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RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement

BACKGROUND: Although hereditary ataxias are a group of clinically and genetically heterogeneous disorders, specific clinical clues can sometimes incriminate certain genes. This can trigger genetic testing in sporadic patients or prompt dissecting certain genes more thoroughly when initial genetic te...

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Detalles Bibliográficos
Autores principales:	Van Daele, Sien H., Moisse, Matthieu, Race, Valérie, Van Eesbeeck, Amélie, Keldermans, Liesbeth, Vermeer, Sascha, Van Esch, Hilde, Claeys, Kristl G., Van Damme, Philip
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Neurogtics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9290118/ https://www.ncbi.nlm.nih.gov/pubmed/34469621 http://dx.doi.org/10.1111/ene.15091

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