Associated Papers
Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.
Akbulut S et al.
Diagnostics (basel, Switzerland), 2025
Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.
Grech L et al.
Molecular Genetics & Genomic Medicine, 2025
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Klippel C et al.
International Journal of Neonatal Screening, 2025
Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel.
Orenstein N et al.
Gene, 2023
Wilson's Disease-Genetic Puzzles with Diagnostic Implications.
Gromadzka G et al.
Diagnostics (basel, Switzerland), 2023
Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.
Song D et al.
Human Molecular Genetics, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
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
Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
Shim JO et al.
Journal of Korean Medical Science, 2018
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
The Challenges of Diagnosing and Following Wilson Disease in the Presence of Proteinuria.
Khan S et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Laser ablation inductively coupled plasma mass spectrometry imaging of metals in experimental and clinical Wilson's disease.
Boaru SG et al.
Journal of Cellular and Molecular Medicine, 2015
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Squitti R et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
Lee BH et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2011
Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.
Bruha R et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2011
Molecular pathology of Wilson's disease: a brief.
Lalioti V et al.
Journal of Hepatology, 2010
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
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
van den Berghe PV et al.
Hepatology (baltimore, Md.), 2009
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
Loudianos G et al.
Journal of Medical Genetics, 1999