Literature DB >> 25112387

Look carefully to the heels! A potentially treatable cause of spastic paraplegia.

Jonas Alex Saute1, Roberto Giugliani, Louise S Merkens, John Pei-Wen Chiang, Andrea E DeBarber, Carolina Fischinger Moura de Souza.   

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Year:  2014        PMID： 25112387     DOI： 10.1007/s10545-014-9745-0

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

Authors:  Lucie Guyant-Maréchal; Aad Verrips; Carole Girard; Ron A Wevers; Fokje Zijlstra; Erik Sistermans; Pierre Vera; Dominique Campion; Didier Hannequin
Journal:  Am J Med Genet A       Date:  2005-12-01       Impact factor: 2.802

2.  Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.

Authors:  A Verrips; G J Nijeholt; F Barkhof; B G Van Engelen; P Wesseling; J A Luyten; R A Wevers; J Stam; J H Wokke; L P van den Heuvel; A Keyser; F J Gabreëls
Journal:  Brain       Date:  1999-08       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
  3 in total
  6 in total

1.  Nationwide survey on cerebrotendinous xanthomatosis in Japan.

Authors:  Yoshiki Sekijima; Shingo Koyama; Tsuneaki Yoshinaga; Masayoshi Koinuma; Yuji Inaba
Journal:  J Hum Genet       Date:  2018-01-10       Impact factor: 3.172

Review 2.  Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Authors:  Hélio A G Teive; Carlos Henrique F Camargo; Eduardo R Pereira; Léo Coutinho; Renato P Munhoz
Journal:  Neurogenetics       Date:  2022-04-09       Impact factor: 3.017

Review 3.  Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).

Authors:  Gerald Salen; Robert D Steiner
Journal:  J Inherit Metab Dis       Date:  2017-10-04       Impact factor: 4.982

4.  Additional pathways of sterol metabolism: Evidence from analysis of Cyp27a1-/- mouse brain and plasma.

Authors:  William J Griffiths; Peter J Crick; Anna Meljon; Spyridon Theofilopoulos; Jonas Abdel-Khalik; Eylan Yutuc; Josie E Parker; Diane E Kelly; Steven L Kelly; Ernest Arenas; Yuqin Wang
Journal:  Biochim Biophys Acta Mol Cell Biol Lipids       Date:  2018-11-22       Impact factor: 4.698

5.  A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.

Authors:  Ken Takasone; Teruya Morizumi; Katsuya Nakamura; Yusuke Mochizuki; Tsuneaki Yoshinaga; Shingo Koyama; Yoshiki Sekijima
Journal:  Intern Med       Date:  2020-06-23       Impact factor: 1.271

6.  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
  6 in total

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