Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

Sporadic late onset cerebellar ataxia is a well-described clinical presentation with a broad differential diagnosis that adult neurologists should be familiar with. However, despite extensive clinical investigations, an acquired cause is identified in only a minority of cases. Thereafter, an underly...

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Detalles Bibliográficos
Autores principales: Keogh, M. J., Steele, H., Douroudis, K., Pyle, A., Duff, J., Hussain, R., Smertenko, T., Griffin, H., Santibanez-Koref, M., Horvath, R., Chinnery, P. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4539354/
https://www.ncbi.nlm.nih.gov/pubmed/25976027
http://dx.doi.org/10.1007/s00415-015-7772-x

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