Associated Papers
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study.
Fathi M et al.
Molecular Genetics and Metabolism Reports, 2025
Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience.
Kumar S et al.
The Indian Journal of Medical Research, 2025
A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.
Liu J et al.
Medicine, 2024
Initial frontal lobe involvement in adult cerebral X-linked adrenoleukodystrophy.
Jiang W et al.
Acta Neurologica Belgica, 2023
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Wu C et al.
Brain : a Journal of Neurology, 2023
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan.
Chen HA et al.
Molecular Genetics and Metabolism Reports, 2022
Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort.
Mao C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson J et al.
International Journal of Neonatal Screening, 2021
Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy.
Emamalizadeh B et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree.
Mehrpour M et al.
Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2016
The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family.
Karimzadeh P et al.
Iranian Journal of Child Neurology, 2016
The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis.
Wang XM et al.
Stem Cell Research & Therapy, 2012
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
Sheth H et al.
Neurology India, 0
Spectrum of Clinical and Imaging Characteristics of 48 X-Linked Adrenoleukodystrophy Patients: Our Experience from a University Hospital.
Bhat M et al.
Neurology India, 0