Associated Papers
Late-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis.
Sequeira S et al.
Cureus, 2025
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study.
Fathi M et al.
Molecular Genetics and Metabolism Reports, 2025
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Initial frontal lobe involvement in adult cerebral X-linked adrenoleukodystrophy.
Jiang W et al.
Acta Neurologica Belgica, 2023
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Bowling KM et al.
Genome Medicine, 2022
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 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
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
A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.
Zhang Y et al.
Genes & Diseases, 2021
Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies
Ryalls MR et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.
Luo WJ et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy.
Li J et al.
Bmc Neurology, 2019
Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.
Chen YJ et al.
Parkinsonism & Related Disorders, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy.
Kumar N et al.
Journal of Genetics, 2010
Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.
Kelly L et al.
Protein Science : a Publication of the Protein Society, 2010
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
[Avoiding the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy by double amplification refractory mutation system].
Wang ZH et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
X-linked adrenoleukodystrophy with olivopontocerebellar atrophy.
Vianello M et al.
European Journal of Neurology, 2005
[X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].
Pan H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Kemp S et al.
Human Mutation, 2001
Predicted structures of two proteins involved in human diseases.
Zhou HX et al.
Cell Biochemistry and Biophysics, 2001
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999
Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.
Korenke GC et al.
European Journal of Endocrinology, 1997
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
Krasemann EW et al.
Human Genetics, 1996
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
Ligtenberg MJ et al.
American Journal of Human Genetics, 1995
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
Fanen P et al.
The Journal of Clinical Investigation, 1994