Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China

Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect

(2021) Guo-Min Yang et al.   Genes

Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson's Disease

(2020) Yi Dong et al.   Clinical Gastroenterology and Hepatology

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease

(2020) Daniel F. Wallace et al.   HUMAN GENETICS

The Prevalence of Wilson disease. An Update

(2019) Thomas Damgaard Sandahl et al.   HEPATOLOGY

The Function of ATPase Copper Transporter ATP7B in Intestine

(2018) Hannah Pierson et al.   GASTROENTEROLOGY

Biochemical and molecular characterisation of neurological Wilson disease

(2018) Go Hun Seo et al.   JOURNAL OF MEDICAL GENETICS

The global prevalence of Wilson disease from next-generation sequencing data

(2018) Jiali Gao et al.   GENETICS IN MEDICINE

Age,sex, but not ATP7B genotype effectively influences the clinical phenotype of Wilson disease

(2018) Peter Ferenci et al.   HEPATOLOGY

Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype

(2018) Anna Kluska et al.   LIVER INTERNATIONAL

Wilson disease

(2018) Anna Członkowska et al.   Nature Reviews Disease Primers

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants

(2016) Giancarlo Chesi et al.   HEPATOLOGY

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis

(2016) Yi Dong et al.   Theranostics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Wilson disease with hepatic presentation in an eight-month-old boy

(2015) Kuerbanjiang Abuduxikuer   WORLD JOURNAL OF GASTROENTEROLOGY

EASL Clinical Practice Guidelines: Wilson’s disease

(2015)   JOURNAL OF HEPATOLOGY

Diverse Functional Properties of Wilson Disease ATP7B Variants

(2012) Dominik Huster et al.   GASTROENTEROLOGY

Localization of copper and copper transporters in the human brain

(2012) Katherine M. Davies et al.   Metallomics

Gender differences in Wilson's disease

(2011) T. Litwin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease

(2010) Uta Merle et al.   BMC GASTROENTEROLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin

(2009) Peter V. E. van den Berghe et al.   HEPATOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Late onset Wilson's disease: Therapeutic implications

(2008) Anna Członkowska et al.   MOVEMENT DISORDERS