TY - JOUR
TI - Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease
AU - Breza, M.
AU - Hirst, J.
AU - Chelban, V.
AU - Banneau, G.
AU - Tissier, L.
AU - Kol, B.
AU - Bourinaris, T.
AU - Said, S.A.
AU - Péréon, Y.
AU - Heinzmann, A.
AU - Debs, R.
AU - Juntas-Morales, R.
AU - Martinez, V.G.
AU - Camdessanche, J.P.
AU - Scherer-Gagou, C.
AU - Zola, J.-M.
AU - Athanasiou-Fragkouli, A.
AU - Efthymiou, S.
AU - Vavougios, G.
AU - Velonakis, G.
AU - Stamelou, M.
AU - Tzartos, J.
AU - Potagas, C.
AU - Zambelis, T.
AU - Mariotti, C.
AU - Blackstone, C.
AU - Vandrovcova, J.
AU - Mavridis, T.
AU - Kartanou, C.
AU - Stefanis, L.
AU - Wood, N.
AU - Karadima, G.
AU - LeGuern, E.
AU - Koutsis, G.
AU - Houlden, H.
AU - Stevanin, G.
JO - Movement Disorders
PY - 2021
VL - 36
TODO - 4
SP - 1034-1038
PB - John Wiley and Sons Inc
SN - 0885-3185, 1531-8257
TODO - 10.1002/mds.28487
TODO - 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
TODO - null
ER -