D Waldvogel, P van Gelderen, M Hallett. Ann Neurol 1999
Times Cited: 166
Times Cited: 166
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
49
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
45
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
31
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
24
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
24
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
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
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
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
20
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
20
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
18
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
18
The effect of age on the non-haemin iron in the human brain.
B HALLGREN, P SOURANDER. J Neurochem 1958
B HALLGREN, P SOURANDER. J Neurochem 1958
17
The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases.
J B Lamarche, M Côté, B Lemieux. Can J Neurol Sci 1980
J B Lamarche, M Côté, B Lemieux. Can J Neurol Sci 1980
17
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
Arnulf H Koeppen. J Neurol Sci 2011
17
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation.
Or Kakhlon, Hila Manning, William Breuer, Naomi Melamed-Book, Chunye Lu, Gino Cortopassi, Arnold Munnich, Z Ioav Cabantchik. Blood 2008
Or Kakhlon, Hila Manning, William Breuer, Naomi Melamed-Book, Chunye Lu, Gino Cortopassi, Arnold Munnich, Z Ioav Cabantchik. Blood 2008
16
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
16
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
23
Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia.
Daniel Velasco-Sánchez, Asuncion Aracil, Raquel Montero, Ana Mas, Lorenzo Jiménez, Mar O'Callaghan, Maria Tondo, Antoni Capdevila, Josep Blanch, Rafael Artuch,[...]. Cerebellum 2011
Daniel Velasco-Sánchez, Asuncion Aracil, Raquel Montero, Ana Mas, Lorenzo Jiménez, Mar O'Callaghan, Maria Tondo, Antoni Capdevila, Josep Blanch, Rafael Artuch,[...]. Cerebellum 2011
15
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
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
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.
Kuanyu Li, Edward K Besse, Dung Ha, Gennadiy Kovtunovych, Tracey A Rouault. Hum Mol Genet 2008
Kuanyu Li, Edward K Besse, Dung Ha, Gennadiy Kovtunovych, Tracey A Rouault. Hum Mol Genet 2008
13
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
13
Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia.
Susan Michael, Simone V Petrocine, Jiang Qian, Jacques B Lamarche, Mitchell D Knutson, Michael D Garrick, Arnulf H Koeppen. Cerebellum 2006
Susan Michael, Simone V Petrocine, Jiang Qian, Jacques B Lamarche, Mitchell D Knutson, Michael D Garrick, Arnulf H Koeppen. Cerebellum 2006
14
Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry.
Riccardo Della Nave, Andrea Ginestroni, Carlo Tessa, Elena Salvatore, Ilaria Bartolomei, Fabrizio Salvi, Maria Teresa Dotti, Giuseppe De Michele, Silvia Piacentini, Mario Mascalchi. Neuroimage 2008
Riccardo Della Nave, Andrea Ginestroni, Carlo Tessa, Elena Salvatore, Ilaria Bartolomei, Fabrizio Salvi, Maria Teresa Dotti, Giuseppe De Michele, Silvia Piacentini, Mario Mascalchi. Neuroimage 2008
16
Friedreich's ataxia. Revision of the phenotype according to molecular genetics.
L Schöls, G Amoiridis, H Przuntek, G Frank, J T Epplen, C Epplen. Brain 1997
L Schöls, G Amoiridis, H Przuntek, G Frank, J T Epplen, C Epplen. Brain 1997
12
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
12
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
12
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
12
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
14
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
12
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
19
Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia.
C Bonilha da Silva, F P G Bergo, A D'Abreu, F Cendes, I Lopes-Cendes, M C França. Eur J Neurol 2014
C Bonilha da Silva, F P G Bergo, A D'Abreu, F Cendes, I Lopes-Cendes, M C França. Eur J Neurol 2014
36
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.
S I Bidichandani, T Ashizawa, P I Patel. Am J Hum Genet 1998
S I Bidichandani, T Ashizawa, P I Patel. Am J Hum Genet 1998
11
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
11
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
11
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
11
Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue.
R B Wilson, D M Roof. Nat Genet 1997
R B Wilson, D M Roof. Nat Genet 1997
11
RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila.
Peter R Anderson, Kim Kirby, Arthur J Hilliker, John P Phillips. Hum Mol Genet 2005
Peter R Anderson, Kim Kirby, Arthur J Hilliker, John P Phillips. Hum Mol Genet 2005
11
Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia.
Delphine Simon, Hervé Seznec, Anne Gansmuller, Nadège Carelle, Philipp Weber, Daniel Metzger, Pierre Rustin, Michel Koenig, Hélène Puccio. J Neurosci 2004
Delphine Simon, Hervé Seznec, Anne Gansmuller, Nadège Carelle, Philipp Weber, Daniel Metzger, Pierre Rustin, Michel Koenig, Hélène Puccio. J Neurosci 2004
11
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia.
José V Llorens, Juan A Navarro, Maria J Martínez-Sebastián, Mary K Baylies, S Schneuwly, José A Botella, Maria D Moltó. FASEB J 2007
José V Llorens, Juan A Navarro, Maria J Martínez-Sebastián, Mary K Baylies, S Schneuwly, José A Botella, Maria D Moltó. FASEB J 2007
11
Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord.
M Mascalchi, F Salvi, S Piacentini, C Bartolozzi. AJR Am J Roentgenol 1994
M Mascalchi, F Salvi, S Piacentini, C Bartolozzi. AJR Am J Roentgenol 1994
16
High-field magnetic resonance imaging of brain iron: birth of a biomarker?
John F Schenck, Earl A Zimmerman. NMR Biomed 2004
John F Schenck, Earl A Zimmerman. NMR Biomed 2004
10
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
10
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
10
Deferiprone targets aconitase: implication for Friedreich's ataxia treatment.
Sergio Goncalves, Vincent Paupe, Emmanuel P Dassa, Pierre Rustin. BMC Neurol 2008
Sergio Goncalves, Vincent Paupe, Emmanuel P Dassa, Pierre Rustin. BMC Neurol 2008
20
Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications.
Yang-Sung Sohn, William Breuer, Arnold Munnich, Z Ioav Cabantchik. Blood 2008
Yang-Sung Sohn, William Breuer, Arnold Munnich, Z Ioav Cabantchik. Blood 2008
10
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
10
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.