ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

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2. Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia
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3. Genotype and Protein Expression After Bone Marrow Transplantation for Adrenoleukodystrophy
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5. Predictive Structure and Topology of Peroxisomal ATP-Binding Cassette (ABC) Transporters
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7. Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia
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8. Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose
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9. CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy
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10. X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies
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11. Evaluation of Therapy of X-Linked Adrenoleukodystrophy
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12. Effect of dehydroepiandrosterone supplementation on fatty acid and hormone levels in patients with X‐linked adrenoleucodystrophy
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15. Leukodystrophies
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17. Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis
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18. X-linked Adrenoleukodystrophy
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21. A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein
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22. X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients
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23. Leukodystrophy: Basic and Clinical
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24. ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis
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25. ABCD2 Is a Direct Target of β-Catenin and TCF-4: Implications for X-Linked Adrenoleukodystrophy Therapy
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26. The multicellular interplay of microglia in health and disease: lessons from leukodystrophy
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27. The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy
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29. X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
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32. ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy
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33. Adrenomyeloneuropathy in Patients with ‘Addison's Disease’: Genetic Case Analysis
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34. From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy
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35. Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature
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36. Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient
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37. Downregulation of ABCD1 in Human Renal Cell Carcinoma
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38. An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree
    Masoud Mehrpour, Faeze Gohari · 2016 · Journal of Molecular and Genetic Medicine
39. Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy
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40. Retracted : Identification of seven novel mutations in ABCD1 by a DHPLC‐based assay in Italian patients with X‐linked adrenoleukodystrophy
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44. Mutational Analyses of Taiwanese Kindred With X-linked Adrenoleukodystrophy
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45. Early recognition of patients with leukodystrophies
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46. Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
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49. Epigenetic Reader Bromodomain Containing Protein 2 Facilitates Pathological Cardiac Hypertrophy via Regulating the Expression of Citrate Cycle Genes
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50. Three Novel Variants in X-linked Adrenoleukodystrophy
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51. A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report
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56. Clinical characteristics and phenotype distribution in 10 Chinese patients with X‑linked adrenoleukodystrophy
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57. Late onset adrenoleukodystrophy: A review related clinical case report
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81. iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations
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