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, F Zara, J Cañizares, H Koutnikova, S I Bidichandani, C Gellera, A Brice, P Trouillas, G De Michele, A Filla, R De Frutos, F Palau, P I Patel, S Di Donato, J L Mandel, S Cocozza, M Koenig, M Pandolfo. Science 1996
Times Cited: 2035
Times Cited: 2035
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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
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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
17
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
15
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke,[...]. Nat Genet 2019
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke,[...]. Nat Genet 2019
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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.
A E Harding. Brain 1981
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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
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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
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
19
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, Adam L Boxer, Matt Baker, Nicola J Rutherford, Alexandra M Nicholson, NiCole A Finch, Heather Flynn, Jennifer Adamson,[...]. Neuron 2011
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, Adam L Boxer, Matt Baker, Nicola J Rutherford, Alexandra M Nicholson, NiCole A Finch, Heather Flynn, Jennifer Adamson,[...]. Neuron 2011
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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
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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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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
Arnulf H Koeppen. J Neurol Sci 2011
11
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Takeshi Mizuguchi, Kohei Hamanaka, Keiko Mori, Haruki Koike, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Sugiyama,[...]. Nat Genet 2019
Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Takeshi Mizuguchi, Kohei Hamanaka, Keiko Mori, Haruki Koike, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Sugiyama,[...]. Nat Genet 2019
11
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
11
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
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11
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
18
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
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11
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
15
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
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10
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, Yuta Suzuki, Wei Qu, Koichiro Doi, M Asem Almansour, Junko Kanda Kikuchi, Makiko Taira, Jun Mitsui,[...]. Nat Genet 2019
Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, Yuta Suzuki, Wei Qu, Koichiro Doi, M Asem Almansour, Junko Kanda Kikuchi, Makiko Taira, Jun Mitsui,[...]. Nat Genet 2019
10
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki,[...]. Nat Genet 2018
Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki,[...]. Nat Genet 2018
10
Epigenetic therapy for Friedreich ataxia.
Elisabetta Soragni, Wenyan Miao, Marco Iudicello, David Jacoby, Stefania De Mercanti, Marinella Clerico, Filomena Longo, Antonio Piga, Sherman Ku, Erica Campau,[...]. Ann Neurol 2014
Elisabetta Soragni, Wenyan Miao, Marco Iudicello, David Jacoby, Stefania De Mercanti, Marinella Clerico, Filomena Longo, Antonio Piga, Sherman Ku, Erica Campau,[...]. Ann Neurol 2014
10
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
10
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
10
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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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
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
9
An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1.
Jana Gerber, Ulrich Mühlenhoff, Roland Lill. EMBO Rep 2003
Jana Gerber, Ulrich Mühlenhoff, Roland Lill. EMBO Rep 2003
9
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
T Matsuura, T Yamagata, D L Burgess, A Rasmussen, R P Grewal, K Watase, M Khajavi, A E McCall, C F Davis, L Zu,[...]. Nat Genet 2000
T Matsuura, T Yamagata, D L Burgess, A Rasmussen, R P Grewal, K Watase, M Khajavi, A E McCall, C F Davis, L Zu,[...]. Nat Genet 2000
9
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, H Kawakami, S Nakamura, M Nishimura, I Akiguchi. Nat Genet 1994
Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, H Kawakami, S Nakamura, M Nishimura, I Akiguchi. Nat Genet 1994
9
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, Shuichi Asakawa, Taro Ishiguro, Taiji Tsunemi, Makoto Takahashi, Tohru Matsuura, Kevin M Flanigan, Sawa Iwasaki,[...]. Am J Hum Genet 2009
Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, Shuichi Asakawa, Taro Ishiguro, Taiji Tsunemi, Makoto Takahashi, Tohru Matsuura, Kevin M Flanigan, Sawa Iwasaki,[...]. Am J Hum Genet 2009
9
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, D W Stockton, C Amos, W B Dobyns, S H Subramony, H Y Zoghbi, C C Lee. Nat Genet 1997
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, D W Stockton, C Amos, W B Dobyns, S H Subramony, H Y Zoghbi, C C Lee. Nat Genet 1997
9
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
9
Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin.
Sylvain Gervason, Djabir Larkem, Amir Ben Mansour, Thomas Botzanowski, Christina S Müller, Ludovic Pecqueur, Gwenaelle Le Pavec, Agnès Delaunay-Moisan, Omar Brun, Jordi Agramunt,[...]. Nat Commun 2019
Sylvain Gervason, Djabir Larkem, Amir Ben Mansour, Thomas Botzanowski, Christina S Müller, Ludovic Pecqueur, Gwenaelle Le Pavec, Agnès Delaunay-Moisan, Omar Brun, Jordi Agramunt,[...]. Nat Commun 2019
15
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder,[...]. Nat Commun 2019
Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder,[...]. Nat Commun 2019
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Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
R J Hagerman, M Leehey, W Heinrichs, F Tassone, R Wilson, J Hills, J Grigsby, B Gage, P J Hagerman. Neurology 2001
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Non-ATG-initiated translation directed by microsatellite expansions.
Tao Zu, Brian Gibbens, Noelle S Doty, Mário Gomes-Pereira, Aline Huguet, Matthew D Stone, Jamie Margolis, Mark Peterson, Todd W Markowski, Melissa A C Ingram,[...]. Proc Natl Acad Sci U S A 2011
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9
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
C L Liquori, K Ricker, M L Moseley, J F Jacobsen, W Kress, S L Naylor, J W Day, L P Ranum. Science 2001
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9
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz,[...]. Am J Hum Genet 2017
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz,[...]. Am J Hum Genet 2017
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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa,[...]. Nat Commun 2019
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa,[...]. Nat Commun 2019
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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
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8
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
Hatasu Kobayashi, Koji Abe, Tohru Matsuura, Yoshio Ikeda, Toshiaki Hitomi, Yuji Akechi, Toshiyuki Habu, Wanyang Liu, Hiroko Okuda, Akio Koizumi. Am J Hum Genet 2011
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8
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
R Koide, T Ikeuchi, O Onodera, H Tanaka, S Igarashi, K Endo, H Takahashi, R Kondo, A Ishikawa, T Hayashi. Nat Genet 1994
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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.
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8
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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8
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
Yanjie Li, Yue Lu, Urszula Polak, Kevin Lin, Jianjun Shen, Jennifer Farmer, Lauren Seyer, Angela D Bhalla, Natalia Rozwadowska, David R Lynch,[...]. Hum Mol Genet 2015
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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.