, L Chiariotti,[...]. J Med Genet 2008
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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
14
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
Myriam Rai, Elisabetta Soragni, Kai Jenssen, Ryan Burnett, David Herman, Giovanni Coppola, Daniel H Geschwind, Joel M Gottesfeld, Massimo Pandolfo. PLoS One 2008
Myriam Rai, Elisabetta Soragni, Kai Jenssen, Ryan Burnett, David Herman, Giovanni Coppola, Daniel H Geschwind, Joel M Gottesfeld, Massimo Pandolfo. PLoS One 2008
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The pathogenesis of Friedreich ataxia and the structure and function of frataxin.
Massimo Pandolfo, Annalisa Pastore. J Neurol 2009
Massimo Pandolfo, Annalisa Pastore. J Neurol 2009
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Clinical and genetic study of Friedreich ataxia in an Australian population.
M B Delatycki, D B Paris, R J Gardner, G A Nicholson, N Nassif, E Storey, J C MacMillan, V Collins, R Williamson, S M Forrest. Am J Med Genet 1999
M B Delatycki, D B Paris, R J Gardner, G A Nicholson, N Nassif, E Storey, J C MacMillan, V Collins, R Williamson, S M Forrest. Am J Med Genet 1999
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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
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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
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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
12
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
12
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
12
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
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Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia.
Eunah Kim, Marek Napierala, Sharon Y R Dent. Nucleic Acids Res 2011
Eunah Kim, Marek Napierala, Sharon Y R Dent. Nucleic Acids Res 2011
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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
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A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.
Eric C Deutsch, Avni B Santani, Susan L Perlman, Jennifer M Farmer, Catherine A Stolle, Michael F Marusich, David R Lynch. Mol Genet Metab 2010
Eric C Deutsch, Avni B Santani, Susan L Perlman, Jennifer M Farmer, Catherine A Stolle, Michael F Marusich, David R Lynch. Mol Genet Metab 2010
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FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
Marguerite V Evans-Galea, Nissa Carrodus, Simone M Rowley, Louise A Corben, Geneieve Tai, Richard Saffery, John C Galati, Nicholas C Wong, Jeffrey M Craig, David R Lynch,[...]. Ann Neurol 2012
Marguerite V Evans-Galea, Nissa Carrodus, Simone M Rowley, Louise A Corben, Geneieve Tai, Richard Saffery, John C Galati, Nicholas C Wong, Jeffrey M Craig, David R Lynch,[...]. Ann Neurol 2012
14
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
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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
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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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
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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
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Friedreich's ataxia. Revision of the phenotype according to molecular genetics.
L Schöls, G Amoiridis, H Przuntek, G Frank, J T Epplen, C Epplen. Brain 1997
L Schöls, G Amoiridis, H Przuntek, G Frank, J T Epplen, C Epplen. Brain 1997
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Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial.
Nicholas A Di Prospero, Angela Baker, Neal Jeffries, Kenneth H Fischbeck. Lancet Neurol 2007
Nicholas A Di Prospero, Angela Baker, Neal Jeffries, Kenneth H Fischbeck. Lancet Neurol 2007
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Diagnosis and treatment of Friedreich ataxia: a European perspective.
Jörg B Schulz, Sylvia Boesch, Katrin Bürk, Alexandra Dürr, Paola Giunti, Caterina Mariotti, Francoise Pousset, Ludger Schöls, Pierre Vankan, Massimo Pandolfo. Nat Rev Neurol 2009
Jörg B Schulz, Sylvia Boesch, Katrin Bürk, Alexandra Dürr, Paola Giunti, Caterina Mariotti, Francoise Pousset, Ludger Schöls, Pierre Vankan, Massimo Pandolfo. Nat Rev Neurol 2009
11
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
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Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells.
Daman Kumari, Rea Erika Biacsi, Karen Usdin. J Biol Chem 2011
Daman Kumari, Rea Erika Biacsi, Karen Usdin. J Biol Chem 2011
17
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.