Browsing by Author "e8420c30-ba71-498d-bb5a-090ded203d0d"

Now showing items 1-2 of 2

    • FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile 
      Santa María, Lorena; Pugin, A.; Alliende, M. A.; Aliaga, S.; Curotto, B.; Aravena, T.; Tang, H. T.; Mendoza-Morales, G.; Hagerman, R.; Tassone, F. (Blackwell Publishing Ltd, 2014)
      © 2013 John Wiley & Sons A/S. Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, ...
    • Novel molecular and clinical aspects of FMR1 in fragile x syndrome highlighting significance of mosaicism 
      Aliaga, S.; Baker, Emma K.; Kraan, C.; Arpone, Marta; Bui, Q.; Li, X.; Ling, Ling; Francis, D.; Hunter, Matthew; Elliot, J.; Rogers, Carolyn; Field, M.; Slater, Howard R.; Bretherton, Lesley; María, L.; Faundes, Víctor; Curotto, B.; Morales, P.; Trigo, C.; Salas, I.; Alliende, Angelica M.; Amor, David J.; Godler, David E. (Wiley, 2018-08)