@article{2997184,
    title = "Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease",
    author = "Breza, M. and Hirst, J. and Chelban, V. and Banneau, G. and Tissier, L. and Kol, B. and Bourinaris, T. and Said, S.A. and Péréon, Y. and Heinzmann, A. and Debs, R. and Juntas-Morales, R. and Martinez, V.G. and Camdessanche, J.P. and Scherer-Gagou, C. and Zola, J.-M. and Athanasiou-Fragkouli, A. and Efthymiou, S. and Vavougios, G. and Velonakis, G. and Stamelou, M. and Tzartos, J. and Potagas, C. and Zambelis, T. and Mariotti, C. and Blackstone, C. and Vandrovcova, J. and Mavridis, T. and Kartanou, C. and Stefanis, L. and Wood, N. and Karadima, G. and LeGuern, E. and Koutsis, G. and Houlden, H. and Stevanin, G.",
    journal = "Movement Disorders",
    year = "2021",
    volume = "36",
    number = "4",
    pages = "1034-1038",
    publisher = "John Wiley and Sons Inc",
    issn = "0885-3185, 1531-8257",
    doi = "10.1002/mds.28487",
    keywords = "ap5z1 protein;  early endosome antigen 1;  lysosome associated membrane protein 1;  peptides and proteins;  unclassified drug, allele;  autophagy (cellular);  autosomal recessive disorder;  basal ganglion;  brain disease;  case control study;  clinical article;  cognitive defect;  controlled study;  corpus callosum;  disease duration;  disease exacerbation;  endosome;  England;  evidence based practice;  fibroblast;  follow up;  gene mutation;  genetic association;  genetic variability;  genotype;  giant axonal neuropathy;  hearing impairment;  hereditary motor sensory neuropathy;  human;  human cell;  late onset disorder;  Letter;  leukoencephalopathy;  limited mobility;  lysosome;  molecular genetics;  molecular pathology;  mutational analysis;  neuroimaging;  nuclear magnetic resonance imaging;  phenotype;  priority journal;  seizure;  spastic paraplegia;  spastic paraplegia 48;  spasticity;  urine incontinence;  visual impairment;  clinical trial;  genetics;  hereditary motor sensory neuropathy;  multicenter study;  mutation;  pedigree;  rare disease, Humans;  Mutation;  Pedigree;  Phenotype;  Rare Diseases;  Spastic Paraplegia, Hereditary"
}