Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions

INTRODUCTION: Early onset isolated dystonia (DYT1) is linked to a three base pair deletion (ΔGAG) mutation in the TOR1A gene. Clinical manifestation includes intermittent muscle contraction leading to twisting movements or abnormal postures. Neuropathological studies on DYT1 cases are limited, most...

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Detalles Bibliográficos
Autores principales: Paudel, Reema, Kiely, Aoife, Li, Abi, Lashley, Tammaryn, Bandopadhyay, Rina, Hardy, John, Jinnah, Hyder A, Bhatia, Kailash, Houlden, Henry, Holton, Janice L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247124/
https://www.ncbi.nlm.nih.gov/pubmed/25403864
http://dx.doi.org/10.1186/s40478-014-0159-x

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