162 related articles for article (PubMed ID: 21264817)
1. Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family.
Valadares ER; Trindade AL; Oliveira LR; Arantes RR; Daker MV; Viana BM; Haase VG; Jardim LB; Lopes GC; Godard AL
Genet Mol Res; 2011 Jan; 10(1):65-74. PubMed ID: 21264817
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
Mosser J; Douar AM; Sarde CO; Kioschis P; Feil R; Moser H; Poustka AM; Mandel JL; Aubourg P
Nature; 1993 Feb; 361(6414):726-30. PubMed ID: 8441467
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy.
Mak CM; Lam KS; Ma OC; Tso AW; Tam S
Horm Res; 2005; 63(1):1-5. PubMed ID: 15564782
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. [Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5].
Shi XR; Chen YC; Xie WH; Huang MF; Hou XJ; Wang N
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb; 20(1):43-5. PubMed ID: 12579499
[TBL] [Abstract][Full Text] [Related]
11. ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy.
Baarine M; Beeson C; Singh A; Singh I
J Neurochem; 2015 May; 133(3):380-96. PubMed ID: 25393703
[TBL] [Abstract][Full Text] [Related]
12. A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination.
Strachan LR; Stevenson TJ; Freshner B; Keefe MD; Miranda Bowles D; Bonkowsky JL
Hum Mol Genet; 2017 Sep; 26(18):3600-3614. PubMed ID: 28911205
[TBL] [Abstract][Full Text] [Related]
13. A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
Kallabi F; Ben Salah G; Ben Chehida A; Tabebi M; Felhi R; Ben Turkia H; Tebib N; Keskes L; Kamoun H
Biochem Cell Biol; 2016 Jun; 94(3):265-9. PubMed ID: 27248780
[TBL] [Abstract][Full Text] [Related]
14. A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy.
Cai YN; Jiang MY; Liang CL; Peng MZ; Cheng J; Sheng HY; Fan LP; Chen XQ; Liu L
J Pediatr Endocrinol Metab; 2015 May; 28(5-6):725-9. PubMed ID: 25423669
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Amorosi CA; Treslova H; Dodelson de Kremer R; Coll MJ; Dvoráková L; Oller Ramírez AM
Hum Genet; 2010 Apr; 127(4):486. PubMed ID: 21488311
[No Abstract] [Full Text] [Related]
17. Novel
Cho YK; Lee SY; Kim SW
Endocrinol Metab (Seoul); 2020 Mar; 35(1):188-191. PubMed ID: 32207279
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Amorosi CA; Treslova H; Dodelson de Kremer R; Coll MJ; Dvoráková L; Oller Ramírez AM
Hum Genet; 2010 Apr; 127(4):486. PubMed ID: 21488262
[No Abstract] [Full Text] [Related]
20. X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Engelen M; Barbier M; Dijkstra IM; Schür R; de Bie RM; Verhamme C; Dijkgraaf MG; Aubourg PA; Wanders RJ; van Geel BM; de Visser M; Poll-The BT; Kemp S
Brain; 2014 Mar; 137(Pt 3):693-706. PubMed ID: 24480483
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]