Literature DB >> 21769531

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

Géraldine Androdias, Sandra Vukusic, Laurence Gignoux, Odile Boespflug-Tanguy, Cécile Acquaviva, Marie-Thérèse Zabot, Philippe Couvert, Alain Carrie, Christian Confavreux, Pierre Labauge.   

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Year:  2011        PMID： 21769531     DOI： 10.1007/s00415-011-6167-x

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


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  6 in total

Review 1.  Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.

Authors:  G N Gallus; M T Dotti; A Federico
Journal:  Neurol Sci       Date:  2006-06       Impact factor: 3.307

2.  Botulinum toxin-responsive oromandibular dystonia in cerebrotendinous xanthomatosis.

Authors:  Ignacio J Posada; Ana Ramos
Journal:  Parkinsonism Relat Disord       Date:  2011-04-29       Impact factor: 4.891

3.  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

4.  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

5.  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

6.  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
  6 in total
  7 in total

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

Authors:  Andrea Mignarri; Maria Teresa Dotti; Marina Del Puppo; Gian Nicola Gallus; Antonio Giorgio; Alfonso Cerase; Lucia Monti
Journal:  Neuroradiology       Date:  2012-03-15       Impact factor: 2.804

Review 2.  Recent advances in clinical neurogenetics.

Authors:  José Berciano
Journal:  J Neurol       Date:  2012-11-16       Impact factor: 4.849

Review 3.  Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.

Authors:  Xavier Ayrignac; Clemence Boutiere; Clarisse Carra-Dalliere; Pierre Labauge
Journal:  J Neurol       Date:  2016-04-28       Impact factor: 4.849

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.  Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives.

Authors:  Felipe Franco da Graça; Thiago Junqueira Ribeiro de Rezende; Luiz Felipe Rocha Vasconcellos; José Luiz Pedroso; Orlando Graziani P Barsottini; Marcondes C França
Journal:  Front Neurol       Date:  2019-01-16       Impact factor: 4.003

7.  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
  7 in total

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