Results 1 to 10 of about 2,807 (196)

FXTAS presents with upregulation of the cytokines IL12 and TNFα [PDF]

open access: yesParkinsonism and Related Disorders, 2021
Fragile X Tremor and Ataxia Syndrome is a progressive neurodegenerative disorder that develops in some FMR1 premutation carriers. The objective of this study is to characterize how cytokine levels are altered in the FXTAS brain.Fresh frozen cerebellar tissue from FXTAS cases and controls was homogenized and analyzed for 12 different cytokines using a ...
Brett D Dufour   +1 more
exaly   +7 more sources

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective

open access: yesJournal of Clinical Medicine, 2022
Although larger trinucleotide expansions give rise to a neurodevelopmental disorder called fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a “premutation” (55&ndash ...
Daniele Orsucci   +2 more
exaly   +2 more sources

Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS [PDF]

open access: yesInternational Journal of Molecular Sciences, 2023
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder associated with the FMR1 premutation. Currently, it is not possible to determine when and if individual premutation carriers will develop FXTAS.
Marwa Zafarullah   +2 more
exaly   +2 more sources

The emerging molecular mechanisms for mitochondrial dysfunctions in FXTAS

open access: yesBiochimica Et Biophysica Acta - Molecular Basis of Disease, 2020
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder caused by an expansion of 55-200 CGG repeats at 5UTR of FMR1 gene, known as premutation. The main clinical and neuropathological features of FXTAS include progressive intention tremor, gait ataxia, neuronal cell loss and presence of ubiquitin-positive ...
Dhruv Gohel   +2 more
exaly   +3 more sources
Some of the next articles are maybe not open access.

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

International Journal of Molecular Sciences, 2020
Ana Maria Cabal-Herrera   +2 more
exaly  

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