Literature DB >> 23659550

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

I Kapás1, M Katkó, M Harangi, G Paragh, I Balogh, Z Kóczi, G Regelsberger, M J Molnár, G G Kovacs.   

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Year:  2014        PMID： 23659550     DOI： 10.1111/nan.12058

Source DB:  PubMed          Journal:  Neuropathol Appl Neurobiol        ISSN： 0305-1846            Impact factor:   8.090


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  4 in total

Review 1.  Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.

Authors:  Janice C Wong; Kailey Walsh; Douglas Hayden; Florian S Eichler
Journal:  J Inherit Metab Dis       Date:  2018-02-26       Impact factor: 4.982

Review 2.  Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories.

Authors:  Pawel Tacik; Monica Sanchez-Contreras; Rosa Rademakers; Dennis W Dickson; Zbigniew K Wszolek
Journal:  Neurodegener Dis       Date:  2015-11-10       Impact factor: 2.977

3.  Classification of diseases with accumulation of Tau protein.

Authors:  Gabor G Kovacs; Bernardino Ghetti; Michel Goedert
Journal:  Neuropathol Appl Neurobiol       Date:  2022-02-09       Impact factor: 6.250

4.  Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.

Authors:  Ewelina Elert-Dobkowska; Iwona Stepniak; Wioletta Krysa; Karolina Ziora-Jakutowicz; Maria Rakowicz; Anna Sobanska; Jacek Pilch; Dorota Antczak-Marach; Jacek Zaremba; Anna Sulek
Journal:  Neurogenetics       Date:  2019-02-19       Impact factor: 2.660
  4 in total

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