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, Francoise Pousset, Michael Parkinson, Robyn Labrum, Paola Giunti, Susan L Perlman, Martin B Delatycki, Marguerite V Evans-Galea. Ann Neurol 2016
Times Cited: 72
Times Cited: 72
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
65
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
36
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
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
29
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
29
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
27
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
25
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
23
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
22
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
22
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
Arnulf H Koeppen. J Neurol Sci 2011
22
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
20
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
20
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
20
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
19
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
19
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
19
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
19
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
18
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
18
16
Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia.
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
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
16
16
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
23
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
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
19
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
16
Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism.
Nicholas G Fox, Xiaodi Yu, Xidong Feng, Henry J Bailey, Alain Martelli, Joseph F Nabhan, Claire Strain-Damerell, Christine Bulawa, Wyatt W Yue, Seungil Han. Nat Commun 2019
Nicholas G Fox, Xiaodi Yu, Xidong Feng, Henry J Bailey, Alain Martelli, Joseph F Nabhan, Claire Strain-Damerell, Christine Bulawa, Wyatt W Yue, Seungil Han. Nat Commun 2019
19
Consensus clinical management guidelines for Friedreich ataxia.
Louise A Corben, David Lynch, Massimo Pandolfo, Jörg B Schulz, Martin B Delatycki. Orphanet J Rare Dis 2014
Louise A Corben, David Lynch, Massimo Pandolfo, Jörg B Schulz, Martin B Delatycki. Orphanet J Rare Dis 2014
22
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
15
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
15
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
15
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale.
S H Subramony, W May, D Lynch, C Gomez, K Fischbeck, M Hallett, P Taylor, R Wilson, T Ashizawa. Neurology 2005
S H Subramony, W May, D Lynch, C Gomez, K Fischbeck, M Hallett, P Taylor, R Wilson, T Ashizawa. Neurology 2005
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
15
Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.
Françoise Piguet, Charline de Montigny, Nadège Vaucamps, Laurence Reutenauer, Aurélie Eisenmann, Hélène Puccio. Mol Ther 2018
Françoise Piguet, Charline de Montigny, Nadège Vaucamps, Laurence Reutenauer, Aurélie Eisenmann, Hélène Puccio. Mol Ther 2018
21
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
13
The pathogenesis of cardiomyopathy in Friedreich ataxia.
Arnulf H Koeppen, R Liane Ramirez, Alyssa B Becker, Sarah T Bjork, Sonia Levi, Paolo Santambrogio, Patrick J Parsons, Pamela C Kruger, Karl X Yang, Paul J Feustel,[...]. PLoS One 2015
Arnulf H Koeppen, R Liane Ramirez, Alyssa B Becker, Sarah T Bjork, Sonia Levi, Paolo Santambrogio, Patrick J Parsons, Pamela C Kruger, Karl X Yang, Paul J Feustel,[...]. PLoS One 2015
14
Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.
Jennifer Bridwell-Rabb, Nicholas G Fox, Chi-Lin Tsai, Andrew M Winn, David P Barondeau. Biochemistry 2014
Jennifer Bridwell-Rabb, Nicholas G Fox, Chi-Lin Tsai, Andrew M Winn, David P Barondeau. Biochemistry 2014
13
Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons.
Valentina D'Oria, Stefania Petrini, Lorena Travaglini, Chiara Priori, Emanuela Piermarini, Sara Petrillo, Barbara Carletti, Enrico Bertini, Fiorella Piemonte. Int J Mol Sci 2013
Valentina D'Oria, Stefania Petrini, Lorena Travaglini, Chiara Priori, Emanuela Piermarini, Sara Petrillo, Barbara Carletti, Enrico Bertini, Fiorella Piemonte. Int J Mol Sci 2013
17
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
13
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
13
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.
Alain Martelli, Hélène Puccio. Front Pharmacol 2014
Alain Martelli, Hélène Puccio. Front Pharmacol 2014
13
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
27
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.
H Koutnikova, V Campuzano, M Koenig. Hum Mol Genet 1998
H Koutnikova, V Campuzano, M Koenig. Hum Mol Genet 1998
13
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
13
Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia.
Sara Petrillo, Emanuela Piermarini, Anna Pastore, Gessica Vasco, Tommaso Schirinzi, Rosalba Carrozzo, Enrico Bertini, Fiorella Piemonte. Int J Mol Sci 2017
Sara Petrillo, Emanuela Piermarini, Anna Pastore, Gessica Vasco, Tommaso Schirinzi, Rosalba Carrozzo, Enrico Bertini, Fiorella Piemonte. Int J Mol Sci 2017
22
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
David R Lynch, Jennifer Farmer, Lauren Hauser, Ian A Blair, Qing Qing Wang, Clementina Mesaros, Nathaniel Snyder, Sylvia Boesch, Melanie Chin, Martin B Delatycki,[...]. Ann Clin Transl Neurol 2018
David R Lynch, Jennifer Farmer, Lauren Hauser, Ian A Blair, Qing Qing Wang, Clementina Mesaros, Nathaniel Snyder, Sylvia Boesch, Melanie Chin, Martin B Delatycki,[...]. Ann Clin Transl Neurol 2018
17
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
27
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
Sunil Sahdeo, Brian D Scott, Marissa Z McMackin, Mittal Jasoliya, Brandon Brown, Heike Wulff, Susan L Perlman, Mark A Pook, Gino A Cortopassi. Hum Mol Genet 2014
Sunil Sahdeo, Brian D Scott, Marissa Z McMackin, Mittal Jasoliya, Brandon Brown, Heike Wulff, Susan L Perlman, Mark A Pook, Gino A Cortopassi. Hum Mol Genet 2014
18
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.