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  1. Human Sporadic Prion Diseases

    Sporadic or idiopathic prion diseases account for over 90% of all human prion diseases, and sporadic Creutzfeldt–Jakob disease (sCJD) is by far the...
    Pierluigi Gambetti, Ignazio Cali in Prions and Diseases
    Chapter 2023
  2. Analysis of Genetic Factors of Sporadic Schizophrenia in Family Trios Using Whole-Genome Sequencing

    Schizophrenia is a mental disorder, the hereditary nature of which has been confirmed by numerous studies. Currently, more than a hundred genetic...

    T. V. Andreeva, F. A. Afanasiev, ... E. I. Rogaev in Russian Journal of Genetics
    Article 01 June 2023
  3. Regulators of proteostasis are translationally repressed in fibroblasts from patients with sporadic and LRRK2-G2019S Parkinson’s disease

    Deficits in protein synthesis are associated with Parkinson’s disease (PD). However, it is not known which proteins are affected or if there are...

    Dani Flinkman, Ye Hong, ... Eleanor Coffey in npj Parkinson's Disease
    Article Open access 06 February 2023
  4. Tracking reactive astrogliosis in autosomal dominant and sporadic Alzheimer’s disease with multi-modal PET and plasma GFAP

    Background

    Plasma assays for the detection of Alzheimer’s disease neuropathological changes are receiving ever increasing interest. The concentration...

    Konstantinos Chiotis, Charlotte Johansson, ... Agneta Nordberg in Molecular Neurodegeneration
    Article Open access 12 September 2023
  5. MST1 selective inhibitor Xmu-mp-1 ameliorates neuropathological changes in a rat model of sporadic Alzheimer’s Disease by modulating Hippo-Wnt signaling crosstalk

    Alzheimer’s disease (AD), the most prevalent form of dementia, is characterized by progressive cognitive impairment accompanied by aberrant neuronal...

    Manas Ranjan Sahu, Mir Hilal Ahmad, Amal Chandra Mondal in Apoptosis
    Article 17 May 2024
  6. Associations of Reported Genetic Risk Loci with Sporadic Brain Arteriovenous Malformations: Meta-analysis

    An arteriovenous malformation (AVM) is an abnormal nidus of blood vessels that is characterized by a direct connection between arteries and veins...

    Kymbat Mukhtarova, Elena Zholdybayeva, ... Yerlan Ramankulov in Journal of Molecular Neuroscience
    Article 09 October 2022
  7. Vascular dysfunction in sporadic bvFTD: white matter hyperintensity and peripheral vascular biomarkers

    Background

    Vascular dysfunction was recently reported to be involved in the pathophysiological process of neurodegenerative diseases, but its role in...

    Min Chu, Deming Jiang, ... Liyong Wu in Alzheimer's Research & Therapy
    Article Open access 05 April 2024
  8. Peripheral inflammatory immune response differs among sporadic and familial Parkinson’s disease

    Peripheral inflammatory immune responses are thought to play a major role in the pathogenesis of Parkinson’s disease (PD). The...

    Laura Muñoz-Delgado, Daniel Macías-García, ... Pablo Mir in npj Parkinson's Disease
    Article Open access 31 January 2023
  9. A Mouse Model of Sporadic Alzheimer’s Disease with Elements of Major Depression

    After olfactory bulbectomy, animals are often used as a model of major depression or sporadic Alzheimer’s disease and, hence, the status of this...

    N. V. Bobkova, L. N. Chuvakova, ... M. B. Evgen’ev in Molecular Neurobiology
    Article 09 July 2024
  10. Transcriptomic profiling of sporadic Alzheimer’s disease patients

    Alzheimer’s disease (AD) manifested before age 65 is commonly referred to as early-onset AD (EOAD) (Reitz et al. Neurol Genet. 2020;6:e512). While...

    Andrew B. Caldwell, Balaji G. Anantharaman, ... Shankar Subramaniam in Molecular Brain
    Article Open access 12 October 2022
  11. Genetic analysis of 106 sporadic cases with hearing loss in the UAE population

    Background

    Hereditary hearing loss is a rare hereditary condition that has a significant presence in consanguineous populations. Despite its...

    Abdelaziz Tlili, Mona Mahfood, ... Jihen Chouchen in Human Genomics
    Article Open access 07 June 2024
  12. LINC complex alterations are a key feature of sporadic and familial ALS/FTD

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects motor neurons, leading to progressive muscle weakness and...

    Riccardo Sirtori, Michelle J. Gregoire, ... Claudia Fallini in Acta Neuropathologica Communications
    Article Open access 25 April 2024
  13. CDiP technology for reverse engineering of sporadic Alzheimer’s disease

    Alzheimer’s disease (AD) is a neurodegenerative disease that causes cognitive impairment for which neither treatable nor preventable approaches have...

    Takayuki Kondo, Yuichiro Yada, ... Haruhisa Inoue in Journal of Human Genetics
    Article Open access 10 June 2022
  14. Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations

    Loss of function progranulin ( GRN ) mutations are a major autosomal dominant cause of frontotemporal dementia (FTD). Patients with FTD due to GRN ...

    Skylar E. Davis, Anna K. Cook, ... Andrew E. Arrant in Acta Neuropathologica Communications
    Article Open access 28 April 2023
  15. MSC-Derived Extracellular Vesicles Alleviate NLRP3/GSDMD-Mediated Neuroinflammation in Mouse Model of Sporadic Alzheimer’s Disease

    Alzheimer’s disease (AD) is the most common neurodegenerative disease, with sporadic form being the predominant type. Neuroinflammation plays a...

    Lishan Lin, Longxin Huang, ... Zhong Pei in Molecular Neurobiology
    Article 10 January 2024
  16. Glycoform-Selective Prions in Sporadic and Genetic Variably Protease-Sensitive Prionopathies

    Unlike other human prion diseases, including the most common Creutzfeldt–Jakob disease (CJD), variably protease-sensitive prionopathy (VPSPr) is...
    Zerui Wang, Jue Yuan, ... Wen-Quan Zou in Prions and Diseases
    Chapter 2023
  17. Exendin-4 Prevents Memory Loss and Neuronal Death in Rats with Sporadic Alzheimer-Like Disease

    This study investigated the neuroprotective effects of exendin-4 (EXE-4), an analog of the glucagon-like peptide 1 receptor (GLP-1R) on memory and on...

    Adriana M. Zago, Fabiano B. Carvalho, ... Marilda da C. Fernandes in Molecular Neurobiology
    Article 03 November 2023
  18. Synaptic dysfunction and extracellular matrix dysregulation in dopaminergic neurons from sporadic and E326K-GBA1 Parkinson’s disease patients

    Parkinson’s disease (PD) is a neurodegenerative disease with both genetic and sporadic origins. In this study, we investigated the...

    Idan Rosh, Utkarsh Tripathi, ... Shani Stern in npj Parkinson's Disease
    Article Open access 19 February 2024
  19. PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer

    Current algorithms for diagnosing Lynch syndrome (LS) include multistep molecular tumor tests to distinguish LS-associated from sporadic colorectal...

    Renata L. Sandoval, Miki Horiguchi, ... Matthew B. Yurgelun in Familial Cancer
    Article 12 August 2023
  20. Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies

    Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle...

    Stefan Nicolau, Aneesha Dasgupta, ... Margherita Milone in Acta Neuropathologica Communications
    Article Open access 26 January 2023
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