Associated Papers
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
40980162 (PubMed )
Supplement: mmc1.pdf
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 2025
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.
Lao TD et al.
Biomarker Insights, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
31059521 (PubMed )
Supplement: pone.0215779.s001.pdf
Unusual osseous presentation of Wilson disease in a child.
Almes M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017
Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.
Wilcox RA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease.
Keandaungjuntr J et al.
Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 2011
Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease.
Barada K et al.
Journal of Clinical Gastroenterology, 2010
Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.
Pendlebury ST et al.
Neurology, 2004
[GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems].
Le Coz P et al.
Revue Neurologique, 1994
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