Associated Papers
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study.
Fathi M et al.
Molecular Genetics and Metabolism Reports, 2025
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Progressive Cognitive and Behavioral Changes With Leukodystrophy due to ABCD1 Gene Mutation.
Park J et al.
Dementia and Neurocognitive Disorders, 2022
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
Kim A et al.
Cerebellum (london, England), 2019
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
Chu SS et al.
World Journal of Pediatrics : Wjp, 2015
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
Pereira Fdos S et al.
Plos One, 2012
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