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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Publicat a:Acta Neuropathol Commun
Autors principals: Paudel, R., Li, A., Wiethoff, S., Bandopadhyay, R., Bhatia, K., de Silva, R., Houlden, H., Holton, J. L.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Research
Accés en línia: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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