Associated Papers
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson J et al.
International Journal of Neonatal Screening, 2021
33920672 (PubMed )
Supplement: IJNS-07-00022-s001.zip › IJNS-1144684-SI.xlsx › Supplemental_Table_-_Variants
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
Mederer T et al.
Plos Genetics, 2020
33151932 (PubMed )
Supplement: pgen.1009106.s007.pdf
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
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
An under-recognised cause of spastic paraparesis in middle-aged women.
Bargiela D et al.
Practical Neurology, 2014
Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.
Kumar N et al.
Plos One, 2011
Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.
Guimarães CP et al.
Molecular Genetics and Metabolism, 2002
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999
Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy.
Jacob R et al.
Child Neurology Open, 0
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