Literature DB >> 22415344

Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation : six-year MRI follow-up.

Andrea Mignarri, Maria Teresa Dotti, Marina Del Puppo, Gian Nicola Gallus, Antonio Giorgio, Alfonso Cerase, Lucia Monti.   

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Year:  2012        PMID： 22415344     DOI： 10.1007/s00234-012-1026-8

Source DB:  PubMed          Journal:  Neuroradiology        ISSN： 0028-3940            Impact factor:   2.804


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  6 in total

1.  Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis.

Authors:  Géraldine Androdias; Sandra Vukusic; Laurence Gignoux; Odile Boespflug-Tanguy; Cécile Acquaviva; Marie-Thérèse Zabot; Philippe Couvert; Alain Carrie; Christian Confavreux; Pierre Labauge
Journal:  J Neurol       Date:  2011-07-19       Impact factor: 4.849

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.  Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.

Authors:  F Barkhof; A Verrips; P Wesseling; M S van Der Knaap; B G van Engelen; F J Gabreëls; A Keyser; R A Wevers; J Valk
Journal:  Radiology       Date:  2000-12       Impact factor: 11.105

4.  Cholestanol induces apoptosis of cerebellar neuronal cells.

Authors:  K Inoue; S Kubota; Y Seyama
Journal:  Biochem Biophys Res Commun       Date:  1999-03-05       Impact factor: 3.575

Review 5.  Oxysterols and neurodegenerative diseases.

Authors:  Ingemar Björkhem; Angel Cedazo-Minguez; Valerio Leoni; Steve Meaney
Journal:  Mol Aspects Med       Date:  2009-02-25

6.  On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis.

Authors:  Ute Panzenboeck; Ulla Andersson; Magnus Hansson; Wolfgang Sattler; Steve Meaney; Ingemar Björkhem
Journal:  J Lipid Res       Date:  2007-02-26       Impact factor: 5.922
  6 in total
  9 in total

1.  Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.

Authors:  Andrea Mignarri; Alessandro Magni; Marina Del Puppo; Gian Nicola Gallus; Ingemar Björkhem; Antonio Federico; Maria Teresa Dotti
Journal:  J Inherit Metab Dis       Date:  2015-07-08       Impact factor: 4.982

2.  Cerebrotendinous xanthomatosis: the effectiveness of high-dose piracetam for the treatment of cerebellar and sensorial ataxia.

Authors:  Ugur Uygunoglu; Aysegul Gunduz; Sukriye F Menku; Basak Yilmaz; Esra Hatipoglu; Cengiz Yalcinkaya; Sabahattin Saip; Hulya Apaydin
Journal:  Cerebellum       Date:  2014-12       Impact factor: 3.847

3.  A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.

Authors:  Andrea Mignarri; Gian Nicola Gallus; Maria Teresa Dotti; Antonio Federico
Journal:  J Inherit Metab Dis       Date:  2014-01-18       Impact factor: 4.982

4.  The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.

Authors:  Andrea Mignarri; Maria Teresa Dotti; Antonio Federico; Nicola De Stefano; Marco Battaglini; Irene Grazzini; Paolo Galluzzi; Lucia Monti
Journal:  J Neurol       Date:  2017-03-21       Impact factor: 4.849

Review 5.  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 6.  Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.

Authors:  Shuke Nie; Guiqin Chen; Xuebing Cao; Yunjian Zhang
Journal:  Orphanet J Rare Dis       Date:  2014-11-26       Impact factor: 4.123

7.  c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.

Authors:  Jingwen Jiang; Guang Chen; Jingying Wu; Xinghua Luan; Haiyan Zhou; Xiaoli Liu; Zeyu Zhu; Xiaoxuan Song; Shige Wang; Xiaohang Qian; Juanjuan Du; Xiaojun Huang; Mei Zhang; Wei Xu; Li Cao
Journal:  Front Genet       Date:  2020-07-01       Impact factor: 4.599

8.  Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.

Authors:  Lan-Xiao Cao; Mi Yang; Ying Liu; Wen-Ying Long; Guo-Hua Zhao
Journal:  World J Clin Cases       Date:  2020-11-06       Impact factor: 1.337

9.  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
  9 in total

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