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
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
48
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
34
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
20
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 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
16
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
Arnulf H Koeppen. J Neurol Sci 2011
15
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
14
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
14
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
14
Scale for the assessment and rating of ataxia: development of a new clinical scale.
T Schmitz-Hübsch, S Tezenas du Montcel, L Baliko, J Berciano, S Boesch, C Depondt, P Giunti, C Globas, J Infante, J-S Kang,[...]. Neurology 2006
T Schmitz-Hübsch, S Tezenas du Montcel, L Baliko, J Berciano, S Boesch, C Depondt, P Giunti, C Globas, J Infante, J-S Kang,[...]. Neurology 2006
13
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
13
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
13
Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation.
Tanel Punga, Marc Bühler. EMBO Mol Med 2010
Tanel Punga, Marc Bühler. EMBO Mol Med 2010
14
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
13
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
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
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
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
11
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
11
Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA).
Sarah J Lagedrost, Martin St John Sutton, Meryl S Cohen, Gary M Satou, Beth D Kaufman, Susan L Perlman, Christian Rummey, Thomas Meier, David R Lynch. Am Heart J 2011
Sarah J Lagedrost, Martin St John Sutton, Meryl S Cohen, Gary M Satou, Beth D Kaufman, Susan L Perlman, Christian Rummey, Thomas Meier, David R Lynch. Am Heart J 2011
13
10
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.
A O Hausse, Y Aggoun, D Bonnet, D Sidi, A Munnich, A Rötig, P Rustin. Heart 2002
A O Hausse, Y Aggoun, D Bonnet, D Sidi, A Munnich, A Rötig, P Rustin. Heart 2002
10
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
10
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
10
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
10
Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial.
C Mariotti, A Solari, D Torta, L Marano, C Fiorentini, S Di Donato. Neurology 2003
C Mariotti, A Solari, D Torta, L Marano, C Fiorentini, S Di Donato. Neurology 2003
10
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
10
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
11
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
10
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro.
Ed Grabczyk, Miriam Mancuso, Mimi C Sammarco. Nucleic Acids Res 2007
Ed Grabczyk, Miriam Mancuso, Mimi C Sammarco. Nucleic Acids Res 2007
9
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
9
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
9
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model.
Chiranjeevi Sandi, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Vahid Ezzatizadeh, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Mark A Pook. Neurobiol Dis 2011
Chiranjeevi Sandi, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Vahid Ezzatizadeh, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Mark A Pook. Neurobiol Dis 2011
9
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
11
Selective iron chelation in Friedreich ataxia: biologic and clinical implications.
Nathalie Boddaert, Kim Hanh Le Quan Sang, Agnès Rötig, Anne Leroy-Willig, Serge Gallet, Francis Brunelle, Daniel Sidi, Jean-Christophe Thalabard, Arnold Munnich, Z Ioav Cabantchik. Blood 2007
Nathalie Boddaert, Kim Hanh Le Quan Sang, Agnès Rötig, Anne Leroy-Willig, Serge Gallet, Francis Brunelle, Daniel Sidi, Jean-Christophe Thalabard, Arnold Munnich, Z Ioav Cabantchik. Blood 2007
8
Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription.
Irene De Biase, Yogesh K Chutake, Paul M Rindler, Sanjay I Bidichandani. PLoS One 2009
Irene De Biase, Yogesh K Chutake, Paul M Rindler, Sanjay I Bidichandani. PLoS One 2009
9
Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring.
G Buyse, L Mertens, G Di Salvo, I Matthijs, F Weidemann, B Eyskens, W Goossens, N Goemans, G R Sutherland, J L K Van Hove. Neurology 2003
G Buyse, L Mertens, G Di Salvo, I Matthijs, F Weidemann, B Eyskens, W Goossens, N Goemans, G R Sutherland, J L K Van Hove. Neurology 2003
8
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.
Kathrin Reetz, Imis Dogan, Ralf-Dieter Hilgers, Paola Giunti, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodriguez de Rivera, Ludger Schöls,[...]. Lancet Neurol 2016
Kathrin Reetz, Imis Dogan, Ralf-Dieter Hilgers, Paola Giunti, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodriguez de Rivera, Ludger Schöls,[...]. Lancet Neurol 2016
12
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
7
Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study.
Thomas Meier, Susan L Perlman, Christian Rummey, Nicholas J Coppard, David R Lynch. J Neurol 2012
Thomas Meier, Susan L Perlman, Christian Rummey, Nicholas J Coppard, David R Lynch. J Neurol 2012
11
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
7
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
7
Coenzyme Q10 and vitamin E deficiency in Friedreich's ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy.
J M Cooper, L V P Korlipara, P E Hart, J L Bradley, A H V Schapira. Eur J Neurol 2008
J M Cooper, L V P Korlipara, P E Hart, J L Bradley, A H V Schapira. Eur J Neurol 2008
7
Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.
L Pianese, M Turano, M S Lo Casale, I De Biase, M Giacchetti, A Monticelli, C Criscuolo, A Filla, S Cocozza. J Neurol Neurosurg Psychiatry 2004
L Pianese, M Turano, M S Lo Casale, I De Biase, M Giacchetti, A Monticelli, C Criscuolo, A Filla, S Cocozza. J Neurol Neurosurg Psychiatry 2004
11
Measuring Friedreich ataxia: complementary features of examination and performance measures.
D R Lynch, J M Farmer, A Y Tsou, S Perlman, S H Subramony, C M Gomez, T Ashizawa, G R Wilmot, R B Wilson, L J Balcer. Neurology 2006
D R Lynch, J M Farmer, A Y Tsou, S Perlman, S H Subramony, C M Gomez, T Ashizawa, G R Wilmot, R B Wilson, L J Balcer. Neurology 2006
7
Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up.
Paul E Hart, Raffaele Lodi, Bheeshma Rajagopalan, Jane L Bradley, Jenifer G Crilley, Christopher Turner, Andrew M Blamire, David Manners, Peter Styles, Anthony H V Schapira,[...]. Arch Neurol 2005
Paul E Hart, Raffaele Lodi, Bheeshma Rajagopalan, Jane L Bradley, Jenifer G Crilley, Christopher Turner, Andrew M Blamire, David Manners, Peter Styles, Anthony H V Schapira,[...]. Arch Neurol 2005
7
7
Increased iron in the dentate nucleus of patients with Friedrich's ataxia.
D Waldvogel, P van Gelderen, M Hallett. Ann Neurol 1999
D Waldvogel, P van Gelderen, M Hallett. Ann Neurol 1999
6
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.