The phenotype and the neuroimaging of a patient affected by a genetic CJD has been described in relation to the R208H-129VV haplotype detected in the prion protein gene analysis.
Masullo, C., Vita, M. G., Gaudino, S., Di Giuda, D., Sauchelli, D., Alboini, P. E., Gangemi, E., Bizzarro, A., Scaricamazza, E., Capellari, S., Parchi, P., R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease., <<JOURNAL OF NEUROLOGY>>, 2013; 2013 (260 (10)): 2650-2652. [doi:10.1007/s00415-013-7078-9] [http://hdl.handle.net/10807/52088]
R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.
Masullo, Carlo;Vita, Maria Gabriella;Gaudino, Simona;Di Giuda, Daniela;Sauchelli, Donato;Alboini, Paolo Emilio;Gangemi, Emma;Bizzarro, Alessandra;Scaricamazza, Eugenia;
2013
Abstract
The phenotype and the neuroimaging of a patient affected by a genetic CJD has been described in relation to the R208H-129VV haplotype detected in the prion protein gene analysis.
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