BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

389 related articles for article (PubMed ID: 17662307)

  • 1. Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.
    Sutovský S; Petrovic R; Chandoga J; Turcáni P
    J Neurol Sci; 2007 Dec; 263(1-2):149-53. PubMed ID: 17662307
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Differing clinical presentations of two unrelated cases of X-linked adrenoleukodystrophy with identical mutation Y296C in the ABCD1 gene.
    Sutovský S; Kolníková M; Petrovic R; Kollár B; Siarnik P; Chandoga J; Fischerová M; Turcáni P
    Neuro Endocrinol Lett; 2014; 35(5):411-6. PubMed ID: 25275259
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier.
    Finsterer J; Lässer S; Stöphasius E
    Gene; 2013 Nov; 530(1):155-7. PubMed ID: 23962690
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy].
    Wang AH; Bao XH; Xiong H; Pan H; Wu Y; Zhang YH; Shi CY; Qin J; Wu XR
    Zhonghua Er Ke Za Zhi; 2005 May; 43(5):345-9. PubMed ID: 15924749
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
    Kallabi F; Hadj Salem I; Ben Salah G; Ben Turkia H; Ben Chehida A; Tebib N; Fakhfakh F; Kamoun H
    Neurodegener Dis; 2013; 12(4):207-11. PubMed ID: 23651979
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.
    Kallabi F; Ellouz E; Tabebi M; Ben Salah G; Kaabechi N; Keskes L; Triki C; Kamoun H
    Clin Chim Acta; 2016 Jan; 453():141-6. PubMed ID: 26686776
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.
    Hung KL; Wang JS; Keng WT; Chen HJ; Liang JS; Ngu LH; Lu JF
    Pediatr Neurol; 2013 Sep; 49(3):185-90. PubMed ID: 23835273
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.
    Ogaki K; Koga S; Aoki N; Lin W; Suzuki K; Ross OA; Dickson DW
    Neuropathology; 2016 Feb; 36(1):64-76. PubMed ID: 26227820
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.
    Kallabi F; Hadj Salem I; Ben Chehida A; Ben Salah G; Ben Turkia H; Tebib N; Keskes L; Kamoun H
    Neurosci Res; 2015 Aug; 97():7-12. PubMed ID: 25835712
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].
    Pan H; Xiong H; Zhang YH; Wu Y; Bao XH; Jiang YW; Wu XR
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):1-4. PubMed ID: 14767898
    [TBL] [Abstract][Full Text] [Related]  

  • 11. X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.
    Curiel J; Steinberg SJ; Bright S; Snowden A; Moser AB; Eichler F; Dubbs HA; Hacia JG; Ely JJ; Bezner J; Gean A; Vanderver A
    Mol Genet Metab; 2017 Nov; 122(3):130-133. PubMed ID: 28919002
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De novo ABCD1 gene mutation in an Indian patient with adrenoleukodystrophy.
    Kumar N; Shukla P; Taneja KK; Kalra V; Bansal SK
    Pediatr Neurol; 2008 Oct; 39(4):289-92. PubMed ID: 18805372
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Preliminary analysis of mutations in X-linked adrenoleukodystrophy gene(ABCD1) in Chinese patients].
    Xiong H; Pan H; Zhang YH; Wu XR
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Oct; 20(5):400-3. PubMed ID: 14556192
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
    Dvoráková L; Storkánová G; Unterrainer G; Hujová J; Kmoch S; Zeman J; Hrebícek M; Berger J
    Hum Mutat; 2001; 18(1):52-60. PubMed ID: 11438993
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.
    Karkar A; Barakat A; Bakhchane A; Fettah H; Slassi I; Dorboz I; Boespflug-Tanguy O; Nadifi S
    BMC Neurol; 2015 Nov; 15():244. PubMed ID: 26607867
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.
    İncecik F; Hergüner MÖ; Mert G; Önenli-Mungan N; Ceylaner S; Kör D; Altunbaşak Ş
    Turk J Pediatr; 2014; 56(6):651-3. PubMed ID: 26388597
    [TBL] [Abstract][Full Text] [Related]  

  • 17. X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.
    Maier EM; Mayerhofer PU; Asheuer M; Köhler W; Rothe M; Muntau AC; Roscher AA; Holzinger A; Aubourg P; Berger J
    Biochem Biophys Res Commun; 2008 Dec; 377(1):176-80. PubMed ID: 18834860
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
    Chu SS; Ye J; Zhang HW; Han LS; Qiu WJ; Gao XL; Gu XF
    World J Pediatr; 2015 Nov; 11(4):366-73. PubMed ID: 26454440
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A case of adult-onset adrenoleukodystrophy with frontal lobe dysfunction: a novel point mutation in the ABCD1 gene.
    Inoue S; Terada S; Matsumoto T; Ujike H; Uchitomi Y
    Intern Med; 2012; 51(11):1403-6. PubMed ID: 22687851
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Metformin-induced mitochondrial function and ABCD2 up-regulation in X-linked adrenoleukodystrophy involves AMP-activated protein kinase.
    Singh J; Olle B; Suhail H; Felicella MM; Giri S
    J Neurochem; 2016 Jul; 138(1):86-100. PubMed ID: 26849413
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.