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  1. Wilson’s Disease

    Reference work entry 2024
  2. Serum neurofilament light chain and initial severity of neurological disease predict the early neurological deterioration in Wilson’s disease

    Background

    In Wilson’s disease (WD), early neurological deterioration after treatment initiation is associated with poor outcomes; however, data on...

    Tjalf Ziemssen, Lukasz Smolinski, ... Tomasz Litwin in Acta Neurologica Belgica
    Article Open access 13 September 2022
  3. Brain microstructural abnormalities in patients with Wilson’s disease: A systematic review of diffusion tenor imaging studies

    Introduction

    Wilson’s disease (WD) is an autosomal recessive that can lead to high copper concentrations and copper accumulation in bodily organs,...

    Amirali Karimi, Soheil Mohammadi, ... Stephen R. Dager in Brain Imaging and Behavior
    Article 03 November 2022
  4. Altered microstructural pattern of the cortex and basal forebrain cholinergic system in wilson’s disease: an automated fiber quantification tractography study

    Basal forebrain (BF) cholinergic projection neurons form a highly extensive input to the cortex. Failure of BF cholinergic circuits is responsible...

    Yutong Wu, Sheng Hu, ... Hongxing Kan in Brain Imaging and Behavior
    Article 24 January 2023
  5. Sleep disturbances in newly diagnosed treatment-naïve patients with Wilson’s disease

    Introduction

    Most neurodegenerative and chronic liver disorders are associated with sleep disturbances (SD). SD may be expected to occur in patients...

    Wojciech Jernajczyk, Tomasz Litwin, ... Jan P. Bembenek in Acta Neurologica Belgica
    Article 23 March 2022
  6. Liver transplantation as a treatment for Wilson’s disease with neurological presentation: a systematic literature review

    Introduction

    Wilson’s disease (WD) is a potentially treatable, genetic disorder of copper metabolism, with survival similar to healthy populations if...

    Tomasz Litwin, Jan Bembenek, ... Anna Członkowska in Acta Neurologica Belgica
    Article Open access 26 January 2022
  7. Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China

    Background

    Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B (encoding a copper-transporting P-type...

    Shijie Zhang, Wenming Yang, ... **g Zhang in Translational Neurodegeneration
    Article Open access 28 February 2022
  8. Functional tremor in Wilson’s disease

    Nahid Olfati, Ali Shoeibi, ... Neda Ghdiri Jozan in Acta Neurologica Belgica
    Article 06 September 2021
  9. Basal ganglia-orbitofrontal circuits are associated with prospective memory deficits in Wilson’s disease

    Degenerative changes in the basal ganglia (BG) are thought to contribute to neurological symptoms in Wilson’s disease (WD). However, very little is...

    Sheng Hu, ChunSheng Xu, ... BenSheng Qiu in Brain Imaging and Behavior
    Article 23 July 2021
  10. Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population

    Carrier screening is important to people have a higher prevalence of severe recessive or X-linked genetic conditions. This study is aimed that the...

    Li Shan Chen, Cheng Wei Yu, ... Yi ** Li in Journal of Human Genetics
    Article 22 December 2023
  11. Nano-Mediated Molecular Targeting in Diagnosis and Mitigation of Wilson Disease

    Abstract

    Wilson disease, a rare genetic disorder resulting from mutations in the ATP7B gene disrupts copper metabolism, leading to its harmful...

    Akanksha Chaturvedi, Swapnil Sharma, Rahul Shukla in Molecular Neurobiology
    Article 08 December 2023
  12. Whole brain volume and cortical thickness abnormalities in Wilson’s disease: a clinical correlation study

    Wilson’s disease (WD) is an inherited autosomal recessive disorder of copper metabolism, and its neurological and neuropsychiatric manifestations are...

    Yukun Song, Lin Zou, ... Jian** Chu in Brain Imaging and Behavior
    Article 14 October 2020
  13. Mutations in the ATP7B Gene in Ukrainian Patients with High Risk of Wilson’s Disease

    Abstract

    Wilson’s disease (WD) is an autosomal recessive condition caused by an impaired copper metabolism due to hereditary mutations in the ATP7B ...

    H. Makukh, I. Hayboniuk, ... L. Gailite in Cytology and Genetics
    Article 01 July 2020
  14. Spectrum of Mutations in the ATP7B Gene in Russian Patients with Wilson’s Disease

    Abstract

    Wilson’s disease (WD) is an autosomal recessive disease caused by an excessive accumulation of copper. The molecular genetic etiology of the...

    G. M. Bayazutdinova, O. A. Shchagina, ... A. V. Polyakov in Russian Journal of Genetics
    Article 01 December 2019
  15. Adjunctive Antioxidant Therapy in Neurologic Wilson’s Disease Improves the Outcomes

    Oxidative stress has been reported in Wilson’s disease with neurological manifestation (WDNM), but there is a paucity of studies on the role of...

    Jayantee Kalita, Vijay Kumar, ... Abhay Ranjan in Journal of Molecular Neuroscience
    Article 26 November 2019
  16. A probable role of copper in the comorbidity in Wilson’s and Creutzfeldt-Jakob’s Diseases: a case report

    Background

    To the best of our knowledgedd, there is currently no case in the literature reporting the comorbidity of Wilson’s and Creutzfeldt-Jakob...

    Effrosyni Koutsouraki, Dimitrios Michmizos, ... Magda Tsolaki in Virology Journal
    Article Open access 13 March 2020
  17. Research progress and application of liver organoids for disease modeling and regenerative therapy

    The liver is a major metabolic organ of the human body and has a high incidence of diseases. In recent years, the annual incidence of liver disease...

    Yang Hu, Qiao Geng, ... Desong Kong in Journal of Molecular Medicine
    Article Open access 28 May 2024
  18. Altered large-scale functional brain networks in neurological Wilson’s disease

    Wilson’s disease patients with neurological symptoms have motor symptoms and cognitive deficits, including frontal executive, visuospatial...

    Rixing **g, Yongsheng Han, ... Yong Fan in Brain Imaging and Behavior
    Article 22 April 2019
  19. Vitamin-Based Derivatives for the Management of Alzheimer’s Disease

    Vitamins are organic compounds; they help in the regulation of many bodily functions like cell proliferation and differentiation, immunological...
    Tanmaykumar Varma, Pradnya Kamble, ... Prabha Garg in Natural Product-based Synthetic Drug Molecules in Alzheimer's Disease
    Chapter 2023
  20. SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?

    We describe a novel superoxide dismutase ( SOD1 ) mutation-associated clinical phenotype of cerebellar ataxia and motor neuron disease with a variant...

    Luca Marsili, Jennie L. Davis, ... Aleksey Porollo in The Cerebellum
    Article 09 February 2023
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