Arnulf H Koeppen, Joseph E Mazurkiewicz. J Neuropathol Exp Neurol 2013
Times Cited: 154
Times Cited: 154
Times Cited
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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
30
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
24
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
22
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
21
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
21
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
Arnulf H Koeppen. J Neurol Sci 2011
19
Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia.
Arnulf H Koeppen, Alyssa B Becker, Jiang Qian, Paul J Feustel. J Neuropathol Exp Neurol 2017
Arnulf H Koeppen, Alyssa B Becker, Jiang Qian, Paul J Feustel. J Neuropathol Exp Neurol 2017
51
Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation.
Arnulf H Koeppen, R Liane Ramirez, Alyssa B Becker, Joseph E Mazurkiewicz. Acta Neuropathol Commun 2016
Arnulf H Koeppen, R Liane Ramirez, Alyssa B Becker, Joseph E Mazurkiewicz. Acta Neuropathol Commun 2016
46
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
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
18
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
17
The dorsal root ganglion in Friedreich's ataxia.
Arnulf H Koeppen, Jennifer A Morral, Ashley N Davis, Jiang Qian, Simone V Petrocine, Mitchell D Knutson, Walter M Gibson, Matthew J Cusack, Danhong Li. Acta Neuropathol 2009
Arnulf H Koeppen, Jennifer A Morral, Ashley N Davis, Jiang Qian, Simone V Petrocine, Mitchell D Knutson, Walter M Gibson, Matthew J Cusack, Danhong Li. Acta Neuropathol 2009
20
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
26
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
17
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
18
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
16
Cognition in Friedreich's ataxia: a behavioral and multimodal imaging study.
Imis Dogan, Eugenie Tinnemann, Sandro Romanzetti, Shahram Mirzazade, Ana S Costa, Cornelius J Werner, Stefan Heim, Kathrin Fedosov, Stefanie Schulz, Dagmar Timmann,[...]. Ann Clin Transl Neurol 2016
Imis Dogan, Eugenie Tinnemann, Sandro Romanzetti, Shahram Mirzazade, Ana S Costa, Cornelius J Werner, Stefan Heim, Kathrin Fedosov, Stefanie Schulz, Dagmar Timmann,[...]. Ann Clin Transl Neurol 2016
40
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
15
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
15
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
15
Cerebral abnormalities in Friedreich ataxia: A review.
Louisa P Selvadurai, Ian H Harding, Louise A Corben, Nellie Georgiou-Karistianis. Neurosci Biobehav Rev 2018
Louisa P Selvadurai, Ian H Harding, Louise A Corben, Nellie Georgiou-Karistianis. Neurosci Biobehav Rev 2018
46
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
30
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
24
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
14
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
14
The cerebellar component of Friedreich's ataxia.
Arnulf H Koeppen, Ashley N Davis, Jennifer A Morral. Acta Neuropathol 2011
Arnulf H Koeppen, Ashley N Davis, Jennifer A Morral. Acta Neuropathol 2011
24
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
14
Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.
Arantxa Bolinches-Amorós, Belén Mollá, David Pla-Martín, Francesc Palau, Pilar González-Cabo. Front Cell Neurosci 2014
Arantxa Bolinches-Amorós, Belén Mollá, David Pla-Martín, Francesc Palau, Pilar González-Cabo. Front Cell Neurosci 2014
28
Friedreich's ataxia causes redistribution of iron, copper, and zinc in the dentate nucleus.
Arnulf H Koeppen, R Liane Ramirez, Devin Yu, Sarah E Collins, Jiang Qian, Patrick J Parsons, Karl X Yang, Zewu Chen, Joseph E Mazurkiewicz, Paul J Feustel. Cerebellum 2012
Arnulf H Koeppen, R Liane Ramirez, Devin Yu, Sarah E Collins, Jiang Qian, Patrick J Parsons, Karl X Yang, Zewu Chen, Joseph E Mazurkiewicz, Paul J Feustel. Cerebellum 2012
22
Pathology and pathogenesis of sensory neuropathy in Friedreich's ataxia.
Jennifer A Morral, Ashley N Davis, Jiang Qian, Benjamin B Gelman, Arnulf H Koeppen. Acta Neuropathol 2010
Jennifer A Morral, Ashley N Davis, Jiang Qian, Benjamin B Gelman, Arnulf H Koeppen. Acta Neuropathol 2010
23
Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).
Kathrin Reetz, Imis Dogan, Christian Hohenfeld, Claire Didszun, Paola Giunti, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido,[...]. Neurology 2018
Kathrin Reetz, Imis Dogan, Christian Hohenfeld, Claire Didszun, Paola Giunti, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido,[...]. Neurology 2018
48
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
17
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
Cognition in Friedreich ataxia.
Antonieta Nieto, Rut Correia, Erika de Nóbrega, Fernando Montón, Stephany Hess, Jose Barroso. Cerebellum 2012
Antonieta Nieto, Rut Correia, Erika de Nóbrega, Fernando Montón, Stephany Hess, Jose Barroso. Cerebellum 2012
30
Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study.
Louisa P Selvadurai, Ian H Harding, Louise A Corben, Monique R Stagnitti, Elsdon Storey, Gary F Egan, Martin B Delatycki, Nellie Georgiou-Karistianis. J Neurol 2016
Louisa P Selvadurai, Ian H Harding, Louise A Corben, Monique R Stagnitti, Elsdon Storey, Gary F Egan, Martin B Delatycki, Nellie Georgiou-Karistianis. J Neurol 2016
33
Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study.
Ian H Harding, Parnesh Raniga, Martin B Delatycki, Monique R Stagnitti, Louise A Corben, Elsdon Storey, Nellie Georgiou-Karistianis, Gary F Egan. J Neurol Neurosurg Psychiatry 2016
Ian H Harding, Parnesh Raniga, Martin B Delatycki, Monique R Stagnitti, Louise A Corben, Elsdon Storey, Nellie Georgiou-Karistianis, Gary F Egan. J Neurol Neurosurg Psychiatry 2016
46
Longitudinal magnetic resonance imaging study shows progressive pyramidal and callosal damage in Friedreich's ataxia.
Thiago J R Rezende, Cynthia B Silva, Clarissa L Yassuda, Brunno M Campos, Anelyssa D'Abreu, Fernando Cendes, Iscia Lopes-Cendes, Marcondes C França. Mov Disord 2016
Thiago J R Rezende, Cynthia B Silva, Clarissa L Yassuda, Brunno M Campos, Anelyssa D'Abreu, Fernando Cendes, Iscia Lopes-Cendes, Marcondes C França. Mov Disord 2016
34
Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia.
Mariana Igoillo-Esteve, Ewa Gurgul-Convey, Amélie Hu, Laila Romagueira Bichara Dos Santos, Baroj Abdulkarim, Satyan Chintawar, Lorella Marselli, Piero Marchetti, Jean-Christophe Jonas, Décio L Eizirik,[...]. Hum Mol Genet 2015
Mariana Igoillo-Esteve, Ewa Gurgul-Convey, Amélie Hu, Laila Romagueira Bichara Dos Santos, Baroj Abdulkarim, Satyan Chintawar, Lorella Marselli, Piero Marchetti, Jean-Christophe Jonas, Décio L Eizirik,[...]. Hum Mol Genet 2015
25
Mitochondrial pathophysiology in Friedreich's ataxia.
Pilar González-Cabo, Francesc Palau. J Neurochem 2013
Pilar González-Cabo, Francesc Palau. J Neurochem 2013
21
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
11
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
11
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
11
Altered lipid metabolism in a Drosophila model of Friedreich's ataxia.
Juan A Navarro, Elisabeth Ohmann, Diego Sanchez, José A Botella, Gerhard Liebisch, María D Moltó, María D Ganfornina, Gerd Schmitz, Stephan Schneuwly. Hum Mol Genet 2010
Juan A Navarro, Elisabeth Ohmann, Diego Sanchez, José A Botella, Gerhard Liebisch, María D Moltó, María D Ganfornina, Gerd Schmitz, Stephan Schneuwly. Hum Mol Genet 2010
16
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
25
Brain structural damage in Friedreich's ataxia.
R Della Nave, A Ginestroni, M Giannelli, C Tessa, E Salvatore, F Salvi, M T Dotti, G De Michele, S Piacentini, M Mascalchi. J Neurol Neurosurg Psychiatry 2008
R Della Nave, A Ginestroni, M Giannelli, C Tessa, E Salvatore, F Salvi, M T Dotti, G De Michele, S Piacentini, M Mascalchi. J Neurol Neurosurg Psychiatry 2008
15
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
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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.