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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Pubblicato in:Acta Neuropathol Commun
Autori principali: Paudel, R., Li, A., Wiethoff, S., Bandopadhyay, R., Bhatia, K., de Silva, R., Houlden, H., Holton, J. L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
Soggetti:
Research
Accesso online: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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