Associated Papers
Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.
Amprosi M et al.
Journal of Neurology, 2026
Clinical Vigilance in Rare Disease Management: Atypical Features Lead to Discovery of Concurrent X-linked Adrenoleukodystrophy and Cystic Fibrosis.
Taşar Ünsaçar K et al.
Journal of Child Neurology, 2026
Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark.
Videbæk CS et al.
Molecular Genetics and Metabolism, 2025
Clinical and radiological characteristics of adult-onset X-linked adrenoleukodystrophy: a Chinese cohort study and review of the literature.
Xiao H et al.
Bmc Neurology, 2025
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Al-Hamed MH et al.
Molecular Genetics & Genomic Medicine, 2025
Initial frontal lobe involvement in adult cerebral X-linked adrenoleukodystrophy.
Jiang W et al.
Acta Neurologica Belgica, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 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
A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.
Zhang Y et al.
Genes & Diseases, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
Saute JA et al.
Arquivos De Neuro-psiquiatria, 2016
ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.
Kawaguchi K et al.
Biomed Research International, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
An under-recognised cause of spastic paraparesis in middle-aged women.
Bargiela D et al.
Practical Neurology, 2014
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
Park HJ et al.
Yonsei Medical Journal, 2014
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
Niu YF et al.
Gene, 2013
Clinical manifest x-linked recessive adrenoleukodystrophy in a female.
Jack GH et al.
Case Reports in Neurological Medicine, 2013
A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers.
Cappa M et al.
Journal of Inherited Metabolic Disease, 2012
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
Pereira Fdos S et al.
Plos One, 2012
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
[Prenatal molecular diagnosis of four fetuses at high risk for X-linked adrenoleukodystrophy].
Ke LF et al.
Zhonghua Fu Chan Ke Za Zhi, 2008
Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.
Gärtner J et al.
Endocrine Research, 2002
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Kemp S et al.
Human Mutation, 2001
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.
Lira MG et al.
Human Mutation, 2000
Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
Liu LX et al.
The Journal of Biological Chemistry, 1999
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
Feigenbaum V et al.
American Journal of Human Genetics, 1996
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection.
Braun A et al.
Human Mutation, 1996