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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 2
1964 2
1967 1
1968 1
1969 2
1970 1
1971 1
1972 3
1973 3
1974 1
1975 2
1978 8
1980 1
1981 1
1982 3
1984 1
1985 1
1986 1
1987 4
1988 4
1989 3
1990 1
1991 1
1992 4
1993 5
1994 4
1995 3
1996 6
1997 9
1998 10
1999 21
2000 20
2001 26
2002 24
2003 25
2004 21
2005 12
2006 24
2007 23
2008 16
2009 30
2010 25
2011 18
2012 28
2013 39
2014 18
2015 12
2016 22
2017 16
2018 26
2019 24
2020 28
2021 25
2022 20
2023 20
2024 14

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608 results

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Page 1
Ataxia.
Kuo SH. Kuo SH. Continuum (Minneap Minn). 2019 Aug;25(4):1036-1054. doi: 10.1212/CON.0000000000000753. Continuum (Minneap Minn). 2019. PMID: 31356292 Free PMC article. Review.
When these molecular pathways become dysfunctional, patients develop cerebellar ataxia. In addition, several ongoing clinical trials for Friedreich ataxia and spinocerebellar ataxia will likely result in novel symptomatic and disease-modifying therapie …
When these molecular pathways become dysfunctional, patients develop cerebellar ataxia. In addition, several ongoing clinical trials …
Friedreich's ataxia: clinical features, pathogenesis and management.
Cook A, Giunti P. Cook A, et al. Br Med Bull. 2017 Dec 1;124(1):19-30. doi: 10.1093/bmb/ldx034. Br Med Bull. 2017. PMID: 29053830 Free PMC article. Review.
INTRODUCTION: Friedreich's ataxia is the most common inherited ataxia. SOURCES OF DATA: Literature search using PubMed with keywords Friedreich's ataxia together with published papers known to the authors. ...AREAS TIMELY FOR DEVELOPING RESEARCH …
INTRODUCTION: Friedreich's ataxia is the most common inherited ataxia. SOURCES OF DATA: Literature search using PubMed …
Friedreich ataxia: clinical features and new developments.
Keita M, McIntyre K, Rodden LN, Schadt K, Lynch DR. Keita M, et al. Neurodegener Dis Manag. 2022 Oct;12(5):267-283. doi: 10.2217/nmt-2022-0011. Epub 2022 Jun 29. Neurodegener Dis Manag. 2022. PMID: 35766110 Free PMC article. Review.
Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other neurological features, affects 1 in 50,000-100,000 individuals in the USA. ...Finally, new perspectives on the neuroanatomy of FRDA and its developmental features will r …
Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other neurological features, affect …
Omaveloxolone: First Approval.
Lee A. Lee A. Drugs. 2023 Jun;83(8):725-729. doi: 10.1007/s40265-023-01874-9. Drugs. 2023. PMID: 37155124 Review.
Omaveloxolone (SKYCLARYS) is an orally active, small molecule semi-synthetic triterpenoid drug that increases antioxidant activity, which is being developed by Reata Pharmaceuticals, Inc. for the treatment of Friedreich's ataxia. In patients with Friedreich's …
Omaveloxolone (SKYCLARYS) is an orally active, small molecule semi-synthetic triterpenoid drug that increases antioxidant activity, which is …
Friedreich ataxia- pathogenesis and implications for therapies.
Delatycki MB, Bidichandani SI. Delatycki MB, et al. Neurobiol Dis. 2019 Dec;132:104606. doi: 10.1016/j.nbd.2019.104606. Epub 2019 Sep 5. Neurobiol Dis. 2019. PMID: 31494282 Free article. Review.
Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/compound heterozygous mutations in FXN. ...In about 96% of affected individuals there is homozygosity for a GAA repeat expansion in intron 1 of the FXN gene. Studies of people wi …
Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/compound heterozygous mutations in FXN …
Emerging therapies in Friedreich's Ataxia.
Zesiewicz TA, Hancock J, Ghanekar SD, Kuo SH, Dohse CA, Vega J. Zesiewicz TA, et al. Expert Rev Neurother. 2020 Dec;20(12):1215-1228. doi: 10.1080/14737175.2020.1821654. Epub 2020 Sep 21. Expert Rev Neurother. 2020. PMID: 32909841 Free PMC article. Review.
INTRODUCTION: Friedreich's ataxia (FRDA) is a progressive, neurodegenerative disease that results in gait and limb ataxia, diabetes, cardiac hypertrophy, and scoliosis. ...
INTRODUCTION: Friedreich's ataxia (FRDA) is a progressive, neurodegenerative disease that results in gait and limb ataxia …
Evaluation of Cerebellar Ataxic Patients.
Radmard S, Zesiewicz TA, Kuo SH. Radmard S, et al. Neurol Clin. 2023 Feb;41(1):21-44. doi: 10.1016/j.ncl.2022.05.002. Epub 2022 Aug 31. Neurol Clin. 2023. PMID: 36400556 Free PMC article. Review.
There are many genetic causes for cerebellar ataxia, and the common autosomal dominant and recessive ataxia are due to genetic repeat expansions. ...Symptomatic and potential disease-modifying therapies may benefit patients with cerebellar ataxia....
There are many genetic causes for cerebellar ataxia, and the common autosomal dominant and recessive ataxia are due to genetic …
The inherited cerebellar ataxias: an update.
Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M. Coarelli G, et al. J Neurol. 2023 Jan;270(1):208-222. doi: 10.1007/s00415-022-11383-6. Epub 2022 Sep 24. J Neurol. 2023. PMID: 36152050 Free PMC article. Review.
We also report on key clinical points for the diagnosis of the main ICAs, including Friedreich ataxia, CANVAS, polyglutamine spinocerebellar ataxias, Fragile X-associated tremor/ataxia syndrome. ...To complicate the phenotype, cerebellar cognitive affective s …
We also report on key clinical points for the diagnosis of the main ICAs, including Friedreich ataxia, CANVAS, polyglutamine s …
Repeat expansion diseases.
Paulson H. Paulson H. Handb Clin Neurol. 2018;147:105-123. doi: 10.1016/B978-0-444-63233-3.00009-9. Handb Clin Neurol. 2018. PMID: 29325606 Free PMC article. Review.
Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dom …
Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral scle …
608 results