{
  "abstract": "Alexander disease (ALXDRD) is a rare astrogliopathy characterised by white matter abnormalities, ultimately leading to neurodegeneration. 1 ALXDRD patients have been classified by age of onset, MRI findings or both. The most severe form is characterised by early onset of symptoms, while the milder form is marked by later onset and slower progression.2",
  "authors": [
    {
      "affiliations": [
        "Unit of Proteomics and Mass Spectrometry, IRCCS Ospedale Policlinico San Martino, Genoa, Italy"
      ],
      "name": "Tiziana Bachetti"
    },
    {
      "affiliations": [
        "Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"
      ],
      "name": "Stefania Magri"
    },
    {
      "affiliations": [
        "Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"
      ],
      "name": "Francesca Balistreri"
    },
    {
      "affiliations": [
        "Unit of Clinical Bioinformatics, IRCCS Istituto Giannina Gaslini, Genoa, Italy"
      ],
      "name": "Francesca Rosamilia"
    },
    {
      "affiliations": [
        "Unit of Medical Oncology 2, IRCCS Ospedale Policlinico San Martino, Genoa, Italy"
      ],
      "name": "Simona Coco"
    },
    {
      "affiliations": [
        "Unit of Proteomics and Mass Spectrometry, IRCCS Ospedale Policlinico San Martino, Genoa, Italy"
      ],
      "name": "Camillo Rosano"
    },
    {
      "affiliations": [
        "Unit of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"
      ],
      "name": "Marco Moscatelli"
    },
    {
      "affiliations": [
        "Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"
      ],
      "name": "Elisa Sarto"
    },
    {
      "affiliations": [
        "Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"
      ],
      "name": "Daniela Di Bella"
    },
    {
      "affiliations": [
        "Unit of Neurodegenerative and Rare Neurometabolic Disease, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"
      ],
      "name": "Ettore Salsano"
    },
    {
      "affiliations": [
        "Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Milan, Italy"
      ],
      "name": "Isabella Ceccherini"
    },
    {
      "affiliations": [
        "Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"
      ],
      "name": "Franco Taroni"
    }
  ],
  "title": "Self-silencing GFAP missense alleles in familial subclinical Alexander disease: implications for therapy",
  "uid": "7118b87a-dd36-5665-8f63-0b6c9689fd40"
}