Bakolas, Alexandra ; Service de Neurologie, CHU-Charleroi, Charleroi, Belgium
Manto, Mario ; Université de Mons - UMONS > Faculté de Médecine et de Pharmacie > Service de Neurosciences ; Service de Neurologie, CHU-Charleroi, Charleroi, Belgium
Maystadt, Isabelle; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium ; URPHyM, Faculté de Médecine, Université de Namur, Namur, Belgium
Surin, Mathieu ; Université de Mons - UMONS > Faculté des Sciences > Service de Chimie des matériaux nouveaux
Language :
English
Title :
A Novel PRNP Gene Mutation Associated with Gerstmann-Sträussler-Scheinker Syndrome.
Ghetti B, Piccardo P, Zanusso G. Dominantly inherited prion protein cerebral amyloidoses – a modern view of Gerstmann–Sträussler–Scheinker. In: Handbook of Clinical Neurology. Vol. 153. Elsevier; 2018:243–269.
Chen Z, Kong Y, Zhang J, Zou WQ, Wu L. Genetic and pathological features encipher the phenotypic heterogeneity of Gerstmann-Sträussler-Scheinker disease. Neurobiol Dis 2024;195:106497.
Bagyinszky E, Giau VV, Youn YC, An SSA, Kim S. Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases. Neuropsychiatr Dis Treat 2018;14:2067–2085.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17(5):405–424.
Zahn R, Liu A, Lührs T, et al. NMR solution structure of the human prion protein. Proc Natl Acad Sci U S A 2000;97(1):145–150.
