A R La Spada
Affiliation: University of Washington
- Trinucleotide repeat instability: genetic features and molecular mechanismsA R La Spada
Department of Laboratory Medicine and Pharmacology, University of Washington Medical Center, Seattle 98195, USA
Brain Pathol 7:943-63. 1997..There are many reasons to suspect that this uniquely human phenomenon will significantly impact upon our understanding of development, differentiation and neurobiology...
- Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instabilityA R La Spada
Department of Pharmacology, University of Washington, Seattle, WA 98195, USA
Hum Mol Genet 7:959-67. 1998....
- Insights into the molecular basis of polyglutamine neurodegeneration from studies of a spinocerebellar ataxia type 7 mouse modelS K Grote
Department of Laboratory Medicine, University of Washington Medical Center, Seattle, WA 98195 7110, USA
Cytogenet Genome Res 100:164-74. 2003....
- Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7A R La Spada
Department of Laboratory Medicine, University of Washington Medical Center, Seattle, WA 98195, USA
Neuron 31:913-27. 2001..Our results suggest that CRX transcription interference accounts for the retinal degeneration in SCA7 and thus may provide an explanation for how cell-type specificity is achieved in this polyglutamine repeat disease...
- Genomic organization, chromosome location, and expression analysis of mouse beta-synuclein, a candidate for involvement in neurodegenerationB L Sopher
Department of Laboratory Medicine, University of Washington Medical Center, Room NW 120, Seattle, WA 98995 7110, USA
Cytogenet Cell Genet 93:117-23. 2001..Knowledge of the genomic organization and expression pattern of Sncb will allow functional studies of its potential role in neurodegeneration to commence in the mouse...
- Beta-synuclein gene alterations in dementia with Lewy bodiesH Ohtake
Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan
Neurology 63:805-11. 2004..To determine whether mutations in the genes for alpha-synuclein or beta-synuclein are responsible for dementia with Lewy bodies (DLB), a disorder closely related to Parkinson disease (PD)...
- Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairmentsU Rüb
Institute for Clinical Neuroanatomy, J W Goethe University, Frankfurt Main, Germany
Neuropathol Appl Neurobiol 34:155-68. 2008....