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

Risultato della ricerca: Contributo in rivista › Articolo › peer review

8 Citazioni (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.

Lingua originale	Inglese
pagine (da-a)	2650-2652
Numero di pagine	3
Rivista	Journal of Neurology
Volume	2013
DOI	https://doi.org/10.1007/s00415-013-7078-9
Stato di pubblicazione	Pubblicato - 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",

issn = "0340-5354",

publisher = "Springer Science and Business Media Deutschland GmbH",

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Masullo, C, Vita, MG, Gaudino, S , Di Giuda, D, Sauchelli, D, Alboini, PE, 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, vol. 2013, pagg. 2650-2652. https://doi.org/10.1007/s00415-013-7078-9

TY - JOUR

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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