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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Detalles Bibliográficos
Autores principales: Paudel, R., Li, A., Wiethoff, S., Bandopadhyay, R., Bhatia, K., de Silva, R., Houlden, H., Holton, J. L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486689/
https://www.ncbi.nlm.nih.gov/pubmed/26123052
http://dx.doi.org/10.1186/s40478-015-0221-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486689/
https://www.ncbi.nlm.nih.gov/pubmed/26123052
http://dx.doi.org/10.1186/s40478-015-0221-3

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