Wilson’s disease: update on pathogenesis, biomarkers and treatments
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Title
Wilson’s disease: update on pathogenesis, biomarkers and treatments
Authors
Keywords
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Journal
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Volume 92, Issue 10, Pages 1053-1061
Publisher
BMJ
Online
2021-08-03
DOI
10.1136/jnnp-2021-326123
References
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Related references
Note: Only part of the references are listed.- Direct Measurement of ATP7B Peptides is Highly Effective in the Diagnosis of Wilson Disease
- (2021) Christopher J. Collins et al. GASTROENTEROLOGY
- Higher Concentration of Plasma Glial Fibrillary Acidic Protein in Wilson Disease Patients With Neurological Manifestations
- (2021) Jie Lin et al. MOVEMENT DISORDERS
- ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease
- (2020) Daniel F. Wallace et al. HUMAN GENETICS
- Semiquantitative Scale for Assessing Brain MRI Abnormalities in Wilson Disease: A Validation Study
- (2020) Petr Dusek et al. MOVEMENT DISORDERS
- Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease
- (2020) Aurélia Poujois et al. NEUROLOGY
- Combined sodium Dimercaptopropanesulfonate and zinc versus D-penicillamine as first-line therapy for neurological Wilson’s disease
- (2020) Jing Zhang et al. BMC Neurology
- Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties
- (2020) Shubhrajit Roy et al. Scientific Reports
- mtDNA depletion‐like syndrome in Wilson disease
- (2020) Valentina Medici et al. LIVER INTERNATIONAL
- Plasma Neurofilament Light as a Biomarker of Neurological Involvement in Wilson's Disease
- (2020) Samuel Shribman et al. MOVEMENT DISORDERS
- Pharmacoproteomics pinpoints HSP70 interaction for correction of the most frequent Wilson disease-causing mutant of ATP7B
- (2020) Mafalda Concilli et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Anterior segment optical coherence tomography (AS-OCT) as a new method of detecting copper deposits forming the Kayser-Fleischer ring in patients with Wilson disease
- (2019) Karina Broniek-Kowalik et al. ACTA OPHTHALMOLOGICA
- Comparative effectiveness of common therapies for Wilson disease: A systematic review and meta‐analysis of controlled studies
- (2019) Christian Appenzeller‐Herzog et al. LIVER INTERNATIONAL
- New tools for Wilson’s disease diagnosis: exchangeable copper fraction
- (2019) France Woimant et al. Annals of Translational Medicine
- Multiparametric Quantitative Brain MRI in Neurological and Hepatic Forms of Wilson's Disease
- (2019) Monika Dezortova et al. JOURNAL OF MAGNETIC RESONANCE IMAGING
- Characteristics of a newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson’s Disease Rating Scale
- (2018) Anna Członkowska et al. BMC Neurology
- An αB-Crystallin Peptide Rescues Compartmentalization and Trafficking Response to Cu Overload of ATP7B-H1069Q, the Most Frequent Cause of Wilson Disease in the Caucasian Population
- (2018) Simona Allocca et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Biopolymer strategy for the treatment of Wilson's disease
- (2018) Miroslav Vetrik et al. JOURNAL OF CONTROLLED RELEASE
- Animal models of Wilson disease
- (2018) Emily Reed et al. JOURNAL OF NEUROCHEMISTRY
- Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease
- (2018) Anna Członkowska et al. LIVER INTERNATIONAL
- The exceptional sensitivity of brain mitochondria to copper
- (2018) Sabine Borchard et al. TOXICOLOGY IN VITRO
- Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells
- (2018) Silvia Parisi et al. Scientific Reports
- 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
- Selective vulnerability in neurodegenerative diseases
- (2018) Hongjun Fu et al. NATURE NEUROSCIENCE
- Exchangeable copper: a reflection of the neurological severity in Wilson's disease
- (2016) A. Poujois et al. EUROPEAN JOURNAL OF NEUROLOGY
- Methanobactin reverses acute liver failure in a rat model of Wilson disease
- (2016) Josef Lichtmannegger et al. JOURNAL OF CLINICAL INVESTIGATION
- Long-term metabolic correction of Wilson’s disease in a murine model by gene therapy
- (2016) Oihana Murillo et al. JOURNAL OF HEPATOLOGY
- Brain iron accumulation in Wilson disease: a post mortem 7 Tesla MRI - histopathological study
- (2016) P. Dusek et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- Early neurological worsening in patients with Wilson's disease
- (2015) Tomasz Litwin et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Delay in Diagnosis of Wilson Disease in Children With Insidious Psychiatric Symptoms: A Case Report and Review of the Literature
- (2015) Hun Millard et al. PSYCHOSOMATICS
- Population screening for Wilson's disease
- (2014) Si Houn Hahn Annals of the New York Academy of Sciences
- Epidemiology of Wilson's disease in Ireland
- (2014) Margaret O'Brien et al. MOVEMENT DISORDERS
- A genetic study of Wilson’s disease in the United Kingdom
- (2013) Alison J. Coffey et al. BRAIN
- Copper Block of Extrasynaptic GABAA Receptors in the Mature Cerebellum and Striatum
- (2013) T. P. McGee et al. JOURNAL OF NEUROSCIENCE
- Brain metal accumulation in Wilson's disease
- (2013) T. Litwin et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- The effect of gender on brain MRI pathology in Wilson’s disease
- (2013) T. Litwin et al. METABOLIC BRAIN DISEASE
- Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis
- (2013) Jonathon Telianidis et al. Frontiers in Aging Neuroscience
- 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
- Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease
- (2011) Hans Zischka et al. JOURNAL OF CLINICAL INVESTIGATION
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