A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration

ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is a human neurological disorder characterized by progressive cerebellar ataxia and peripheral neuropathy. A recently recognized disorder in Great Pyrenees dogs is similarly characterized by widespread central nervous system degenera...

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Detalles Bibliográficos
Autores principales: Ekenstedt, Kari J., Minor, Katie M., Shelton, G. Diane, Hammond, James J., Miller, Andrew D., Taylor, Susan M., Huang, Yanyun, Mickelson, James R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602964/
https://www.ncbi.nlm.nih.gov/pubmed/37758910
http://dx.doi.org/10.1007/s00439-023-02599-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602964/
https://www.ncbi.nlm.nih.gov/pubmed/37758910
http://dx.doi.org/10.1007/s00439-023-02599-1

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