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2004 3
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204 results

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Page 1
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 Syndrome: Introduction.
Reches A. Reches A. Methods Mol Biol. 2019;1942:3-10. doi: 10.1007/978-1-4939-9080-1_1. Methods Mol Biol. 2019. PMID: 30900171
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: 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 …
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Spector E, Behlmann A, Kronquist K, Rose NC, Lyon E, Reddi HV; ACMG Laboratory Quality Assurance Committee. Spector E, et al. Genet Med. 2021 May;23(5):799-812. doi: 10.1038/s41436-021-01115-y. Epub 2021 Apr 1. Genet Med. 2021. PMID: 33795824 Free article.
Pathogenic variants in the FMR1 gene are associated with fragile X syndrome, fragile X-associated tremor ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). ...
Pathogenic variants in the FMR1 gene are associated with fragile X syndrome, fragile X-associated tremor atax …
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 …
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
Biancalana V, Glaeser D, McQuaid S, Steinbach P. Biancalana V, et al. Eur J Hum Genet. 2015 Apr;23(4):417-25. doi: 10.1038/ejhg.2014.185. Epub 2014 Sep 17. Eur J Hum Genet. 2015. PMID: 25227148 Free PMC article.
One is fragile X-associated primary ovarian insufficiency (FXPOI), which is characterized by a large spectrum of ovarian dysfunction phenotypes and possible early menopause as the end stage. The other is fragile X-associated tremor/ataxia syn …
One is fragile X-associated primary ovarian insufficiency (FXPOI), which is characterized by a large spectrum of ovarian dysfunction phenoty …
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 …
Parkinsonism and tremor syndromes.
Bellows S, Jankovic J. Bellows S, et al. J Neurol Sci. 2022 Feb 15;433:120018. doi: 10.1016/j.jns.2021.120018. Epub 2021 Oct 1. J Neurol Sci. 2022. PMID: 34686357 Review.
In addition, tremor can be a prominent feature in patients with other movement disorders such as fragile X-associated tremor/ataxia syndrome, and Wilson's disease in which parkinsonian features may be present. ...
In addition, tremor can be a prominent feature in patients with other movement disorders such as fragile X-associated …
204 results