175 related articles for article (PubMed ID: 36959818)
1. Case report: Cerebrotendinous xanthomatosis with a novel mutation in the
Chun MY; Heo NJ; Seo SW; Jang H; Suh YL; Jang JH; Kim YE; Kim EJ; Moon SY; Jung NY; Lee SM; Kim HJ
Front Neurol; 2023; 14():1131888. PubMed ID: 36959818
[TBL] [Abstract][Full Text] [Related]
2. Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.
Koyama S; Okabe Y; Suzuki Y; Igari R; Sato H; Iseki C; Tanji K; Suzuki K; Ohta Y
BMC Neurol; 2022 May; 22(1):193. PubMed ID: 35614401
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.
Gelzo M; Di Taranto MD; Bisecco A; D'Amico A; Capuano R; Giacobbe C; Caputo M; Cirillo M; Tedeschi G; Fortunato G; Corso G
Acta Neurol Belg; 2021 Apr; 121(2):561-566. PubMed ID: 31875301
[TBL] [Abstract][Full Text] [Related]
5. A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene.
Stenos C; Kalafatakis K; Constantoulakis P; Zekiou K; Margoni A; Kardara P; Terentiou A; Stouraitis G; Nikolaou G
J Clin Lipidol; 2022; 16(3):281-285. PubMed ID: 35428606
[TBL] [Abstract][Full Text] [Related]
6. Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.
Köroğlu M; Karakaplan M; Gündüz E; Kesriklioğlu B; Ergen E; Aslantürk O; Özdemir ZM
Orphanet J Rare Dis; 2024 Feb; 19(1):53. PubMed ID: 38336741
[TBL] [Abstract][Full Text] [Related]
7. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S; Chen G; Cao X; Zhang Y
Orphanet J Rare Dis; 2014 Nov; 9():179. PubMed ID: 25424010
[TBL] [Abstract][Full Text] [Related]
8. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
Appadurai V; DeBarber A; Chiang PW; Patel SB; Steiner RD; Tyler C; Bonnen PE
Mol Genet Metab; 2015 Dec; 116(4):298-304. PubMed ID: 26643207
[TBL] [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. [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]
11. Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I; Millán DS; Benoît W; Campos-Xavier B; Superti-Furga A; Tran C
Mol Genet Metab Rep; 2021 Mar; 26():100719. PubMed ID: 33659184
[TBL] [Abstract][Full Text] [Related]
12. Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis.
Smalley SV; Preiss Y; Suazo J; Vega JA; Angellotti I; Lagos CF; Rivera E; Kleinsteuber K; Campion J; Martínez JA; Maiz A; Santos JL
Genet Mol Biol; 2015 Mar; 38(1):30-6. PubMed ID: 25983621
[TBL] [Abstract][Full Text] [Related]
13. [Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].
Lionnet C; Carra C; Ayrignac X; Levade T; Gayraud D; Castelnovo G; Besson G; Androdias G; Vukusic S; Confavreux C; Zaenker C; De Seze J; Collongues N; Blanc F; Tranchant C; Wallon D; Hannequin D; Gerdelat-Mas A; Brassat D; Clanet M; Zephir H; Outteryck O; Vermersch P; Labauge P
Rev Neurol (Paris); 2014; 170(6-7):445-53. PubMed ID: 24746394
[TBL] [Abstract][Full Text] [Related]
14. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
Salen G; Steiner RD
J Inherit Metab Dis; 2017 Nov; 40(6):771-781. PubMed ID: 28980151
[TBL] [Abstract][Full Text] [Related]
15. Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.
Rashvand Z; Kahrizi K; Najmabadi H; Najafipour R; Omrani MD
Iran Biomed J; 2021 Mar; 25(2):132-9. PubMed ID: 33400472
[TBL] [Abstract][Full Text] [Related]
16. Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.
Fernández-Eulate G; Martin GC; Dureau P; Speeg-Spatz C; Brassier A; Gillard P; Bremond-Gignac D; Thouvenin D; Pagan C; Lamari F; Nadjar Y
Orphanet J Rare Dis; 2022 Dec; 17(1):434. PubMed ID: 36514115
[TBL] [Abstract][Full Text] [Related]
17. Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.
Guenzel AJ; DeBarber A; Raymond K; Dhamija R
JIMD Rep; 2021 May; 59(1):3-9. PubMed ID: 33977023
[TBL] [Abstract][Full Text] [Related]
18. Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts.
Freedman SF; Brennand C; Chiang J; DeBarber A; Del Monte MA; Duell PB; Fiorito J; Marshall R
JAMA Ophthalmol; 2019 Nov; 137(11):1312-1316. PubMed ID: 31536098
[TBL] [Abstract][Full Text] [Related]
19. [Cerebrotendinous xanthomatosis. Report of one case].
Contreras JP; Guajardo G; Martínez A; López I; Cea G
Rev Med Chil; 2019 May; 147(5):658-662. PubMed ID: 31859899
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]