Associated Papers
Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.
Carretero-Vilarroig L et al.
European Journal of Neurology, 2026
Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5-Year Update.
Rayannavar A et al.
American Journal of Medical Genetics. Part A, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Innovative tree-based method for sampling molecular conformations: exploring the ATP-binding cassette subfamily D member 1 (ABCD1) transporter as a case study.
Haschka T et al.
Frontiers in Molecular Biosciences, 2024
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
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 2022
35676282 (PubMed )
Supplement: 41467_2022_30974_MOESM1_ESM.pdf
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
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
Lachtermacher MB et al.
Human Mutation, 2000
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