Associated Papers
Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.
Dong L et al.
Italian Journal of Pediatrics, 2023
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
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
Krasemann EW et al.
Human Genetics, 1996
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Fuchs S et al.
Human Molecular Genetics, 1994
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