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  1. Article ; Online: VCP-related myopathy: a case series and a review of literature.

    Iannibelli, Eliana / Gibertini, Sara / Cheli, Marta / Blasevich, Flavia / Cavaliere, Andrea / Riolo, Giorgia / Ruggieri, Alessandra / Maggi, Lorenzo

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

    2023  Volume 42, Issue 1, Page(s) 2–13

    Abstract: The valosin-containing protein (VCP), a widely expressed protein, controls the ubiquitin-proteasome system, endolysosomal sorting, and autophagy to maintain cellular proteostasis. Frontotemporal dementia (FTD), inclusion body myopathy, and Paget's ... ...

    Abstract The valosin-containing protein (VCP), a widely expressed protein, controls the ubiquitin-proteasome system, endolysosomal sorting, and autophagy to maintain cellular proteostasis. Frontotemporal dementia (FTD), inclusion body myopathy, and Paget's disease of the bone (PDB) are all caused by dominant missense mutations in the VCP gene, which interfere with these mechanisms and cause a multisystem proteinopathy. We describe phenotypic and genetic findings of five patients with four different mutations in
    MeSH term(s) Humans ; Valosin Containing Protein/genetics ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/metabolism ; Muscular Diseases/diagnosis ; Muscular Diseases/genetics ; Muscular Diseases/metabolism ; Frontotemporal Dementia/diagnosis ; Frontotemporal Dementia/genetics ; Muscle, Skeletal/pathology ; Mutation
    Chemical Substances Valosin Containing Protein (EC 3.6.4.6) ; Cell Cycle Proteins ; VCP protein, human (EC 3.6.4.6)
    Language English
    Publishing date 2023-03-31
    Publishing country Italy
    Document type Review ; Journal Article
    ZDB-ID 2102328-1
    ISSN 2532-1900 ; 1128-2460
    ISSN (online) 2532-1900
    ISSN 1128-2460
    DOI 10.36185/2532-1900-244
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6694: Show issues Location:
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  2. Article ; Online: PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.

    Maggi, Lorenzo / Gibertini, Sara / Iannibelli, Eliana / Gallone, Annamaria / Bonanno, Silvia / Cazzato, Daniele / Gerevini, Simonetta / Moscatelli, Marco / Blasevich, Flavia / Riolo, Giorgia / Mantegazza, Renato / Ruggieri, Alessandra

    Journal of neurology

    2023  Volume 270, Issue 9, Page(s) 4538–4543

    MeSH term(s) Humans ; Muscular Diseases/diagnostic imaging ; Muscular Diseases/pathology ; Phenotype ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Perilipin-4
    Chemical Substances PLIN4 protein, human ; Perilipin-4
    Language English
    Publishing date 2023-05-05
    Publishing country Germany
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-023-11729-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Ui II Zs.40: Show issues Location:
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  3. Article ; Online: Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.

    Ruggieri, Alessandra / Naumenko, Sergey / Smith, Martin A / Iannibelli, Eliana / Blasevich, Flavia / Bragato, Cinzia / Gibertini, Sara / Barton, Kirston / Vorgerd, Matthias / Marcus, Katrin / Wang, Peixiang / Maggi, Lorenzo / Mantegazza, Renato / Dowling, James J / Kley, Rudolf A / Mora, Marina / Minassian, Berge A

    Acta neuropathologica

    2020  Volume 140, Issue 2, Page(s) 231–235

    MeSH term(s) DNA Repeat Expansion ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Myotonia Congenita/genetics ; Myotonia Congenita/pathology ; Pedigree ; Perilipin-4/genetics
    Chemical Substances PLIN4 protein, human ; Perilipin-4
    Language English
    Publishing date 2020-05-25
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1079-0
    ISSN 1432-0533 ; 0001-6322
    ISSN (online) 1432-0533
    ISSN 0001-6322
    DOI 10.1007/s00401-020-02164-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ui II Zs.188: Show issues Location:
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