Publications:

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Genetic and Epigenetic Constructs of Progressive Supranuclear Palsy.

Annals Of Neurosciences

Debnath, Monojit M; Dey, Saikat S; Sreenivas, Nikhitha N; Pal, Pramod Kumar PK; Yadav, Ravi R

Publication Date: 2022-04

Variant appearance in text: CJD: E200G

PubMed Link: 36419517

Variant Present in the following documents:

• 10.1177_09727531221089396.pdf

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Characteristics of Different Types of Prion Diseases - China's Surveillance.

China Cdc Weekly

Shi, Qi Q; Chen, Cao C; Xiao, Kang K; Zhou, Wei W; Gao, Chen C; Gao, Liping L; Han, Jun J; Wang, Jichun J; Dong, Xiaoping X

Publication Date: 2022-08-19

Variant appearance in text: CJD: E200G

PubMed Link: 36285115

Variant Present in the following documents:

• ccdcw-4-33-723.pdf

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Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.

Prion

Shan, Yuheng Y; Zhang, Jiatang J; Cen, Yuying Y; Xu, Xiaojiao X; Tan, Ruishu R; Zhao, Jiahua J; Yu, Shengyuan S

Publication Date: 2022-12

Variant appearance in text: CJD: E200G

PubMed Link: 35130121

Variant Present in the following documents:

• KPRN_16_2031719.pdf

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Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.

Prion

Shan, Yuheng Y; Zhang, Jiatang J; Cen, Yuying Y; Xu, Xiaojiao X; Tan, Ruishu R; Zhao, Jiahua J; Yu, Shengyuan S

Publication Date: 2022-12

Variant appearance in text: CJD: E200G

PubMed Link: 35130121

Variant Present in the following documents:

• KPRN_16_2031719.pdf

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Genetic Creutzfeldt-Jakob disease shows fatal family insomnia phenotype.

Prion

Chen, Bin B; Zhang, Shan S; Xiao, Ying Y; Wu, Yingman Y; Tang, Weiting W; Yan, Limin L; Zhang, Zhengxue Z; Qin, Shengquan S; Dai, Mingming M; You, Yong Y

Publication Date: 2021-12

Variant appearance in text: CJD: E200G

PubMed Link: 34486485

Variant Present in the following documents:

• Main text
• KPRN_15_1968291.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: E200G

PubMed Link: 34324063

Variant Present in the following documents:

• Main text
• 401_2021_Article_2350.pdf

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Two distinct conformers of PrPD type 1 of sporadic Creutzfeldt-Jakob disease with codon 129VV genotype faithfully propagate in vivo.

Acta Neuropathologica Communications

Cali, Ignazio I; Espinosa, Juan Carlos JC; Nemani, Satish K SK; Marin-Moreno, Alba A; Camacho, Manuel V MV; Aslam, Rabail R; Kitamoto, Tetsuyuki T; Appleby, Brian S BS; Torres, Juan Maria JM; Gambetti, Pierluigi P

Publication Date: 2021-03-25

Variant appearance in text: CJD: E200G

PubMed Link: 33766126

Variant Present in the following documents:

• 40478_2021_Article_1132.pdf

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Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Cells

Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH

Publication Date: 2020-06-17

Variant appearance in text: CJD: E200G

PubMed Link: 32560489

Variant Present in the following documents:

• Main text
• cells-09-01480.pdf

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Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Yang, YoungSoon Y; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019

Variant appearance in text: PRNP: Glu200Gly

PubMed Link: 31447551

Variant Present in the following documents:

• Main text
• cia-14-1387.pdf

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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: Glu200Gly

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: E200G

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: CJD: E200G

PubMed Link: 30606247

Variant Present in the following documents:

• 40478_2018_Article_656.pdf

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Recent advances in the histo-molecular pathology of human prion disease.

Brain Pathology (Zurich, Switzerland)

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

Publication Date: 2019-03

Variant appearance in text: CJD: E200G

PubMed Link: 30588685

Variant Present in the following documents:

• Main text

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Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Neuropsychiatric Disease And Treatment

Bagyinszky, Eva E; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: CJD: E200G

PubMed Link: 30147320

Variant Present in the following documents:

• Main text
• ndt-14-2067.pdf

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Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD

Publication Date: 2017-01

Variant appearance in text: PRNP: E200G

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

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Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases.

Acta Neuropathologica Communications

Kim, Mee-Ohk MO; Cali, Ignazio I; Oehler, Abby A; Fong, Jamie C JC; Wong, Katherine K; See, Tricia T; Katz, Jonathan S JS; Gambetti, Pierluigi P; Bettcher, Brianne M BM; Dearmond, Stephen J SJ; Geschwind, Michael D MD

Publication Date: 2013-12-12

Variant appearance in text: CJD: E200G

PubMed Link: 24330864

Variant Present in the following documents:

• Main text
• 2051-5960-1-80.pdf

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