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- Bourgeois JA 2
- Hagerman R 2
- Biag HMB 1
- Casanova EL 1
- Gane L 1
- Hagerman P 1
- Hagerman PJ 1
- Buchanan CB 1
- Hagerman RJ 1
- Adams PE 1
2025
Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder associated with the FMR1 gene premutation, characterized by the presence of 55 to 200 CGG triplet repeat expansions. Although the initial sympto…
2022
BackgroundWhile an association between full mutation CGG-repeat expansions of the Fragile X Mental Retardation 1 (FMR1) gene and connective tissue problems are clearly described, problems in fragile X premutation carriers (fXPCs) CGG-repeat…
2010
We present four cases of fragile X premutation carriers with early neurological symptoms, including symptoms consistent with multiple sclerosis (MS) and fragile X-associated tremor/ataxia syndrome (FXTAS). Each patient had significant expos…