Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 74

1.

[Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics].

Preiss Y, Santos JL, Smalley SV, Maiz A.

Rev Med Chil. 2014 May;142(5):616-22. doi: 10.4067/S0034-98872014000500010. Review. Spanish.

2.

Genetic movement disorders in patients of Jewish ancestry.

Inzelberg R, Hassin-Baer S, Jankovic J.

JAMA Neurol. 2014 Dec;71(12):1567-72. doi: 10.1001/jamaneurol.2014.1364. Review.

PMID:
25347348
3.

[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].

Varga VE, Katkó M, Harangi J, Balogh I, Kapás I, Madar L, Seres I, Molnár MJ, Paragh G, Kovács GG, Harangi M.

Orv Hetil. 2014 May 25;155(21):811-6. doi: 10.1556/OH.2014.29887. Review. Hungarian.

PMID:
24836315
4.

Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.

Bonnot O, Klünemann HH, Sedel F, Tordjman S, Cohen D, Walterfang M.

Orphanet J Rare Dis. 2014 Apr 28;9:65. doi: 10.1186/1750-1172-9-65. Review.

5.

[Therapeutic developments in chronic ataxias].

Buompadre MC.

Medicina (B Aires). 2013;73 Suppl 1:49-54. Review. Spanish.

6.

Psychiatric manifestations in cerebrotendinous xanthomatosis.

Fraidakis MJ.

Transl Psychiatry. 2013 Sep 3;3:e302. doi: 10.1038/tp.2013.76. Review.

7.

Cerebrotendinous xanthomatosis.

Björkhem I.

Curr Opin Lipidol. 2013 Aug;24(4):283-7. doi: 10.1097/MOL.0b013e328362df13. Review.

PMID:
23759795
8.

The neuropsychiatry of inborn errors of metabolism.

Walterfang M, Bonnot O, Mocellin R, Velakoulis D.

J Inherit Metab Dis. 2013 Jul;36(4):687-702. doi: 10.1007/s10545-013-9618-y. Epub 2013 May 23. Review.

PMID:
23700255
9.

Metabolic neuropathies and myopathies.

D'Amico A, Bertini E.

Handb Clin Neurol. 2013;113:1437-55. doi: 10.1016/B978-0-444-59565-2.00013-7. Review.

PMID:
23622366
10.

Hereditary ataxias: overview.

Jayadev S, Bird TD.

Genet Med. 2013 Sep;15(9):673-83. doi: 10.1038/gim.2013.28. Epub 2013 Mar 28. Review.

PMID:
23538602
11.

[Inborn errors of metabolism in adult neurology].

Sedel F.

Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S63-9. doi: 10.1016/S0035-3787(13)70062-6. Review. French.

PMID:
23452774
12.

Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.

Rubio-Agusti I, Kojovic M, Edwards MJ, Murphy E, Chandrashekar HS, Lachmann RH, Bhatia KP.

Mov Disord. 2012 Dec;27(14):1769-74. doi: 10.1002/mds.25229. Epub 2012 Nov 2. Review.

PMID:
23124517
13.

Myoclonus and dystonia in cerebrotendinous xanthomatosis.

Lagarde J, Roze E, Apartis E, Pothalil D, Sedel F, Couvert P, Vidailhet M, Degos B.

Mov Disord. 2012 Dec;27(14):1805-10. doi: 10.1002/mds.25206. Epub 2012 Oct 31. Review.

PMID:
23115103
14.

Five decades with oxysterols.

Björkhem I.

Biochimie. 2013 Mar;95(3):448-54. doi: 10.1016/j.biochi.2012.02.029. Epub 2012 Mar 1. Review.

PMID:
23111110
15.

Miscellaneous non-inflammatory musculoskeletal conditions. Rare thesaurismosis and xanthomatosis.

Chalès G, Coiffier G, Guggenbuhl P.

Best Pract Res Clin Rheumatol. 2011 Oct;25(5):683-701. doi: 10.1016/j.berh.2011.10.016. Review.

PMID:
22142747
16.

Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases.

Lorbek G, Lewinska M, Rozman D.

FEBS J. 2012 May;279(9):1516-33. doi: 10.1111/j.1742-4658.2011.08432.x. Epub 2011 Dec 22. Review.

PMID:
22111624
17.

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ.

Eur J Neurol. 2011 Oct;18(10):1203-11. doi: 10.1111/j.1468-1331.2011.03439.x. Epub 2011 Jun 4. Review.

PMID:
21645175
18.

The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.

Zlotogora J.

Hum Genet. 2010 Nov;128(5):473-9. doi: 10.1007/s00439-010-0890-8. Epub 2010 Sep 18. Review.

PMID:
20852892
19.

Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease.

Keren Z, Falik-Zaccai TC.

Pediatr Endocrinol Rev. 2009 Sep;7(1):6-11. Review.

PMID:
19696711
20.

Inherited metabolic disorders and cerebral infarction.

Kalidas K, Behrouz R.

Expert Rev Neurother. 2008 Nov;8(11):1731-41. doi: 10.1586/14737175.8.11.1731. Review.

PMID:
18986243
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk