Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy

I. Kapás, M. Katkó, M. Harangi, G. Paragh, I. Balogh, Z. Kóczi, G. Regelsberger, M. J. Molnár, G. G. Kovacs

Research output: Contribution to journalArticle

8 Citations (Scopus)
Original languageEnglish
Pages (from-to)345-350
Number of pages6
JournalNeuropathology and Applied Neurobiology
Volume40
Issue number3
DOIs
Publication statusPublished - 2014

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Cholestanetriol 26-Monooxygenase
Cerebrotendinous Xanthomatosis
Tauopathies
Limbic System
Age Factors
Mutation
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neurology
  • Histology
  • Physiology (medical)

Cite this

Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy. / Kapás, I.; Katkó, M.; Harangi, M.; Paragh, G.; Balogh, I.; Kóczi, Z.; Regelsberger, G.; Molnár, M. J.; Kovacs, G. G.

In: Neuropathology and Applied Neurobiology, Vol. 40, No. 3, 2014, p. 345-350.

Research output: Contribution to journalArticle

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AU - Paragh, G.

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