Associated Papers
Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark.
Videbæk CS et al.
Molecular Genetics and Metabolism, 2025
Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.
Khalfallah R et al.
Annales D'endocrinologie, 2025
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.
Liu S et al.
Molecular Genetics & Genomic Medicine, 2022
Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.
Dong B et al.
International Journal of Endocrinology, 2022
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson J et al.
International Journal of Neonatal Screening, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Adult-onset cerebral X-linked adrenoleukodystrophy presenting as obsessive-compulsive disorder.
Pinto WBVR et al.
Arquivos De Neuro-psiquiatria, 2020
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
Durmaz A et al.
Metabolic Brain Disease, 2014
Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation.
Soardi FC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.
Neumann S et al.
Genetic Testing, 2001
Mutational analysis of X-linked adrenoleukodystrophy gene.
Takano H et al.
Cell Biochemistry and Biophysics, 2000
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999