R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease

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Veröffentlicht in:Journal of neurology 2013-10, Vol.260 (10), p.2650-2652
Hauptverfasser: Vita, Maria Gabriella, Gaudino, Simona, Di Giuda, Daniela, Sauchelli, Donato, Alboini, Paolo Emilio, Gangemi, Emma, Bizzarro, Alessandra, Scaricamazza, Eugenia, Capellari, Sabina, Parchi, Piero, Masullo, Carlo
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container_title Journal of neurology
container_volume 260
creator Vita, Maria Gabriella
Gaudino, Simona
Di Giuda, Daniela
Sauchelli, Donato
Alboini, Paolo Emilio
Gangemi, Emma
Bizzarro, Alessandra
Scaricamazza, Eugenia
Capellari, Sabina
Parchi, Piero
Masullo, Carlo
description
doi_str_mv 10.1007/s00415-013-7078-9
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source MEDLINE; Springer Nature - Complete Springer Journals
subjects Akinesia
Apathy
Apraxia
Arginine - genetics
Ataxia
Brain - diagnostic imaging
Brain - pathology
Creutzfeldt-Jakob disease
Creutzfeldt-Jakob Syndrome - diagnosis
Creutzfeldt-Jakob Syndrome - genetics
Dementia
Dysarthria
Electroencephalography
Female
Genotype & phenotype
Hallucinations
Haplotypes
Histidine - genetics
Humans
Letter to the Editors
Medical imaging
Medicine
Medicine & Public Health
Middle Aged
Mutation
Neuroimaging
Neurology
Neuroradiology
Neurosciences
Paresis
Phenotype
Prions - genetics
Proteins
Radiography
Radionuclide Imaging
title R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease
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