Morgane Perdomini, Brahim Belbellaa, Laurent Monassier, Laurence Reutenauer, Nadia Messaddeq, Nathalie Cartier, Ronald G Crystal, Patrick Aubourg, Hélène Puccio. Nat Med 2014
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Times Cited: 133
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
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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
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Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
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Epigenetic therapy for Friedreich ataxia.
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Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.
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A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model.
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Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
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Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.
Yanjie Li, Urszula Polak, Angela D Bhalla, Natalia Rozwadowska, Jill Sergesketter Butler, David R Lynch, Sharon Y R Dent, Marek Napierala. Mol Ther 2015
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Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study.
Vincenzo Libri, Cihangir Yandim, Stavros Athanasopoulos, Naomi Loyse, Theona Natisvili, Pui Pik Law, Ping Kei Chan, Tariq Mohammad, Marta Mauri, Kin Tung Tam,[...]. Lancet 2014
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An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models.
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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
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The pathogenesis of cardiomyopathy in Friedreich ataxia.
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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.
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Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.
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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
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Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.
Vijayendran Chandran, Kun Gao, Vivek Swarup, Revital Versano, Hongmei Dong, Maria C Jordan, Daniel H Geschwind. Elife 2017
Vijayendran Chandran, Kun Gao, Vivek Swarup, Revital Versano, Hongmei Dong, Maria C Jordan, Daniel H Geschwind. Elife 2017
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The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.
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R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.
Matthias Groh, Michele M P Lufino, Richard Wade-Martins, Natalia Gromak. PLoS Genet 2014
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Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
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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
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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
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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
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Pharmacological therapeutics in Friedreich ataxia: the present state.
Cassandra Strawser, Kimberly Schadt, Lauren Hauser, Ashley McCormick, McKenzie Wells, Jane Larkindale, Hong Lin, David R Lynch. Expert Rev Neurother 2017
Cassandra Strawser, Kimberly Schadt, Lauren Hauser, Ashley McCormick, McKenzie Wells, Jane Larkindale, Hong Lin, David R Lynch. Expert Rev Neurother 2017
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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
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Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.
Barbara Tomassini, Gaetano Arcuri, Silvia Fortuni, Chiranjeevi Sandi, Vahid Ezzatizadeh, Carlo Casali, Ivano Condò, Florence Malisan, Sahar Al-Mahdawi, Mark Pook,[...]. Hum Mol Genet 2012
Barbara Tomassini, Gaetano Arcuri, Silvia Fortuni, Chiranjeevi Sandi, Vahid Ezzatizadeh, Carlo Casali, Ivano Condò, Florence Malisan, Sahar Al-Mahdawi, Mark Pook,[...]. Hum Mol Genet 2012
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A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.
Sara Anjomani Virmouni, Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Yogesh Chutake, Mark A Pook. Dis Model Mech 2015
Sara Anjomani Virmouni, Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Yogesh Chutake, Mark A Pook. Dis Model Mech 2015
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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
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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
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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
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A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.
Francoise Pousset, Lise Legrand, Marie-Lorraine Monin, Claire Ewenczyk, Perrine Charles, Michel Komajda, Alexis Brice, Massimo Pandolfo, Richard Isnard, Sophie Tezenas du Montcel,[...]. JAMA Neurol 2015
Francoise Pousset, Lise Legrand, Marie-Lorraine Monin, Claire Ewenczyk, Perrine Charles, Michel Komajda, Alexis Brice, Massimo Pandolfo, Richard Isnard, Sophie Tezenas du Montcel,[...]. JAMA Neurol 2015
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Oxidative stress in patients with Friedreich ataxia.
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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
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An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels.
Eppie M Yiu, Geneieve Tai, Roger E Peverill, Katherine J Lee, Kevin D Croft, Trevor A Mori, Barbara Scheiber-Mojdehkar, Brigitte Sturm, Monika Praschberger, Adam P Vogel,[...]. J Neurol 2015
Eppie M Yiu, Geneieve Tai, Roger E Peverill, Katherine J Lee, Kevin D Croft, Trevor A Mori, Barbara Scheiber-Mojdehkar, Brigitte Sturm, Monika Praschberger, Adam P Vogel,[...]. J Neurol 2015
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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
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Animal and cellular models of Friedreich ataxia.
Morgane Perdomini, Aurore Hick, Hélène Puccio, Mark A Pook. J Neurochem 2013
Morgane Perdomini, Aurore Hick, Hélène Puccio, Mark A Pook. J Neurochem 2013
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The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms.
Frank Weidemann, Christian Rummey, Bart Bijnens, Stefan Störk, Ruta Jasaityte, Jan Dhooge, Aigul Baltabaeva, George Sutherland, Jörg B Schulz, Thomas Meier. Circulation 2012
Frank Weidemann, Christian Rummey, Bart Bijnens, Stefan Störk, Ruta Jasaityte, Jan Dhooge, Aigul Baltabaeva, George Sutherland, Jörg B Schulz, Thomas Meier. Circulation 2012
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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
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Mitochondrial pathophysiology in Friedreich's ataxia.
Pilar González-Cabo, Francesc Palau. J Neurochem 2013
Pilar González-Cabo, Francesc Palau. J Neurochem 2013
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PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia.
Daniele Marmolino, Mario Manto, Fabio Acquaviva, Paola Vergara, Ajay Ravella, Antonella Monticelli, Massimo Pandolfo. PLoS One 2010
Daniele Marmolino, Mario Manto, Fabio Acquaviva, Paola Vergara, Ajay Ravella, Antonella Monticelli, Massimo Pandolfo. PLoS One 2010
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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
13
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
22
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.