Publications:

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Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism.

Frontiers In Aging Neuroscience

Chen, Zhongyun Z; Ma, Jinghong J; Liu, Li L; Liu, Shuying S; Zhang, Jing J; Chu, Min M; Wang, Zhen Z; Chan, Piu P; Wu, Liyong L

Publication Date: 2022

Variant appearance in text: PRNP: V189I

PubMed Link: 35493933

Variant Present in the following documents:

• fnagi-14-830602.pdf

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Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.

Acta Neuropathologica

Baiardi, Simone S; Rossi, Marcello M; Mammana, Angela A; Appleby, Brian S BS; Barria, Marcelo A MA; Calì, Ignazio I; Gambetti, Pierluigi P; Gelpi, Ellen E; Giese, Armin A; Ghetti, Bernardino B; Herms, Jochen J; Ladogana, Anna A; Mikol, Jacqueline J; Pal, Suvankar S; Ritchie, Diane L DL; Ruf, Viktoria V; Windl, Otto O; Capellari, Sabina S; Parchi, Piero P

Publication Date: 2021-10

Variant appearance in text: CJD: V189I

PubMed Link: 34324063

Variant Present in the following documents:

• Main text
• 401_2021_Article_2350.pdf

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A seven-residue deletion in PrP leads to generation of a spontaneous prion formed from C-terminal C1 fragment of PrP.

The Journal Of Biological Chemistry

Munoz-Montesino, Carola C; Larkem, Djabir D; Barbereau, Clément C; Igel-Egalon, Angélique A; Truchet, Sandrine S; Jacquet, Eric E; Nhiri, Naïma N; Moudjou, Mohammed M; Sizun, Christina C; Rezaei, Human H; Béringue, Vincent V; Dron, Michel M

Publication Date: 2020-10-09

Variant appearance in text: CJD: V189I

PubMed Link: 32788216

Variant Present in the following documents:

• Main text

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Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

International Journal Of Molecular Sciences

Bernardi, Livia L; Bruni, Amalia C AC

Publication Date: 2019-07-23

Variant appearance in text: CJD: Val189Ile

PubMed Link: 31340582

Variant Present in the following documents:

• Main text
• ijms-20-03606.pdf

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Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.

Viruses

Rossi, Marcello M; Baiardi, Simone S; Parchi, Piero P

Publication Date: 2019-03-29

Variant appearance in text: CJD: V189I

PubMed Link: 30934971

Variant Present in the following documents:

• Main text
• viruses-11-00309.pdf

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Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.

Acta Neuropathologica Communications

Di Fede, Giuseppe G; Catania, Marcella M; Atzori, Cristiana C; Moda, Fabio F; Pasquali, Claudio C; Indaco, Antonio A; Grisoli, Marina M; Zuffi, Marta M; Guaita, Maria Cristina MC; Testi, Roberto R; Taraglio, Stefano S; Sessa, Maria M; Gusmaroli, Graziano G; Spinelli, Mariacarmela M; Salzano, Giulia G; Legname, Giuseppe G; Tarletti, Roberto R; Godi, Laura L; Pocchiari, Maurizio M; Tagliavini, Fabrizio F; Imperiale, Daniele D; Giaccone, Giorgio G

Publication Date: 2019-01-03

Variant appearance in text: PRNP: V189I

PubMed Link: 30606247

Variant Present in the following documents:

• Main text
• 40478_2018_Article_656.pdf

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Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.

Bioinformatics And Biology Insights

Kedarisetti, Kanaka Durga KD; Dick, Scott S; Kurgan, Lukasz L

Publication Date: 2008-03-12

Variant appearance in text: CJD: V189I

PubMed Link: 19812771

Variant Present in the following documents:

• Main text
• bbi-2008-133.pdf

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