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Items: 1 to 20 of 62

1.

Psychiatric Disorders Secondary to Neurometabolic Disorders.

Herrera PM, Vélez Van Meerbeke A, Bonnot O.

Rev Colomb Psiquiatr. 2018 Oct - Dec;47(4):244-251. doi: 10.1016/j.rcp.2017.05.004. Epub 2017 Jun 17. Review. English, Spanish.

PMID:
30286847
2.

A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.

Rossi M, Cesarini M, Gatto EM, Cammarota A, Merello M.

Tremor Other Hyperkinet Mov (N Y). 2018 May 17;8:538. doi: 10.7916/D8X07Q2N. eCollection 2018.

3.

Identification of 7α,24-dihydroxy-3-oxocholest-4-en-26-oic and 7α,25-dihydroxy-3-oxocholest-4-en-26-oic acids in human cerebrospinal fluid and plasma.

Abdel-Khalik J, Crick PJ, Yutuc E, DeBarber AE, Duell PB, Steiner RD, Laina I, Wang Y, Griffiths WJ.

Biochimie. 2018 Oct;153:86-98. doi: 10.1016/j.biochi.2018.06.020. Epub 2018 Jun 28.

4.

Laboratory investigations.

Boltshauser E, Weber KP.

Handb Clin Neurol. 2018;154:287-298. doi: 10.1016/B978-0-444-63956-1.00017-5. Review.

PMID:
29903445
5.

Liver transplantation due to cerebrotendinous xanthomatosis end-stage liver disease.

Shen CH, Wang ZX.

World J Pediatr. 2018 Aug;14(4):414-415. doi: 10.1007/s12519-018-0151-9. Epub 2018 May 23. No abstract available.

PMID:
29796951
6.

Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole.

Weissfeld T, Ratliff J.

J Clin Neurosci. 2018 Jul;53:263-264. doi: 10.1016/j.jocn.2018.04.043. Epub 2018 May 3.

PMID:
29731275
7.

Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.

Sasamura A, Akazawa S, Haraguchi A, Horie I, Ando T, Abiru N, Takei H, Nittono H, Une M, Kurosawa T, Murai T, Naruse H, Nakayama T, Kotani K, Remaley AT, Kawakami A.

Intern Med. 2018 Jun 1;57(11):1611-1616. doi: 10.2169/internalmedicine.0120-17. Epub 2018 Feb 9.

8.

Nationwide survey on cerebrotendinous xanthomatosis in Japan.

Sekijima Y, Koyama S, Yoshinaga T, Koinuma M, Inaba Y.

J Hum Genet. 2018 Mar;63(3):271-280. doi: 10.1038/s10038-017-0389-4. Epub 2018 Jan 10.

PMID:
29321515
9.

Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing.

Tada H, Inaba S, Pozharitckaia D, Kawashiri MA.

Intern Med. 2018 Apr 15;57(8):1119-1122. doi: 10.2169/internalmedicine.9687-17. Epub 2017 Dec 21.

10.

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Catarino CB, Vollmar C, Küpper C, Seelos K, Gallenmüller C, Bartkiewicz J, Biskup S, Hörtnagel K, Klopstock T.

J Neurol. 2018 Feb;265(2):388-393. doi: 10.1007/s00415-017-8711-9. Epub 2017 Dec 19.

PMID:
29260356
11.

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

Burguez D, Polese-Bonatto M, Scudeiro LAJ, Björkhem I, Schöls L, Jardim LB, Matte U, Saraiva-Pereira ML, Siebert M, Saute JAM.

J Neurol Sci. 2017 Dec 15;383:18-25. doi: 10.1016/j.jns.2017.10.010. Epub 2017 Oct 10.

PMID:
29246610
12.

Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer.

Wang Y, Griffiths WJ.

Curr Opin Clin Nutr Metab Care. 2018 Mar;21(2):90-96. doi: 10.1097/MCO.0000000000000442. Review.

13.

Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts.

Tibrewal S, Duell PB, DeBarber AE, Loh AR.

J AAPOS. 2017 Dec;21(6):505-507. doi: 10.1016/j.jaapos.2017.07.211. Epub 2017 Oct 24.

PMID:
29079218
14.

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

Salen G, Steiner RD.

J Inherit Metab Dis. 2017 Nov;40(6):771-781. doi: 10.1007/s10545-017-0093-8. Epub 2017 Oct 4. Review.

PMID:
28980151
15.

Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.

Gong JY, Setchell KDR, Zhao J, Zhang W, Wolfe B, Lu Y, Lackner K, Knisely AS, Wang NL, Hao CZ, Zhang MH, Wang JS.

J Pediatr Gastroenterol Nutr. 2017 Nov;65(5):561-568. doi: 10.1097/MPG.0000000000001730.

PMID:
28937538
16.

Teaching NeuroImages: Early-onset dementia and demyelinating neuropathy disclosing cerebrotendinous xanthomatosis.

Souza PVS, Bortholin T, Naylor FGM, Pinto WBVR, Oliveira ASB.

Neurology. 2017 Sep 12;89(11):e134. doi: 10.1212/WNL.0000000000004363. Epub 2017 Sep 11. No abstract available.

PMID:
28894038
17.

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

Chen C, Zhang Y, Wu H, Sun YM, Cai YH, Wu JJ, Wang J, Gong LY, Ding ZT.

Metab Brain Dis. 2017 Oct;32(5):1609-1618. doi: 10.1007/s11011-017-0047-8. Epub 2017 Jun 17.

PMID:
28623566
18.

Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.

Alhariri A, Hamilton K, Oza V, Cordoro K, Sobreira NL, Malloy M, Slavotinek A.

Am J Med Genet A. 2017 Aug;173(8):2275-2279. doi: 10.1002/ajmg.a.38314. Epub 2017 Jun 7.

PMID:
28590052
19.

Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis.

Stelten BML, van der Knaap MS, Wevers RA, Verrips A.

Pediatr Neurol. 2017 Aug;73:98-100. doi: 10.1016/j.pediatrneurol.2017.04.007. Epub 2017 Apr 18.

PMID:
28554492
20.

Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.

Traboulsee AL, Sadovnick AD, Encarnacion M, Bernales CQ, Yee IM, Criscuoli MG, Vilariño-Güell C.

Hum Genet. 2017 Jun;136(6):705-714. doi: 10.1007/s00439-017-1784-9. Epub 2017 Mar 23.

PMID:
28337550

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