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Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population
Spinocerebellar ataxias form a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive cerebellar ataxia. Their prevalence varies among populations and ethnicities. Spinocerebellar ataxia 36 is caused by a GGCCTG repeat expansion in the first intron...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10558097/ https://www.ncbi.nlm.nih.gov/pubmed/37810464 http://dx.doi.org/10.1093/braincomms/fcad244 |