| 1 |
35479665 | Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature. | 2022 |
1 |
| 2 |
33373044 | Evolution of adrenoleukodystrophy model systems. | 2021 May |
1 |
| 3 |
34716609 | ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models. | 2021 Dec |
1 |
| 4 |
31777199 | Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy. | 2020 Jan |
1 |
| 5 |
30546814 | Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging. | 2019 Mar |
1 |
| 6 |
29557549 | [X-linked adrenoleukodystrophy with an atypical radiological pattern]. | 2018 Apr 1 |
1 |
| 7 |
27041118 | 7-Ketocholesterol is increased in the plasma of X-ALD patients and induces peroxisomal modifications in microglial cells: Potential roles of 7-ketocholesterol in the pathophysiology of X-ALD. | 2017 May |
1 |
| 8 |
28601575 | A novel mutation in ABCD1 unveils different clinical phenotypes in a family with adrenoleukodystrophy. | 2017 Sep |
2 |
| 9 |
28737695 | Predictive Structure and Topology of Peroxisomal ATP-Binding Cassette (ABC) Transporters. | 2017 Jul 22 |
1 |
| 10 |
29059709 | Microglial dysfunction as a key pathological change in adrenomyeloneuropathy. | 2017 Nov |
1 |
| 11 |
29089175 | Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy. | 2017 Dec |
1 |
| 12 |
29152099 | S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy. | 2017 Oct 20 |
2 |
| 13 |
27241966 | Endocrine Dysfunction in X-Linked Adrenoleukodystrophy. | 2016 Jun |
1 |
| 14 |
27312864 | Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history. | 2016 Oct |
1 |
| 15 |
27425035 | CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids. | 2016 Oct |
1 |
| 16 |
27779191 | 25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome. | 2016 Oct 25 |
1 |
| 17 |
26370417 | Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy. | 2015 Dec 15 |
1 |
| 18 |
26517907 | Role of family D ATP-binding cassette transporters (ABCD) in cancer. | 2015 Oct |
1 |
| 19 |
24316281 | Pathophysiology of X-linked adrenoleukodystrophy. | 2014 Mar |
1 |
| 20 |
24363066 | X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism is severely impaired in monocytes but not in lymphocytes. | 2014 May 15 |
1 |
| 21 |
24480483 | X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. | 2014 Mar |
2 |
| 22 |
23492556 | Cyclophilin D as a potential target for antioxidants in neurodegeneration: the X-ALD case. | 2013 May |
1 |
| 23 |
23768953 | Glutathione imbalance in patients with X-linked adrenoleukodystrophy. | 2013 Aug |
1 |
| 24 |
22447153 | Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation. | 2012 Nov |
1 |
| 25 |
22483867 | X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. | 2012 Sep |
1 |
| 26 |
22889154 | X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. | 2012 Aug 13 |
2 |
| 27 |
20179078 | Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. | 2010 May 15 |
1 |
| 28 |
20626743 | General aspects and neuropathology of X-linked adrenoleukodystrophy. | 2010 Jul |
1 |
| 29 |
17092750 | X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment. | 2007 Mar |
1 |
| 30 |
16949688 | X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. | 2006 Dec |
1 |
| 31 |
16223892 | Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage. | 2005 Dec 1 |
2 |
| 32 |
11748843 | ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. | 2001 Dec |
2 |
| 33 |
11063720 | Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy. | 2000 Nov 1 |
1 |
| 34 |
10551832 | Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. | 1999 Nov 12 |
1 |
| 35 |
9607414 | Retroviral transfer and long-term expression of the adrenoleukodystrophy gene in human CD34+ cells. | 1998 May 1 |
1 |