Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy

INTRODUCTION: Beta-propeller protein associated neurodegeneration (BPAN) is associated with mutations in the WD repeat domain 45 (WDR45) gene on chromosome Xp11 resulting in reduced autophagic flux. This study describes the clinical and neuropathological features of a female 51 year old BPAN case. T...

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Detalhes bibliográficos
Publicado no:Acta Neuropathol Commun
Main Authors: Paudel, R., Li, A., Wiethoff, S., Bandopadhyay, R., Bhatia, K., de Silva, R., Houlden, H., Holton, J. L.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4486689/
https://ncbi.nlm.nih.gov/pubmed/26123052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-015-0221-3
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