Maya Patel, Charles J Isaacs, Lauren Seyer, Karlla Brigatti, Sarah Gelbard, Cassandra Strawser, Debbie Foerster, Julianna Shinnick, Kimberly Schadt, Eppie M Yiu, Martin B Delatycki, Susan Perlman, George R Wilmot, Theresa Zesiewicz, Katherine Mathews, Christopher M Gomez, Grace Yoon, Sub H Subramony, Alicia Brocht, Jennifer Farmer, David R Lynch. Ann Clin Transl Neurol 2016
Times Cited: 62
Times Cited: 62
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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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
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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
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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
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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
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Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.
Lisa S Friedman, Jennifer M Farmer, Susan Perlman, George Wilmot, Christopher M Gomez, Khalaf O Bushara, Katherine D Mathews, S H Subramony, Tetsuo Ashizawa, Laura J Balcer,[...]. Mov Disord 2010
Lisa S Friedman, Jennifer M Farmer, Susan Perlman, George Wilmot, Christopher M Gomez, Khalaf O Bushara, Katherine D Mathews, S H Subramony, Tetsuo Ashizawa, Laura J Balcer,[...]. Mov Disord 2010
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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
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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
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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
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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
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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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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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Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
Sean R Regner, Nicholas S Wilcox, Lisa S Friedman, Lauren A Seyer, Kim A Schadt, Karlla W Brigatti, Susan Perlman, Martin Delatycki, George R Wilmot, Christopher M Gomez,[...]. J Child Neurol 2012
Sean R Regner, Nicholas S Wilcox, Lisa S Friedman, Lauren A Seyer, Kim A Schadt, Karlla W Brigatti, Susan Perlman, Martin Delatycki, George R Wilmot, Christopher M Gomez,[...]. J Child Neurol 2012
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A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial.
David R Lynch, Steven M Willi, Robert B Wilson, M Grazia Cotticelli, Karlla W Brigatti, Eric C Deutsch, Olena Kucheruk, William Shrader, Patrice Rioux, Guy Miller,[...]. Mov Disord 2012
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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
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Psychometric properties of the Friedreich Ataxia Rating Scale.
Christian Rummey, Louise A Corben, Martin B Delatycki, S H Subramony, Khalaf Bushara, Christopher M Gomez, Joseph Chad Hoyle, Grace Yoon, Bernard Ravina, Katherine D Mathews,[...]. Neurol Genet 2019
Christian Rummey, Louise A Corben, Martin B Delatycki, S H Subramony, Khalaf Bushara, Christopher M Gomez, Joseph Chad Hoyle, Grace Yoon, Bernard Ravina, Katherine D Mathews,[...]. Neurol Genet 2019
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International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology.
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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
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Frataxin levels in peripheral tissue in Friedreich ataxia.
Michael Lazaropoulos, Yina Dong, Elisia Clark, Nathaniel R Greeley, Lauren A Seyer, Karlla W Brigatti, Carlton Christie, Susan L Perlman, George R Wilmot, Christoper M Gomez,[...]. Ann Clin Transl Neurol 2015
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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
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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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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
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Open-label pilot study of interferon gamma-1b in Friedreich ataxia.
L Seyer, N Greeley, D Foerster, C Strawser, S Gelbard, Y Dong, K Schadt, M G Cotticelli, A Brocht, J Farmer,[...]. Acta Neurol Scand 2015
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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
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Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.
David R Lynch, Jennifer M Farmer, Laura J Balcer, Robert B Wilson. Arch Neurol 2002
David R Lynch, Jennifer M Farmer, Laura J Balcer, Robert B Wilson. Arch Neurol 2002
16
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
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Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.
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
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
16
Analysis of the visual system in Friedreich ataxia.
Lauren A Seyer, Kristin Galetta, James Wilson, Reiko Sakai, Susan Perlman, Katherine Mathews, George R Wilmot, Christopher M Gomez, Bernard Ravina, Theresa Zesiewicz,[...]. J Neurol 2013
Lauren A Seyer, Kristin Galetta, James Wilson, Reiko Sakai, Susan Perlman, Katherine Mathews, George R Wilmot, Christopher M Gomez, Bernard Ravina, Theresa Zesiewicz,[...]. J Neurol 2013
31
Visual system involvement in patients with Friedreich's ataxia.
Filippo Fortuna, Piero Barboni, Rocco Liguori, Maria Lucia Valentino, Giacomo Savini, Cinzia Gellera, Caterina Mariotti, Giovanni Rizzo, Caterina Tonon, David Manners,[...]. Brain 2009
Filippo Fortuna, Piero Barboni, Rocco Liguori, Maria Lucia Valentino, Giacomo Savini, Cinzia Gellera, Caterina Mariotti, Giovanni Rizzo, Caterina Tonon, David Manners,[...]. Brain 2009
16
Double-blind, randomized and controlled trial of EPI-743 in Friedreich's ataxia.
Theresa Zesiewicz, Jason L Salemi, Susan Perlman, Kelly L Sullivan, Jessica D Shaw, Yangxin Huang, Charles Isaacs, Clifton Gooch, David R Lynch, Matthew B Klein. Neurodegener Dis Manag 2018
Theresa Zesiewicz, Jason L Salemi, Susan Perlman, Kelly L Sullivan, Jessica D Shaw, Yangxin Huang, Charles Isaacs, Clifton Gooch, David R Lynch, Matthew B Klein. Neurodegener Dis Manag 2018
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Predictors of loss of ambulation in Friedreich's ataxia.
Christian Rummey, Jennifer M Farmer, David R Lynch. EClinicalMedicine 2020
Christian Rummey, Jennifer M Farmer, David R Lynch. EClinicalMedicine 2020
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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
A Filla, G De Michele, F Cavalcanti, L Pianese, A Monticelli, G Campanella, S Cocozza. Am J Hum Genet 1996
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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
14
Comparison of three clinical rating scales in Friedreich ataxia (FRDA).
Katrin Bürk, Ulrike Mälzig, Stefanie Wolf, Suzette Heck, Konstantinos Dimitriadis, Tanja Schmitz-Hübsch, Sascha Hering, Tobias M Lindig, Verena Haug, Dagmar Timmann,[...]. Mov Disord 2009
Katrin Bürk, Ulrike Mälzig, Stefanie Wolf, Suzette Heck, Konstantinos Dimitriadis, Tanja Schmitz-Hübsch, Sascha Hering, Tobias M Lindig, Verena Haug, Dagmar Timmann,[...]. Mov Disord 2009
14
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
22
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
14
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
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
14
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
16
Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons.
Valentina D'Oria, Stefania Petrini, Lorena Travaglini, Chiara Priori, Emanuela Piermarini, Sara Petrillo, Barbara Carletti, Enrico Bertini, Fiorella Piemonte. Int J Mol Sci 2013
Valentina D'Oria, Stefania Petrini, Lorena Travaglini, Chiara Priori, Emanuela Piermarini, Sara Petrillo, Barbara Carletti, Enrico Bertini, Fiorella Piemonte. Int J Mol Sci 2013
15
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
16
GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients.
Christian Marcotulli, Silvia Fortuni, Gaetano Arcuri, Barbara Tomassini, Luca Leonardi, Francesco Pierelli, Roberto Testi, Carlo Casali. Neurol Sci 2016
Christian Marcotulli, Silvia Fortuni, Gaetano Arcuri, Barbara Tomassini, Luca Leonardi, Francesco Pierelli, Roberto Testi, Carlo Casali. Neurol Sci 2016
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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
14
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
David R Lynch, Jennifer Farmer, Lauren Hauser, Ian A Blair, Qing Qing Wang, Clementina Mesaros, Nathaniel Snyder, Sylvia Boesch, Melanie Chin, Martin B Delatycki,[...]. Ann Clin Transl Neurol 2018
David R Lynch, Jennifer Farmer, Lauren Hauser, Ian A Blair, Qing Qing Wang, Clementina Mesaros, Nathaniel Snyder, Sylvia Boesch, Melanie Chin, Martin B Delatycki,[...]. Ann Clin Transl Neurol 2018
15
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
19
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.
P Rustin, J C von Kleist-Retzow, K Chantrel-Groussard, D Sidi, A Munnich, A Rötig. Lancet 1999
P Rustin, J C von Kleist-Retzow, K Chantrel-Groussard, D Sidi, A Munnich, A Rötig. Lancet 1999
12
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
12
Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database.
Günther Metz, Nicholas Coppard, Jonathon M Cooper, Martin B Delatycki, Alexandra Dürr, Nicholas A Di Prospero, Paola Giunti, David R Lynch, J B Schulz, Christian Rummey,[...]. Brain 2013
Günther Metz, Nicholas Coppard, Jonathon M Cooper, Martin B Delatycki, Alexandra Dürr, Nicholas A Di Prospero, Paola Giunti, David R Lynch, J B Schulz, Christian Rummey,[...]. Brain 2013
20
Health related quality of life measures in Friedreich Ataxia.
Elizabeth Epstein, Jennifer M Farmer, Amy Tsou, Susan Perlman, S H Subramony, Christopher M Gomez, Tetsuo Ashizawa, George R Wilmot, Katherine Mathews, Robert B Wilson,[...]. J Neurol Sci 2008
Elizabeth Epstein, Jennifer M Farmer, Amy Tsou, Susan Perlman, S H Subramony, Christopher M Gomez, Tetsuo Ashizawa, George R Wilmot, Katherine Mathews, Robert B Wilson,[...]. J Neurol Sci 2008
21
How is disease progress in Friedreich's ataxia best measured? A study of four rating scales.
M C Fahey, L Corben, V Collins, A J Churchyard, M B Delatycki. J Neurol Neurosurg Psychiatry 2007
M C Fahey, L Corben, V Collins, A J Churchyard, M B Delatycki. J Neurol Neurosurg Psychiatry 2007
11
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.