Publications:

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Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.

Alzheimer'S Research & Therapy

Chen, Zhongyun Z; Chu, Min M; Liu, Li L; Zhang, Jing J; Kong, Yu Y; Xie, Kexin K; Cui, Yue Y; Ye, Hong H; Li, Junjie J; Wang, Lin L; Wu, Liyong L

Publication Date: 2022-06-29

Variant appearance in text: PRNP: D167N

PubMed Link: 35768878

Variant Present in the following documents:

• Main text
• 13195_2022_Article_1033.pdf

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The Cellular Prion Protein: A Promising Therapeutic Target for Cancer.

International Journal Of Molecular Sciences

Go, Gyeongyun G; Lee, Sang Hun SH

Publication Date: 2020-12-02

Variant appearance in text: PRNP: D167N

PubMed Link: 33276687

Variant Present in the following documents:

• Main text
• ijms-21-09208.pdf

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Structural effects of the highly protective V127 polymorphism on human prion protein.

Communications Biology

Hosszu, Laszlo L P LLP; Conners, Rebecca R; Sangar, Daljit D; Batchelor, Mark M; Sawyer, Elizabeth B EB; Fisher, Stuart S; Cliff, Matthew J MJ; Hounslow, Andrea M AM; McAuley, Katherine K; Leo Brady, R R; Jackson, Graham S GS; Bieschke, Jan J; Waltho, Jonathan P JP; Collinge, John J

Publication Date: 2020-07-29

Variant appearance in text: CJD: D167N

PubMed Link: 32728168

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1126.pdf
• 42003_2020_1126_MOESM5_ESM.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: PRNP: D167N

PubMed Link: 32560489

Variant Present in the following documents:

• Main text

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First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle.

International Journal Of Molecular Sciences

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

Publication Date: 2020-06-15

Variant appearance in text: PRNP: D167N

PubMed Link: 32549191

Variant Present in the following documents:

• Main text
• ijms-21-04246.pdf

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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: D167N

PubMed Link: 30147320

Variant Present in the following documents:

• Main text
• ndt-14-2067.pdf

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A novel prion protein variant in a patient with semantic dementia.

Journal Of Neurology, Neurosurgery, And Psychiatry

Kenny, Joanna J; Woollacott, Ione I; Koriath, Carolin C; Hosszu, Laszlo L; Adamson, Gary G; Rudge, Peter P; Rossor, Martin N MN; Collinge, John J; Rohrer, Jonathan D JD; Mead, Simon S

Publication Date: 2017-10

Variant appearance in text: CJD: D167N

PubMed Link: 28572272

Variant Present in the following documents:

• Main text
• jnnp-2017-315577.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: D167N

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: PRNP: D167N

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

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Probing early misfolding events in prion protein mutants by NMR spectroscopy.

Molecules (Basel, Switzerland)

Giachin, Gabriele G; Biljan, Ivana I; Ilc, Gregor G; Plavec, Janez J; Legname, Giuseppe G

Publication Date: 2013-08-07

Variant appearance in text: PRNP: D167N

PubMed Link: 23966072

Variant Present in the following documents:

• Main text
• molecules-18-09451.pdf

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