Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
By S. Jacquemont, R. Hagerman, Maureen A. Leehey, J. Grigsby, Lin Zhang, J. Brunberg, C. Greco, V. des Portes, Tristan Jardini, Richard A. Levine and 6 more. American Journal of Human Genetics, 2003
764 citations recorded by the source corpus.
Subfields: Cell Biology, Genetics, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/727770193981aff8adf67bb54ea891e013a9bf06
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Citations in the corpus
- Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles (2005, background): “One of these is fragile X tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder that affects older male premutation carrier”
- Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. (2004, methodology): “The MCP finding thus potentially serves as a major diagnostic feature of FXTAS.16 The most striking neuropathological feature associated with FXTAS, present in all 8 brains examined to date from patients who died with this disorder, is the presence of eosinophilic, intranuclear inclusions in both ne”