Beta-propeller protein-associated neurodegeneration: A clinical update with a case report
- PMID: 37396670
- PMCID: PMC10311142
- DOI: 10.1016/j.ensci.2023.100469
Beta-propeller protein-associated neurodegeneration: A clinical update with a case report
Abstract
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© 2023 The Authors.
Conflict of interest statement
None declared.
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References
-
- Haack T.B., Hogarth P., Gregory A., Prokisch H., Hayflick S.J. BPAN: the only X-linked dominant NBIA disorder. Int Rev Neurobiol. 2013;110:85–90. - PubMed
-
- Hayflick S.J., Kruer M.C., Gregory A., Haack T.B., Kurian M.A., Houlden H.H., Anderson J., Boddaert N., Sanford L., Harik S.I., Dandu V.H., Nardocci N., Zorzi G., Dunaway T., Tarnopolsky M., Skinner S., Holden K.R., Frucht S., Hanspal E., Schrander-Stumpel C., Mignot C., Héron D., Saunders D.E., Kaminska M., Lin J.P., Lascelles K., Cuno S.M., Meyer E., Garavaglia B., Bhatia K., de Silva R., Crisp S., Lunt P., Carey M., Hardy J., Meitinger T., Prokisch H., Hogarth P. β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain. 2013;136(Pt 6):1708–1717. - PMC - PubMed
-
- Schneider S.A. Neurodegeneration with brain Iron accumulation. Curr Neurol Neurosci Rep. 2016;16(1):9. - PubMed
-
- Di Meo I., Tiranti V. Classification and molecular pathogenesis of NBIA syndromes. Eur J Paediatr Neurol. 2018;22(2):272–284. - PubMed
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