Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2004 2
2005 5
2006 6
2007 9
2008 8
2009 3
2010 4
2011 10
2012 13
2013 9
2014 8
2015 12
2016 17
2017 6
2018 2
2019 3
2020 13
2021 11
2022 8
2023 6
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

131 results

Results by year

Filters applied: . Clear all
Page 1
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.
The challenge of NGS analysis is the identification of causative variant, trio analysis being usually the most appropriate option. Public genomic databases as well as pathogenicity prediction software facilitate the interpretation of NGS results. We also report on key clin …
The challenge of NGS analysis is the identification of causative variant, trio analysis being usually the most appropriate option. Public ge …
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). ...In this review, we examine the current use of mouse models to study PM and FXT …
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder tha …
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.
Hagerman P. Hagerman P. Acta Neuropathol. 2013 Jul;126(1):1-19. doi: 10.1007/s00401-013-1138-1. Epub 2013 Jun 21. Acta Neuropathol. 2013. PMID: 23793382 Free PMC article. Review.
Since its discovery in 2001, our understanding of fragile X-associated tremor/ataxia syndrome (FXTAS) has undergone a remarkable transformation. ...Furthermore, the intranuclear inclusions of FXTAS, once thought to be a CNS-specific marke …
Since its discovery in 2001, our understanding of fragile X-associated tremor/ataxia syndrome (FXT …
Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS).
Santos E, Clark C, Biag HMB, Tang SJ, Kim K, Ponzini MD, Schneider A, Giulivi C, Montanaro FAM, Gipe JT, Dayton J, Randol JL, Yao PJ, Manolopoulos A, Kapogiannis D, Hwang YH, Hagerman P, Hagerman R, Tassone F. Santos E, et al. Cells. 2023 Dec 5;12(24):2773. doi: 10.3390/cells12242773. Cells. 2023. PMID: 38132093 Free PMC article.
Fragile X (FMR1) premutation is a common mutation that affects about 1 in 200 females and 1 in 450 males and can lead to the development of fragile-X-associated tremor/ataxia syndrome (FXTAS). Although there is no targeted, proven treatme …
Fragile X (FMR1) premutation is a common mutation that affects about 1 in 200 females and 1 in 450 males and can lead to the development of …
Fragile X-associated tremor/ataxia syndrome and movements disorders.
Baba Y, Uitti RJ. Baba Y, et al. Curr Opin Neurol. 2005 Aug;18(4):393-8. doi: 10.1097/01.wco.0000168332.99305.50. Curr Opin Neurol. 2005. PMID: 16003114 Review.
PURPOSE OF REVIEW: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a multiple-system neurologic disorder caused by expansion of 55-200 CGG repeats in the FMR1 (fragile site mental retardation 1) gene. ...The purpose of this review …
PURPOSE OF REVIEW: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a multiple-system neurol …
The fragile X-associated tremor ataxia syndrome.
Tassone F, Hagerman R. Tassone F, et al. Results Probl Cell Differ. 2012;54:337-57. doi: 10.1007/978-3-642-21649-7_18. Results Probl Cell Differ. 2012. PMID: 22009361
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder clinically characterized by intention tremor and gait ataxia, in addition to other conditions including hypothyroidism, autonomic dysfunction …
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder c …
Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations.
Perez-Lloret S, van de Warrenburg B, Rossi M, Rodríguez-Blázquez C, Zesiewicz T, Saute JAM, Durr A, Nishizawa M, Martinez-Martin P, Stebbins GT, Schrag A, Skorvanek M; members of the MDS Rating Scales Review Committee. Perez-Lloret S, et al. Mov Disord. 2021 Feb;36(2):283-297. doi: 10.1002/mds.28313. Epub 2020 Oct 6. Mov Disord. 2021. PMID: 33022077
"Recommended" rating scales for the assessment of symptoms severity were: for Friedreich's ataxia, the Friedreich's Ataxia Rating Scale, the International Cooperative Ataxia Rating Scale (ICARS), and the Scale for the Assessment and Rating of Ataxia (SARA); for spinocerebellar at …
"Recommended" rating scales for the assessment of symptoms severity were: for Friedreich's ataxia, the Friedreich's Ataxia Rating Scale, the …
Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited.
Niu YQ, Yang JC, Hall DA, Leehey MA, Tassone F, Olichney JM, Hagerman RJ, Zhang L. Niu YQ, et al. Parkinsonism Relat Disord. 2014 Apr;20(4):456-9. doi: 10.1016/j.parkreldis.2014.01.006. Epub 2014 Jan 18. Parkinsonism Relat Disord. 2014. PMID: 24491663 Free PMC article.
BACKGROUND: Parkinsonian features have been used as a minor diagnostic criterion for fragile X-associated tremor/ataxia syndrome (FXTAS). However, prior studies have examined parkinsonism (defined as having bradykinesia with at least rest …
BACKGROUND: Parkinsonian features have been used as a minor diagnostic criterion for fragile X-associated tremor …
Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications.
Aishworiya R, Protic D, Hagerman R. Aishworiya R, et al. J Neurol. 2022 Sep;269(9):4676-4683. doi: 10.1007/s00415-022-11209-5. Epub 2022 Jun 20. J Neurol. 2022. PMID: 35723724 Review.
The Fragile X premutation state (characterized by the presence of 55-200 CGG repeats in the FMR1 gene) is a relatively newly identified disease state that has since been associated with several disorders including fragile X-associated tremor ataxia …
The Fragile X premutation state (characterized by the presence of 55-200 CGG repeats in the FMR1 gene) is a relatively newly identified dise …
Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial.
Seritan AL, Nguyen DV, Mu Y, Tassone F, Bourgeois JA, Schneider A, Cogswell JB, Cook KR, Leehey MA, Grigsby J, Olichney JM, Adams PE, Legg W, Zhang L, Hagerman PJ, Hagerman RJ. Seritan AL, et al. J Clin Psychiatry. 2014 Mar;75(3):264-71. doi: 10.4088/JCP.13m08546. J Clin Psychiatry. 2014. PMID: 24345444 Free PMC article. Clinical Trial.
Anecdotal reports have suggested that memantine may improve neurologic and cognitive symptoms of individuals with the neurodegenerative disease fragile X-associated tremor/ataxia syndrome (FXTAS); however, its efficacy and safety in this …
Anecdotal reports have suggested that memantine may improve neurologic and cognitive symptoms of individuals with the neurodegenerative dise …
131 results