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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Bibliografski detalji
Izdano u:Acta Neuropathol Commun
Glavni autori: Paudel, Reema, Kiely, Aoife, Li, Abi, Lashley, Tammaryn, Bandopadhyay, Rina, Hardy, John, Jinnah, Hyder A, Bhatia, Kailash, Houlden, Henry, Holton, Janice L
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2014
Teme:
Research
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4247124/
https://ncbi.nlm.nih.gov/pubmed/25403864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-014-0159-x
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