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Year Number of Results
1969 1
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1988 1
1991 1
1994 3
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2002 5
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2004 8
2005 4
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2007 8
2008 5
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195 results

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Page 1
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 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 …
Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other neurological features, affect …
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 pe …
Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/compound heterozygous mutations in FXN …
Future Prospects of Gene Therapy for Friedreich's Ataxia.
Ocana-Santero G, Díaz-Nido J, Herranz-Martín S. Ocana-Santero G, et al. Int J Mol Sci. 2021 Feb 11;22(4):1815. doi: 10.3390/ijms22041815. Int J Mol Sci. 2021. PMID: 33670433 Free PMC article. Review.
Friedreich's ataxia is an autosomal recessive neurogenetic disease that is mainly associated with atrophy of the spinal cord and progressive neurodegeneration in the cerebellum. ...Currently, there is no effective treatment to delay neurodegeneration in Friedreic …
Friedreich's ataxia is an autosomal recessive neurogenetic disease that is mainly associated with atrophy of the spinal cord a …
Oxidative stress and mitochondrial dysfunction-linked neurodegenerative disorders.
Islam MT. Islam MT. Neurol Res. 2017 Jan;39(1):73-82. doi: 10.1080/01616412.2016.1251711. Epub 2016 Nov 3. Neurol Res. 2017. PMID: 27809706 Review.
Oxidative stress has been considered to be linked to the etiology of many diseases, including neurodegenerative diseases (NDDs) such as Alzheimer diseases, Amyotrophic lateral sclerosis, Friedreich's ataxia, Huntington's disease, Multiple sclerosis, and Parkinson's …
Oxidative stress has been considered to be linked to the etiology of many diseases, including neurodegenerative diseases (NDDs) such as Alzh …
Copper, Iron, and Manganese Toxicity in Neuropsychiatric Conditions.
Tarnacka B, Jopowicz A, Maślińska M. Tarnacka B, et al. Int J Mol Sci. 2021 Jul 22;22(15):7820. doi: 10.3390/ijms22157820. Int J Mol Sci. 2021. PMID: 34360586 Free PMC article. Review.
In our review, we described diseases related to these metals, such as aceruloplasminaemia, neuroferritinopathy, pantothenate kinase-associated neurodegeneration (PKAN) and other very rare classical NBIA forms, manganism, attention-deficit/hyperactivity disorder (ADHD), ephedrone …
In our review, we described diseases related to these metals, such as aceruloplasminaemia, neuroferritinopathy, pantothenate kinase-associat …
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (AR) HCA …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia t …
Mitochondrial diseases of the brain.
Chaturvedi RK, Flint Beal M. Chaturvedi RK, et al. Free Radic Biol Med. 2013 Oct;63:1-29. doi: 10.1016/j.freeradbiomed.2013.03.018. Epub 2013 Apr 6. Free Radic Biol Med. 2013. PMID: 23567191 Review.
Ample evidence underpins mitochondrial dysfunction as a central causal factor in the pathogenesis of neurodegenerative disorders including Parkinson's disease, Huntington's disease, Alzheimer's disease, Amyotrophic lateral sclerosis, Friedreich's ataxia and Charcot- …
Ample evidence underpins mitochondrial dysfunction as a central causal factor in the pathogenesis of neurodegenerative disorders including P …
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 …
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G. Plantone D, et al. Clin Drug Investig. 2021 Jun;41(6):513-527. doi: 10.1007/s40261-021-01038-1. Epub 2021 Apr 22. Clin Drug Investig. 2021. PMID: 33886098 Review.
Therapeutic riboflavin administration has been tried in other neurological diseases, including stroke, multiple sclerosis, Friedreich's ataxia and Parkinson's disease. Unfortunately, the design of these clinical trials was not uniform, not allowing to accurately ass …
Therapeutic riboflavin administration has been tried in other neurological diseases, including stroke, multiple sclerosis, Friedreich …
195 results