M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, A Nivelon-Chevallier, K H Gustavson, A Kohlschütter, U Müller, J L Mandel, A Brice, M Koenig, F Cavalcanti, A Tammaro, G De Michele, A Filla, S Cocozza, M Labuda, L Montermini, J Poirier, M Pandolfo. Ann Neurol 1999
Times Cited: 258
Times Cited: 258
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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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
45
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
37
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
34
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
30
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
22
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
21
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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Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
M Cossée, M Schmitt, V Campuzano, L Reutenauer, C Moutou, J L Mandel, M Koenig. Proc Natl Acad Sci U S A 1997
M Cossée, M Schmitt, V Campuzano, L Reutenauer, C Moutou, J L Mandel, M Koenig. Proc Natl Acad Sci U S A 1997
20
Frataxin gene point mutations in Italian Friedreich ataxia patients.
Cinzia Gellera, Barbara Castellotti, Caterina Mariotti, Rossana Mineri, Viviana Seveso, Stefano Didonato, Franco Taroni. Neurogenetics 2007
Cinzia Gellera, Barbara Castellotti, Caterina Mariotti, Rossana Mineri, Viviana Seveso, Stefano Didonato, Franco Taroni. Neurogenetics 2007
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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
27
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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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
19
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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
18
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
S I Bidichandani, T Ashizawa, P I Patel. Am J Hum Genet 1997
S I Bidichandani, T Ashizawa, P I Patel. Am J Hum Genet 1997
18
Clinical features of Friedreich's ataxia: classical and atypical phenotypes.
Michael H Parkinson, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Paola Giunti. J Neurochem 2013
Michael H Parkinson, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Paola Giunti. J Neurochem 2013
18
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
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
16
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
S M Forrest, M Knight, M B Delatycki, D Paris, R Williamson, J King, L Yeung, N Nassif, G A Nicholson. Neurogenetics 1998
S M Forrest, M Knight, M B Delatycki, D Paris, R Williamson, J King, L Yeung, N Nassif, G A Nicholson. Neurogenetics 1998
29
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
15
Crystal structure of human frataxin.
S Dhe-Paganon, R Shigeta, Y I Chi, M Ristow, S E Shoelson. J Biol Chem 2000
S Dhe-Paganon, R Shigeta, Y I Chi, M Ristow, S E Shoelson. J Biol Chem 2000
15
Exonic deletions of FXN and early-onset Friedreich ataxia.
Mathieu Anheim, Louise-Laure Mariani, Patrick Calvas, Emmanuel Cheuret, Fabien Zagnoli, Sylvie Odent, Claire Seguela, Cecilia Marelli, Marlène Fritsch, Jean-Pierre Delaunoy,[...]. Arch Neurol 2012
Mathieu Anheim, Louise-Laure Mariani, Patrick Calvas, Emmanuel Cheuret, Fabien Zagnoli, Sylvie Odent, Claire Seguela, Cecilia Marelli, Marlène Fritsch, Jean-Pierre Delaunoy,[...]. Arch Neurol 2012
50
The in vivo mitochondrial two-step maturation of human frataxin.
Stéphane Schmucker, Manuela Argentini, Nadège Carelle-Calmels, Alain Martelli, Hélène Puccio. Hum Mol Genet 2008
Stéphane Schmucker, Manuela Argentini, Nadège Carelle-Calmels, Alain Martelli, Hélène Puccio. Hum Mol Genet 2008
15
In vivo maturation of human frataxin.
Ivano Condò, Natascia Ventura, Florence Malisan, Alessandra Rufini, Barbara Tomassini, Roberto Testi. Hum Mol Genet 2007
Ivano Condò, Natascia Ventura, Florence Malisan, Alessandra Rufini, Barbara Tomassini, Roberto Testi. Hum Mol Genet 2007
16
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
15
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
15
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
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.
Francesco Saccà, Giorgia Puorro, Antonella Antenora, Angela Marsili, Alessandra Denaro, Raffaele Piro, Pierpaolo Sorrentino, Chiara Pane, Alessandra Tessa, Vincenzo Brescia Morra,[...]. PLoS One 2011
Francesco Saccà, Giorgia Puorro, Antonella Antenora, Angela Marsili, Alessandra Denaro, Raffaele Piro, Pierpaolo Sorrentino, Chiara Pane, Alessandra Tessa, Vincenzo Brescia Morra,[...]. PLoS One 2011
32
Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.
Salvatore Adinolfi, Clara Iannuzzi, Filippo Prischi, Chiara Pastore, Stefania Iametti, Stephen R Martin, Franco Bonomi, Annalisa Pastore. Nat Struct Mol Biol 2009
Salvatore Adinolfi, Clara Iannuzzi, Filippo Prischi, Chiara Pastore, Stefania Iametti, Stephen R Martin, Franco Bonomi, Annalisa Pastore. Nat Struct Mol Biol 2009
14
Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.
M L McCormack, R P Guttmann, M Schumann, J M Farmer, C A Stolle, V Campuzano, M Koenig, D R Lynch. J Neurol Neurosurg Psychiatry 2000
M L McCormack, R P Guttmann, M Schumann, J M Farmer, C A Stolle, V Campuzano, M Koenig, D R Lynch. J Neurol Neurosurg Psychiatry 2000
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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
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
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
14
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
17
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
13
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
13
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
13
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
13
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
12
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
12
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
12
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
12
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
12
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
12
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
12
Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.
Massimo Pandolfo, Javier Arpa, Martin B Delatycki, Kim Hanh Le Quan Sang, Caterina Mariotti, Arnold Munnich, Irene Sanz-Gallego, Geneieve Tai, Mark A Tarnopolsky, Franco Taroni,[...]. Ann Neurol 2014
Massimo Pandolfo, Javier Arpa, Martin B Delatycki, Kim Hanh Le Quan Sang, Caterina Mariotti, Arnold Munnich, Irene Sanz-Gallego, Geneieve Tai, Mark A Tarnopolsky, Franco Taroni,[...]. Ann Neurol 2014
15
Frataxin levels in peripheral tissue in Friedreich ataxia.
Michael Lazaropoulos, Yina Dong, Elisia Clark, Nathaniel R Greeley, Lauren A Seyer, Karlla W Brigatti, Carlton Christie, Susan L Perlman, George R Wilmot, Christoper M Gomez,[...]. Ann Clin Transl Neurol 2015
Michael Lazaropoulos, Yina Dong, Elisia Clark, Nathaniel R Greeley, Lauren A Seyer, Karlla W Brigatti, Carlton Christie, Susan L Perlman, George R Wilmot, Christoper M Gomez,[...]. Ann Clin Transl Neurol 2015
33
Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes.
Miriam Cnop, Mariana Igoillo-Esteve, Myriam Rai, Audrey Begu, Yasmina Serroukh, Chantal Depondt, Anyishai E Musuaya, Ihsane Marhfour, Laurence Ladrière, Xavier Moles Lopez,[...]. Ann Neurol 2012
Miriam Cnop, Mariana Igoillo-Esteve, Myriam Rai, Audrey Begu, Yasmina Serroukh, Chantal Depondt, Anyishai E Musuaya, Ihsane Marhfour, Laurence Ladrière, Xavier Moles Lopez,[...]. Ann Neurol 2012
19
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.