Trinucleotide Repeat Expansion
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Subject Areas on Research
- Altered diffusion tensor imaging measurements in aged transgenic Huntington disease rats.
- An interdomain interaction of the androgen receptor is required for its aggregation and toxicity in spinal and bulbar muscular atrophy.
- Analysis of the mouse transcriptome for genes involved in the function of the nervous system.
- Arithmetic difficulties in females with the fragile X premutation.
- CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome.
- Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines.
- Expanded polyglutamine stretches form an 'aggresome'.
- Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.
- Loss of Fhit expression in non-small-cell lung cancer: correlation with molecular genetic abnormalities and clinicopathological features.
- Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.
- Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009).
- Pathogenesis of inclusion bodies in (CAG)n/Qn-expansion diseases with special reference to the role of tissue transglutaminase and to selective vulnerability.
- Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms.
- The FMR1 premutation and reproduction.
- Therapy development in Huntington disease: From current strategies to emerging opportunities.
- X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity.