‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion in intron 1 of NOP56. Family interview and document research allowed us to reconstruct two extensive, multigenerationa...

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Detalles Bibliográficos
Autores principales: García-Murias, María, Quintáns, Beatriz, Arias, Manuel, Seixas, Ana I., Cacheiro, Pilar, Tarrío, Rosa, Pardo, Julio, Millán, María J., Arias-Rivas, Susana, Blanco-Arias, Patricia, Dapena, Dolores, Moreira, Ramón, Rodríguez-Trelles, Francisco, Sequeiros, Jorge, Carracedo, Ángel, Silveira, Isabel, Sobrido, María J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338928/
https://www.ncbi.nlm.nih.gov/pubmed/22492559
http://dx.doi.org/10.1093/brain/aws069

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