These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

497 related articles for article (PubMed ID: 28919002)

  • 1. 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]  

  • 2. [X-linked adrenoleukodystrophy].
    Aubourg P
    Ann Endocrinol (Paris); 2007 Dec; 68(6):403-11. PubMed ID: 17532287
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
    Kemp S; Pujol A; Waterham HR; van Geel BM; Boehm CD; Raymond GV; Cutting GR; Wanders RJ; Moser HW
    Hum Mutat; 2001 Dec; 18(6):499-515. PubMed ID: 11748843
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. [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]  

  • 6. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
    Asheuer M; Bieche I; Laurendeau I; Moser A; Hainque B; Vidaud M; Aubourg P
    Hum Mol Genet; 2005 May; 14(10):1293-303. PubMed ID: 15800013
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. A Large Family with p.Arg554His Mutation in
    Campopiano R; Femiano C; Chiaravalloti MA; Ferese R; Centonze D; Buttari F; Zampatti S; Fanelli M; Amatori S; D'Alessio C; Giardina E; Fornai F; Biagioni F; Storto M; Gambardella S
    Genes (Basel); 2021 May; 12(5):. PubMed ID: 34069712
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN.
    O'Neill GN; Aoki M; Brown RH
    Neurology; 2001 Dec; 57(11):1956-62. PubMed ID: 11739809
    [TBL] [Abstract][Full Text] [Related]  

  • 10. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
    Kemp S; Berger J; Aubourg P
    Biochim Biophys Acta; 2012 Sep; 1822(9):1465-74. PubMed ID: 22483867
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions.
    Kruska N; Schönfeld P; Pujol A; Reiser G
    Biochim Biophys Acta; 2015 May; 1852(5):925-36. PubMed ID: 25583114
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.
    Qiu Y; Xin L; Wang Y; Yu Y; Zou K; Zhou Q; Chen Y; Chen S; Zhu M; Hong D
    Neurodegener Dis; 2018; 18(2-3):156-164. PubMed ID: 29966135
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.
    Liu J; Wang X; Huang D; Qi Y; Xu L; Shao Y
    Medicine (Baltimore); 2024 Apr; 103(16):e37874. PubMed ID: 38640304
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. ABCD1 dysfunction alters white matter microvascular perfusion.
    Lauer A; Da X; Hansen MB; Boulouis G; Ou Y; Cai X; Liberato Celso Pedrotti A; Kalpathy-Cramer J; Caruso P; Hayden DL; Rost N; Mouridsen K; Eichler FS; Rosen B; Musolino PL
    Brain; 2017 Dec; 140(12):3139-3152. PubMed ID: 29136088
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.
    Huffnagel IC; van de Beek MC; Showers AL; Orsini JJ; Klouwer FCC; Dijkstra IME; Schielen PC; van Lenthe H; Wanders RJA; Vaz FM; Morrissey MA; Engelen M; Kemp S
    Mol Genet Metab; 2017 Dec; 122(4):209-215. PubMed ID: 29089175
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
    Schackmann MJ; Ofman R; van Geel BM; Dijkstra IM; van Engelen K; Wanders RJ; Engelen M; Kemp S
    Mol Genet Metab; 2016 Jun; 118(2):123-7. PubMed ID: 27067449
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 25.