Article
New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS).
Neurogenetics - 1 May 2011
Juncos Jorge L, Lazarus Joash T, Graves-Allen Emily, Shubeck Lisa, Rusin Michelle, Novak Gloria, Hamilton Deborah, Rohr Julia, Sherman Stephanie L
Abstract excerpt
The objective of this paper was to assess the phenotypic variance in patients with the Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and to further elucidate genotype-phenotype correlations in the illness. A second goal was to generate hypotheses regarding symptom progression based on careful histories in our sample that can now be tested in ongoing longitudinal studies. The variability of clinical signs...
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