Συγγραφείς:
Breza, M.
Hirst, J.
Chelban, V.
Banneau, G.
Tissier, L.
Kol, B.
Bourinaris, T.
Said, S.A.
Péréon, Y.
Heinzmann, A.
Debs, R.
Juntas-Morales, R.
Martinez, V.G.
Camdessanche, J.P.
Scherer-Gagou, C.
Zola, J.-M.
Athanasiou-Fragkouli, A.
Efthymiou, S.
Vavougios, G.
Velonakis, G.
Stamelou, M.
Tzartos, J.
Potagas, C.
Zambelis, T.
Mariotti, C.
Blackstone, C.
Vandrovcova, J.
Mavridis, T.
Kartanou, C.
Stefanis, L.
Wood, N.
Karadima, G.
LeGuern, E.
Koutsis, G.
Houlden, H.
Stevanin, G.
Λέξεις-κλειδιά:
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
