Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat

BACKGROUND: Niemann-Pick Type C disease (NPC), is an autosomal recessive neurovisceral disorder of lipid metabolism. One characteristic feature of NPC is a vertical supranuclear gaze palsy particularly affecting saccades. However, horizontal saccades are also impaired and as a consequence a paramete...

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Detalles Bibliográficos
Autores principales: Abel, Larry A., Walterfang, Mark, Stainer, Matthew J., Bowman, Elizabeth A., Velakoulis, Dennis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4687063/
https://www.ncbi.nlm.nih.gov/pubmed/26691656
http://dx.doi.org/10.1186/s13023-015-0377-8

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