Associated Papers
Use of Estonian Biobank data and participant recall to improve Wilson's disease management.
Nurm M et al.
European Journal of Human Genetics : Ejhg, 2025
Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.
Choi W et al.
Cells, 2024
Rare co-occurrence of multiple sclerosis and Wilson's disease - case report.
Despotov K et al.
Bmc Neurology, 2022
Transcranial sonography changes in heterozygotic carriers of the ATP7B gene.
Skowronska M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Eye movement abnormalities are associated with brainstem atrophy in Wilson disease.
Hanuška J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Early Onset of Wilson Disease: Diagnostic Challenges.
Wiernicka A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Geographic distribution of ATP7B mutations in Wilson disease.
Gomes A et al.
Annals of Human Biology, 2016
Multiple sclerosis in two patients with coexisting Wilson's disease.
Dzieżyc K et al.
Multiple Sclerosis and Related Disorders, 2014
Middle-aged heterozygous carriers of Wilson's disease do not present with significant phenotypic deviations related to copper metabolism.
Gromadzka G et al.
Journal of Genetics, 2010
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
Gromadzka G et al.
Clinical Genetics, 2005
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