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Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.
Cabal-Herrera AM, Tassanakijpanich N, Salcedo-Arellano MJ, Hagerman RJ. Cabal-Herrera AM, et al. Int J Mol Sci. 2020 Jun 20;21(12):4391. doi: 10.3390/ijms21124391. Int J Mol Sci. 2020. PMID: 32575683 Free PMC article. Review.
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in older premutation (55-200 CGG repeats) carriers of FMR1. ...
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in ol …
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. Rarer forms should not be neglected because …
We also report on key clinical points for the diagnosis of the main ICAs, including Friedreich ataxia, CANVAS, polyglutamine spinocerebellar …
Fragile X-associated tremor/ataxia syndrome.
Hoem G, Koht J. Hoem G, et al. Tidsskr Nor Laegeforen. 2017 Oct 30;137(20). doi: 10.4045/tidsskr.17.0317. Print 2017 Oct 31. Tidsskr Nor Laegeforen. 2017. PMID: 29094559 Free article. Review. English, Norwegian.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X chromosome. ...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder cau …
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. Tassone F, et al. Cells. 2023 Sep 21;12(18):2330. doi: 10.3390/cells12182330. Cells. 2023. PMID: 37759552 Free PMC article. Review.
Any of the problems associated with the premutation can appropriately be called FXPAC. Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiat …
Any of the problems associated with the premutation can appropriately be called FXPAC. Fragile X-associated tremor …
Fragile X-associated tremor/ataxia syndrome.
Hagerman PJ, Hagerman RJ. Hagerman PJ, et al. Ann N Y Acad Sci. 2015 Mar;1338(1):58-70. doi: 10.1111/nyas.12693. Epub 2015 Jan 26. Ann N Y Acad Sci. 2015. PMID: 25622649 Free PMC article. Review.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some but not all carriers of small, noncoding CGG-repeat expansions (55-200 repeats; premutation) within the fragile X gene (FMR1) …
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder tha …
Fragile X-associated tremor/ataxia syndrome.
Leehey MA, Hagerman PJ. Leehey MA, et al. Handb Clin Neurol. 2012;103:373-86. doi: 10.1016/B978-0-444-51892-7.00023-1. Handb Clin Neurol. 2012. PMID: 21827901 Review.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an under-recognized disorder that is a significant cause of late-adult-onset ataxia. ...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an under-recognized disorder that is a sign …
Fragile X-associated tremor/ataxia syndrome: pathophysiology and management.
Hagerman R, Hagerman P. Hagerman R, et al. Curr Opin Neurol. 2021 Aug 1;34(4):541-546. doi: 10.1097/WCO.0000000000000954. Curr Opin Neurol. 2021. PMID: 33990099 Free PMC article. Review.
PURPOSE OF REVIEW: The purpose of this paper is to review the prevalence, pathophysiology, and management of fragile X-associated tremor/ataxia syndrome (FXTAS). RECENT FINDINGS: The pathophysiology of FXTAS involves ribonucleic acid (RNA …
PURPOSE OF REVIEW: The purpose of this paper is to review the prevalence, pathophysiology, and management of fragile X-asso …
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.
Hagerman RJ, Hagerman P. Hagerman RJ, et al. Nat Rev Neurol. 2016 Jul;12(7):403-12. doi: 10.1038/nrneurol.2016.82. Epub 2016 Jun 24. Nat Rev Neurol. 2016. PMID: 27340021 Review.
Many physicians are unaware of the many phenotypes associated with the fragile X premutation, an expansion in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene that consists of 55-200 CGG repeats. The most severe of these phenotypes is fragile …
Many physicians are unaware of the many phenotypes associated with the fragile X premutation, an expansion in the 5' untranslated region of …
Recent research in fragile X-associated tremor/ataxia syndrome.
Salcedo-Arellano MJ, Hagerman RJ. Salcedo-Arellano MJ, et al. Curr Opin Neurobiol. 2022 Feb;72:155-159. doi: 10.1016/j.conb.2021.11.006. Epub 2021 Dec 7. Curr Opin Neurobiol. 2022. PMID: 34890957 Review.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cytosine-guanine-guanine repeat expansion neurological disease that occurs in a subset of aging carriers of the premutation (55-200 cytosine-guanine-guanine repeats) in the FMR1 gen …
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cytosine-guanine-guanine repeat expansion …
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice.
Foote M, Arque G, Berman RF, Santos M. Foote M, et al. Cerebellum. 2016 Oct;15(5):611-22. doi: 10.1007/s12311-016-0797-6. Cerebellum. 2016. PMID: 27255703 Free PMC article. Review.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some carriers of the fragile X premutation (PM). ...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder tha …
133 results