12 results on '"Sopher, Bryce L."'
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2. Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity
3. Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology
4. Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients
5. Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy
6. PPAR-δ is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically
7. Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA
8. Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport
9. The Purkinje cell degeneration 5J mutation is a single amino acid insertion that destabilizes Nna1 protein
10. Increased vulnerability of hippocampal neurons to excitotoxic necrosis in presenilin-1 mutant knock-in mice
11. The Werner syndrome protein is a DNA helicase
12. Neurodegenerative mechanisms in alzheimer disease
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