Literature DB >> 18227423

The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.

M Szlago1, G N Gallus, A Schenone, M E Patiño, Z Sfaelo, A Rufa, P Da Pozzo, E Cardaioli, M T Dotti, A Federico.   

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Year:  2008        PMID： 18227423     DOI： 10.1212/01.wnl.0000280460.28039.3d

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  5 in total

1.  Past, present and future therapeutics for cerebellar ataxias.

Authors:  D Marmolino; M Manto
Journal:  Curr Neuropharmacol       Date:  2010-03       Impact factor: 7.363

Review 2.  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 3.  Psychiatric manifestations in cerebrotendinous xanthomatosis.

Authors:  M J Fraidakis
Journal:  Transl Psychiatry       Date:  2013-09-03       Impact factor: 6.222

4.  A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.

Authors:  Malco Rossi; Martin Cesarini; Emilia M Gatto; Angel Cammarota; Marcelo Merello
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2018-05-17

5.  Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.

Authors:  Shingo Koyama; Yoshiki Sekijima; Masatsune Ogura; Mika Hori; Kota Matsuki; Takashi Miida; Mariko Harada-Shiba
Journal:  J Atheroscler Thromb       Date:  2021-05-08       Impact factor: 4.928
  5 in total

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