214 related articles for article (PubMed ID: 20228476)
1. Intra familial phenotypical variations in adrenoleukodystrophy.
Gosalakkal J; Balky AP
Neurol India; 2010; 58(1):109-11. PubMed ID: 20228476
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
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. 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]
7. 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]
8. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.
Berger J; Gärtner J
Biochim Biophys Acta; 2006 Dec; 1763(12):1721-32. PubMed ID: 16949688
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy.
Schönberger S; Roerig P; Schneider DT; Reifenberger G; Göbel U; Gärtner J
Arch Neurol; 2007 May; 64(5):651-7. PubMed ID: 17353371
[TBL] [Abstract][Full Text] [Related]
11. Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice.
Forss-Petter S; Werner H; Berger J; Lassmann H; Molzer B; Schwab MH; Bernheimer H; Zimmermann F; Nave KA
J Neurosci Res; 1997 Dec; 50(5):829-43. PubMed ID: 9418970
[TBL] [Abstract][Full Text] [Related]
12. Pathophysiology of X-linked adrenoleukodystrophy.
Berger J; Forss-Petter S; Eichler FS
Biochimie; 2014 Mar; 98(100):135-42. PubMed ID: 24316281
[TBL] [Abstract][Full Text] [Related]
13. Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency.
Dumser M; Bauer J; Lassmann H; Berger J; Forss-Petter S
Acta Neuropathol; 2007 Dec; 114(6):573-86. PubMed ID: 17828604
[TBL] [Abstract][Full Text] [Related]
14. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Wang Y; Busin R; Reeves C; Bezman L; Raymond G; Toomer CJ; Watkins PA; Snowden A; Moser A; Naidu S; Bibat G; Hewson S; Tam K; Clarke JT; Charnas L; Stetten G; Karczeski B; Cutting G; Steinberg S
Mol Genet Metab; 2011; 104(1-2):160-6. PubMed ID: 21700483
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. [X-linked adrenoleukodystrophy].
Aubourg P
Ann Endocrinol (Paris); 2007 Dec; 68(6):403-11. PubMed ID: 17532287
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.
Pujol A; Ferrer I; Camps C; Metzger E; Hindelang C; Callizot N; Ruiz M; Pàmpols T; Giròs M; Mandel JL
Hum Mol Genet; 2004 Dec; 13(23):2997-3006. PubMed ID: 15489218
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]