202 related articles for article (PubMed ID: 18227423)
1. The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.
Szlago M; Gallus GN; Schenone A; Patiño ME; Sfaelo Z; Rufa A; Da Pozzo P; Cardaioli E; Dotti MT; Federico A
Neurology; 2008 Jan; 70(5):402-4. PubMed ID: 18227423
[No Abstract] [Full Text] [Related]
2. [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; 155(21):811-6. PubMed ID: 24836315
[TBL] [Abstract][Full Text] [Related]
3. A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene.
Koyama S; Kawanami T; Tanji H; Arawaka S; Wada M; Saito N; Kato T
Clin Neurol Neurosurg; 2012 Sep; 114(7):1021-3. PubMed ID: 22336472
[No Abstract] [Full Text] [Related]
4. Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene.
Yoshinaga T; Sekijima Y; Koyama S; Maruyama K; Yoshida T; Kato T; Ikeda S
Intern Med; 2014; 53(23):2725-9. PubMed ID: 25447658
[TBL] [Abstract][Full Text] [Related]
5. Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.
Shah K; Mathew V; Gallus GN; Dotti MT; Federico A; Danda S
Neurol India; 2012; 60(6):643-4. PubMed ID: 23287330
[No Abstract] [Full Text] [Related]
6. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
Zubarioglu T; Kıykım E; Köse E; Eminoğlu FT; Teke Kısa P; Balcı MC; Özer I; İnci A; Çilesiz K; Canda E; Yazıcı H; Öztürk-Hişmi B; Bulut FD; Dorum S; Akgun A; Yalçın-Çakmaklı G; Kılıç-Yıldırım G; Soyuçen E; Akçalı A; Güneş D; Durmuş A; Gündüz A; Kasapkara ÇS; Göksoy E; Akar HT; Ersoy M; Erdöl Ş; Yıldız Y; Hanağası HA; Arslan N; Aktuğlu-Zeybek Ç
Mol Genet Metab; 2024 Jun; 142(2):108493. PubMed ID: 38772327
[TBL] [Abstract][Full Text] [Related]
7. Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.
Suh S; Kim HK; Park HD; Ki CS; Kim MY; Jin SM; Kim SW; Hur KY; Kim KW; Kim JH
Eur J Med Genet; 2012 Jan; 55(1):71-4. PubMed ID: 21958693
[TBL] [Abstract][Full Text] [Related]
8. Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis.
Bartholdi D; Zumsteg D; Verrips A; Wevers RA; Sistermans E; Hess K; Jung HH
J Neurol; 2004 Jan; 251(1):105-7. PubMed ID: 14999499
[No Abstract] [Full Text] [Related]
9. Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review.
Lee CW; Lee JJ; Lee YF; Wang PW; Pan TL; Chang WN; Tsai MH
J Clin Lipidol; 2019; 13(6):954-959.e1. PubMed ID: 31706903
[TBL] [Abstract][Full Text] [Related]
10. 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; 57(11):1611-1616. PubMed ID: 29434128
[TBL] [Abstract][Full Text] [Related]
11. A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels.
Takahashi M; Okazaki H; Tada H; Ishibashi S
J Clin Lipidol; 2023; 17(6):834-838. PubMed ID: 37777472
[TBL] [Abstract][Full Text] [Related]
12. [A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1].
Koge J; Hayashi S; Yamaguchi H; Tateishi T; Murai H; Kira JI
Rinsho Shinkeigaku; 2016 Oct; 56(10):667-671. PubMed ID: 27680221
[TBL] [Abstract][Full Text] [Related]
13. Presenile cataract: consider cholestanol.
Tészás A; Pfund Z; Morava E; Kosztolányi G; Sistermans E; Wevers RA; Kellermayer R
Arch Ophthalmol; 2006 Oct; 124(10):1490-2. PubMed ID: 17030721
[No Abstract] [Full Text] [Related]
14. Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.
Mandrile G; Gallus GN; Mura G; Di Sapio A; Sotgiu MA; Montella A; Giachino DF; Dotti MT; Ulgheri L; Federico A
Neurol Sci; 2014 Aug; 35(8):1303-5. PubMed ID: 24584636
[No Abstract] [Full Text] [Related]
15. Four novel CYP27A1 mutations in seven Italian patients with CTX.
Gallus GN; Dotti MT; Mignarri A; Rufa A; Da Pozzo P; Cardaioli E; Federico A
Eur J Neurol; 2010 Oct; 17(10):1259-62. PubMed ID: 20402754
[TBL] [Abstract][Full Text] [Related]
16. A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
Takasone K; Morizumi T; Nakamura K; Mochizuki Y; Yoshinaga T; Koyama S; Sekijima Y
Intern Med; 2020 Oct; 59(20):2587-2591. PubMed ID: 32581172
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 28623566
[TBL] [Abstract][Full Text] [Related]
18. Cerebrotendinous xanthomatosis.
Björkhem I
Curr Opin Lipidol; 2013 Aug; 24(4):283-7. PubMed ID: 23759795
[TBL] [Abstract][Full Text] [Related]
19. A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene.
Ghoshouni H; Sarmadian R; Irilouzadian R; Biglari HN; Gilani A
J Investig Med High Impact Case Rep; 2023; 11():23247096231168109. PubMed ID: 37083278
[TBL] [Abstract][Full Text] [Related]
20. Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy.
Kapás I; Katkó M; Harangi M; Paragh G; Balogh I; Kóczi Z; Regelsberger G; Molnár MJ; Kovacs GG
Neuropathol Appl Neurobiol; 2014 Apr; 40(3):345-50. PubMed ID: 23659550
[No Abstract] [Full Text] [Related]
[Next] [New Search]