Literature DB >> 12242561

Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.

Ming-Jen Lee, Yuan-Chung Huang, Mary G Sweeney, Nicholas W Wood, Mary M Reilly, Ping-Keung Yip.   

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Year:  2002        PMID： 12242561     DOI： 10.1007/s00415-002-0762-9

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  8 in total

1.  Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

Authors:  A Verrips; L H Hoefsloot; G C Steenbergen; J P Theelen; R A Wevers; F J Gabreëls; B G van Engelen; L P van den Heuvel
Journal:  Brain       Date:  2000-05       Impact factor: 13.501

2.  Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis.

Authors:  N De Stefano; M T Dotti; M Mortilla; A Federico
Journal:  Brain       Date:  2001-01       Impact factor: 13.501

3.  Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

Authors:  J J Cali; C L Hsieh; U Francke; D W Russell
Journal:  J Biol Chem       Date:  1991-04-25       Impact factor: 5.157

4.  Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients.

Authors:  A Verrips; B G van Engelen; H ter Laak; A Gabreëls-Festen; A Janssen; M Zwarts; R A Wevers; F J Gabreëls
Journal:  Neuromuscul Disord       Date:  2000-08       Impact factor: 4.296

5.  Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.

Authors:  M H Lee; S Hazard; J D Carpten; S Yi; J Cohen; G T Gerhardt; G Salen; S B Patel
Journal:  J Lipid Res       Date:  2001-02       Impact factor: 5.922

6.  Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.

Authors:  K Shiga; R Fukuyama; S Kimura; K Nakajima; S Fushiki
Journal:  J Neurol Neurosurg Psychiatry       Date:  1999-11       Impact factor: 10.154

7.  Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.

Authors:  E Leitersdorf; A Reshef; V Meiner; R Levitzki; S P Schwartz; E J Dann; N Berkman; J J Cali; L Klapholz; V M Berginer
Journal:  J Clin Invest       Date:  1993-06       Impact factor: 14.808

8.  Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.

Authors:  R Garuti; N Lelli; M Barozzini; R Tiozzo; M T Dotti; A Federico; A M Ottomano; A Croce; S Bertolini; S Calandra
Journal:  J Lipid Res       Date:  1996-07       Impact factor: 5.922
  8 in total
  2 in total

1.  Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.

Authors:  Chen Chen; Yue Zhang; Hui Wu; Yi-Min Sun; Ye-Hua Cai; Jian-Jun Wu; Jian Wang; Ling-Yun Gong; Zheng-Tong Ding
Journal:  Metab Brain Dis       Date:  2017-06-17       Impact factor: 3.584

2.  Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population.

Authors:  Shu Zhang; Wei Li; Rui Zheng; Bing Zhao; Yongqing Zhang; Dandan Zhao; Cuiping Zhao; Chuanzhu Yan; Yuying Zhao
Journal:  Ann Transl Med       Date:  2020-11
  2 in total

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