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

Carlo Masullo; Maria Gabriella Vita; Simona Gaudino; Daniela Di Giuda; Donato Sauchelli; Paolo Emilio Alboini; Emma Gangemi; Alessandra Bizzarro; Sabina Capellari; Eugenia Scaricamazza; Piero Parchi

doi:10.1007/s00415-013-7078-9

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

Carlo Masullo, Maria Gabriella Vita, Simona Gaudino, Daniela Di Giuda, Donato Sauchelli, Paolo Emilio Alboini, Emma Gangemi, Alessandra Bizzarro, Sabina Capellari, Eugenia Scaricamazza, Piero Parchi

University of Bologna

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

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.

Original language	English
Pages (from-to)	2650-2652
Number of pages	3
Journal	Journal of Neurology
Volume	2013
DOIs	https://doi.org/10.1007/s00415-013-7078-9
Publication status	Published - 2013

Keywords

CJD
Prion Protein gene
R208H-129VV haplotype

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10.1007/s00415-013-7078-9

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Masullo, C., Vita, M. G., Gaudino, S., Di Giuda, D., Sauchelli, D., Alboini, P. E., Gangemi, E., Bizzarro, A., Capellari, S., Scaricamazza, E., & Parchi, P. (2013). R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease. Journal of Neurology, 2013, 2650-2652. https://doi.org/10.1007/s00415-013-7078-9

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

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.",

keywords = "CJD, Prion Protein gene, R208H-129VV haplotype, CJD, Prion Protein gene, R208H-129VV haplotype",

author = "Carlo Masullo and Vita, {Maria Gabriella} and Simona Gaudino and {Di Giuda}, Daniela and Donato Sauchelli and Alboini, {Paolo Emilio} and Emma Gangemi and Alessandra Bizzarro and Sabina Capellari and Eugenia Scaricamazza and Piero Parchi",

year = "2013",

doi = "10.1007/s00415-013-7078-9",

language = "English",

volume = "2013",

pages = "2650--2652",

journal = "Journal of Neurology",

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T1 - R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.

AU - Masullo, Carlo

AU - Vita, Maria Gabriella

AU - Gaudino, Simona

AU - Di Giuda, Daniela

AU - Sauchelli, Donato

AU - Alboini, Paolo Emilio

AU - Gangemi, Emma

AU - Bizzarro, Alessandra

AU - Capellari, Sabina

AU - Scaricamazza, Eugenia

AU - Parchi, Piero

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

KW - CJD

KW - Prion Protein gene

KW - R208H-129VV haplotype

KW - CJD

KW - Prion Protein gene

KW - R208H-129VV haplotype

UR - http://hdl.handle.net/10807/52088

U2 - 10.1007/s00415-013-7078-9

DO - 10.1007/s00415-013-7078-9

M3 - Article

SN - 0340-5354

VL - 2013

SP - 2650

EP - 2652

JO - Journal of Neurology

JF - Journal of Neurology

ER -

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

Abstract

Keywords

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