| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Megan J Keage, Martin B Delatycki, Isabelle Gupta, Louise A Corben, Adam P Voge. Dysphagia in Friedreich Ataxia. Dysphagia. vol 32. issue 5. 2018-12-19. PMID:28474131. |
data were correlated with disease parameters (age at symptom onset, age at assessment, disease duration, fxn intron 1 gaa repeat sizes, and friedreich ataxia rating scale (fars) score). |
2018-12-19 |
2023-08-13 |
human |
| Franca Codazzi, Amelié Hu, Myriam Rai, Simona Donatello, Floramarida Salerno Scarzella, Elisabeth Mangiameli, Ilaria Pelizzoni, Fabio Grohovaz, Massimo Pandolf. Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor. Human molecular genetics. vol 25. issue 22. 2018-02-13. PMID:28175303. |
we employed induced pluripotent stem cell (ipsc)-derived neurons obtained from friedreich ataxia (frda) patients and healthy subjects, frda neurons and ct neurons, respectively, to unveil phenotypic alterations related to frataxin (fxn) deficiency and investigate if they can be reversed by treatments that upregulate fxn. |
2018-02-13 |
2023-08-13 |
human |
| Louise A Corben, Felicity Klopper, Monique Stagnitti, Nellie Georgiou-Karistianis, John L Bradshaw, Gary Rance, Martin B Delatyck. Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia. Cerebellum (London, England). vol 16. issue 4. 2018-01-29. PMID:28229372. |
these deficits did not correlate with clinical characteristics of frda (age of disease onset, disease duration, number of guanine-adenine-adenine repeats on the shorter or larger fxn allele, or friedreich ataxia rating scale score), suggesting that such impairment may not be related to the disease process in a straightforward way. |
2018-01-29 |
2023-08-13 |
human |
| Ashley McCormick, Julianna Shinnick, Kim Schadt, Rose Rodriguez, Linda Addonizio, Michio Hirano, Susan Perlman, Kimberly Y Lin, David R Lync. Cardiac transplantation in Friedreich Ataxia: Extended follow-up. Journal of the neurological sciences. vol 375. 2017-07-05. PMID:28109580. |
friedreich ataxia (frda) is an autosomal recessive neurodegenerative disorder most commonly caused by guanine-adenine-adenine (gaa) trinucleotide repeat expansions in both alleles of the fxn gene. |
2017-07-05 |
2023-08-13 |
Not clear |
| Arnulf H Koeppen, R Liane Ramirez, Alyssa B Becker, Joseph E Mazurkiewic. Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation. Acta neuropathologica communications. vol 4. issue 1. 2017-06-21. PMID:27142428. |
dorsal root ganglia (drg) are highly vulnerable to frataxin deficiency in friedreich ataxia (fa), an autosomal recessive disease due to pathogenic homozygous guanine-adenine-adenine trinucleotide repeat expansions in intron 1 of the fxn gene (chromosome 9q21.11). |
2017-06-21 |
2023-08-13 |
Not clear |
| Yogesh K Chutake, Christina C Lam, Whitney N Costello, Michael P Anderson, Sanjay I Bidichandan. Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor. Nucleic acids research. vol 44. issue 11. 2017-05-26. PMID:26896803. |
friedreich ataxia, the most prevalent inherited ataxia, is caused by an expanded gaa triplet-repeat sequence in intron 1 of the fxn gene. |
2017-05-26 |
2023-08-13 |
Not clear |
| 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, Francoise Pousset, Michael Parkinson, Robyn Labrum, Paola Giunti, Susan L Perlman, Martin B Delatycki, Marguerite V Evans-Gale. Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. Annals of neurology. vol 79. issue 3. 2016-07-19. PMID:26704351. |
compound heterozygous fxn mutations and clinical outcome in friedreich ataxia. |
2016-07-19 |
2023-08-13 |
Not clear |
| Srinivasan Muthuswamy, Sarita Agarwa. Friedreich Ataxia: From the Eye of a Molecular Biologist. The neurologist. vol 20. issue 3. 2016-06-13. PMID:26375377. |
friedreich ataxia (frda) is caused by the expansion of a gaa triplet repeat in the first intron of the fxn gene. |
2016-06-13 |
2023-08-13 |
Not clear |
| Yogesh K Chutake, Whitney N Costello, Christina C Lam, Aniruddha C Parikh, Tamara T Hughes, Michael G Michalopulos, Mark A Pook, Sanjay I Bidichandan. FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia. PloS one. vol 10. issue 9. 2016-06-03. PMID:26393353. |
fxn promoter silencing in the humanized mouse model of friedreich ataxia. |
2016-06-03 |
2023-08-13 |
mouse |
| Yogesh K Chutake, Whitney N Costello, Christina C Lam, Aniruddha C Parikh, Tamara T Hughes, Michael G Michalopulos, Mark A Pook, Sanjay I Bidichandan. FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia. PloS one. vol 10. issue 9. 2016-06-03. PMID:26393353. |
friedreich ataxia is caused by an expanded gaa triplet-repeat sequence in intron 1 of the fxn gene that results in epigenetic silencing of the fxn promoter. |
2016-06-03 |
2023-08-13 |
mouse |
| Elena Caron, Dennis Burns, Diana Castro, Susan T Iannaccon. Atypical Presentation for Friedreich Ataxia in a Child. Journal of clinical neuromuscular disease. vol 17. issue 1. 2016-05-23. PMID:26301374. |
missense mutations are rare causes of friedreich ataxia that can only be detected by sequencing of the fxn gene. |
2016-05-23 |
2023-08-13 |
Not clear |
| Alain Martelli, Stéphane Schmucker, Laurence Reutenauer, Jacques R R Mathieu, Carole Peyssonnaux, Zoubida Karim, Hervé Puy, Bruno Galy, Matthias W Hentze, Hélène Pucci. Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency. Cell metabolism. vol 21. issue 2. 2016-03-21. PMID:25651183. |
mitochondrial iron accumulation is a hallmark of diseases associated with impaired iron-sulfur cluster (fe-s) biogenesis, such as friedreich ataxia linked to frataxin (fxn) deficiency. |
2016-03-21 |
2023-08-13 |
mouse |
| Sara Anjomani Virmouni, Sahar Al-Mahdawi, Chiranjeevi Sandi, Hemad Yasaei, Paola Giunti, Predrag Slijepcevic, Mark A Poo. Identification of telomere dysfunction in Friedreich ataxia. Molecular neurodegeneration. vol 10. 2016-03-21. PMID:26059974. |
friedreich ataxia (frda) is a progressive inherited neurodegenerative disorder caused by mutation of the fxn gene, resulting in decreased frataxin expression, mitochondrial dysfunction and oxidative stress. |
2016-03-21 |
2023-08-13 |
Not clear |
| 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, Gary Rance, Sarah E M Stephenson, Joseph P Sarsero, Creina Stockley, Chung-Yung J Lee, Andrew Churchyard, Marguerite V Evans-Galea, Monique M Ryan, Paul J Lockhart, Louise A Corben, Martin B Delatyck. An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. Journal of neurology. vol 262. issue 5. 2016-03-14. PMID:25845763. |
friedreich ataxia (frda) is due to a triplet repeat expansion in fxn, resulting in deficiency of the mitochondrial protein frataxin. |
2016-03-14 |
2023-08-13 |
mouse |
| Mohammed Filali, Robert Lalonde, Catherine Gérard, Zoé Coulombe, Jacques P Trembla. Sensorimotor skills in Fxn KO/Mck mutants deficient for frataxin in muscle. Brain research. vol 1608. 2015-12-24. PMID:25765157. |
the fxn ko/mck model reproduces some key features of patients with friedreich ataxia and provides an opportunity of ameliorating their symptoms with experimental therapies. |
2015-12-24 |
2023-08-13 |
mouse |
| Sara Anjomani Virmouni, Chiranjeevi Sandi, Sahar Al-Mahdawi, Mark A Poo. Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia. PloS one. vol 9. issue 9. 2015-12-16. PMID:25198290. |
friedreich ataxia (frda) is an autosomal recessive neurodegenerative disorder, caused by a gaa repeat expansion mutation within intron 1 of the fxn gene. |
2015-12-16 |
2023-08-13 |
mouse |
| Emil Ygland, Franco Taroni, Cinzia Gellera, Serena Caldarazzo, Morten Duno, Maria Soller, Andreas Puschman. Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. Parkinsonism & related disorders. vol 20. issue 8. 2015-10-16. PMID:24816001. |
atypical friedreich ataxia in patients with fxn p.r165p point mutation or comorbid hemochromatosis. |
2015-10-16 |
2023-08-13 |
Not clear |
| Emil Ygland, Franco Taroni, Cinzia Gellera, Serena Caldarazzo, Morten Duno, Maria Soller, Andreas Puschman. Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. Parkinsonism & related disorders. vol 20. issue 8. 2015-10-16. PMID:24816001. |
compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the fxn gene is a rare cause of friedreich ataxia (frda). |
2015-10-16 |
2023-08-13 |
Not clear |
| Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Poo. MutLα heterodimers modify the molecular phenotype of Friedreich ataxia. PloS one. vol 9. issue 6. 2015-10-02. PMID:24971578. |
friedreich ataxia (frda), the most common autosomal recessive ataxia disorder, is caused by a dynamic gaa repeat expansion mutation within intron 1 of fxn gene, resulting in down-regulation of frataxin expression. |
2015-10-02 |
2023-08-13 |
mouse |
| Yee-Ki Lee, Philip Wing-Lok Ho, Revital Schick, Yee-Man Lau, Wing-Hon Lai, Ting Zhou, Yanhua Li, Kwong-Man Ng, Shu-Leung Ho, Miguel Angel Esteban, Ofer Binah, Hung-Fat Tse, Chung-Wah Si. Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells. Pflugers Archiv : European journal of physiology. vol 466. issue 9. 2015-09-30. PMID:24327207. |
friedreich ataxia (frda), a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy, is due to gaa repeat expansions within the first intron of the frataxin (fxn) gene encoding the mitochondrial protein involved in iron-sulfur cluster biosynthesis. |
2015-09-30 |
2023-08-12 |
Not clear |