Publications:

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Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease.

Brain : A Journal Of Neurology

Mok, Tze How TH; Nihat, Akin A; Majbour, Nour N; Sequeira, Danielle D; Holm-Mercer, Leah L; Coysh, Thomas T; Darwent, Lee L; Batchelor, Mark M; Groveman, Bradley R BR; Orrù, Christina D CD; Hughson, Andrew G AG; Heslegrave, Amanda A; Laban, Rhiannon R; Veleva, Elena E; Paterson, Ross W RW; Keshavan, Ashvini A; Schott, Jonathan J; Swift, Imogen J IJ; Heller, Carolin C; Rohrer, Jonathan D JD; Gerhard, Alexander A; Butler, Christopher C; Rowe, James B JB; Masellis, Mario M; Chapman, Miles M; Lunn, Michael P MP; Bieschke, Jan J; Jackson, Graham S GS; Zetterberg, Henrik H; Caughey, Byron B; Rudge, Peter P; Collinge, John J; Mead, Simon S

Publication Date: 2023-03-28

Variant appearance in text: PRNP: Y163X

PubMed Link: 36975162

Variant Present in the following documents:

• Main text
• awad101_supplementary_data.pdf
• awad101.pdf

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Genetic aspects of human prion diseases.

Frontiers In Neurology

Appleby, Brian S BS; Shetty, Shashirekha S; Elkasaby, Mohamed M

Publication Date: 2022

Variant appearance in text: PRNP: Y163X

PubMed Link: 36277922

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• Main text
• fneur-13-1003056.pdf

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Rapidly progressive dementia and intractable diarrhea: a teaching case report and a systematic review of cognitive impairment in Whipple's disease.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Manini, Arianna A; Querzola, Giacomo G; Lovati, Carlo C; Pantoni, Leonardo L

Publication Date: 2022-02

Variant appearance in text: PRNP: Y163X

PubMed Link: 34981284

Variant Present in the following documents:

• Main text
• 10072_2021_Article_5844.pdf

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Rapidly progressive dementia and intractable diarrhea: a teaching case report and a systematic review of cognitive impairment in Whipple's disease.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Manini, Arianna A; Querzola, Giacomo G; Lovati, Carlo C; Pantoni, Leonardo L

Publication Date: 2022-01-03

Variant appearance in text: PRNP: Y163X

PubMed Link: 34981284

Variant Present in the following documents:

• Main text
• 10072_2021_Article_5844.pdf

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Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases.

Molecular Psychiatry

Thompson, Andrew G B AGB; Anastasiadis, Prodromos P; Druyeh, Ronald R; Whitworth, Ines I; Nayak, Annapurna A; Nihat, Akin A; Mok, Tze How TH; Rudge, Peter P; Wadsworth, Jonathan D F JDF; Rohrer, Jonathan J; Schott, Jonathan M JM; Heslegrave, Amanda A; Zetterberg, Henrik H; Collinge, John J; Jackson, Graham S GS; Mead, Simon S

Publication Date: 2021-10

Variant appearance in text: CJD: Y163X

PubMed Link: 33674752

Variant Present in the following documents:

• Main text

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Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases.

Molecular Psychiatry

Thompson, Andrew G B AGB; Anastasiadis, Prodromos P; Druyeh, Ronald R; Whitworth, Ines I; Nayak, Annapurna A; Nihat, Akin A; Mok, Tze How TH; Rudge, Peter P; Wadsworth, Jonathan D F JDF; Rohrer, Jonathan J; Schott, Jonathan M JM; Heslegrave, Amanda A; Zetterberg, Henrik H; Collinge, John J; Jackson, Graham S GS; Mead, Simon S

Publication Date: 2021-03-05

Variant appearance in text: CJD: Y163X

PubMed Link: 33674752

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• Main text

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Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases.

Scientific Reports

Mok, Tze How TH; Nihat, Akin A; Luk, Connie C; Sequeira, Danielle D; Batchelor, Mark M; Mead, Simon S; Collinge, John J; Jackson, Graham S GS

Publication Date: 2021-03-04

Variant appearance in text: PRNP: Y163X

PubMed Link: 33664355

Variant Present in the following documents:

• Main text
• 41598_2021_Article_84527.pdf

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Putaminal diffusion tensor imaging measures predict disease severity across human prion diseases.

Brain Communications

Hyare, Harpreet H; De Vita, Enrico E; Porter, Marie-Claire MC; Simpson, Ivor I; Ridgway, Gerard G; Lowe, Jessica J; Thompson, Andrew A; Carswell, Chris C; Ourselin, Sebastien S; Modat, Marc M; Dos Santos Canas, Liane L; Caine, Diana D; Fox, Zoe Z; Rudge, Peter P; Collinge, John J; Mead, Simon S; Thornton, John S JS

Publication Date: 2020

Variant appearance in text: PRNP: Y163X

PubMed Link: 32954290

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• Main text
• fcaa032.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: Y163*

PubMed Link: 32560489

Variant Present in the following documents:

• Main text
• cells-09-01480.pdf

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Novel Polymorphisms and Genetic Characteristics of the Prion Protein Gene (PRNP) in Dogs-A Resistant Animal of Prion Disease.

International Journal Of Molecular Sciences

Kim, Dong-Ju DJ; Kim, Yong-Chan YC; Kim, An-Dang AD; Jeong, Byung-Hoon BH

Publication Date: 2020-06-10

Variant appearance in text: PRNP: 489C>G

PubMed Link: 32532135

Variant Present in the following documents:

• Main text

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Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process.

Neuroimage. Clinical

Canas, Liane S LS; Sudre, Carole H CH; De Vita, Enrico E; Nihat, Akin A; Mok, Tze How TH; Slattery, Catherine F CF; Paterson, Ross W RW; Foulkes, Alexander J M AJM; Hyare, Harpreet H; Cardoso, M Jorge MJ; Thornton, John J; Schott, Jonathan M JM; Barkhof, Frederik F; Collinge, John J; Ourselin, Sébastien S; Mead, Simon S; Modat, Marc M

Publication Date: 2019

Variant appearance in text: CJD: Y163X

PubMed Link: 31734530

Variant Present in the following documents:

• Main text
• main.pdf

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Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.

Neuropsychiatric Disease And Treatment

Bagyinszky, Eva E; Kang, Min Ju MJ; Pyun, Jungmin J; Giau, Vo Van VV; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019

Variant appearance in text: PRNP: Tyr163Ter

PubMed Link: 31410005

Variant Present in the following documents:

• Main text
• ndt-15-2003.pdf

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Recent Advances in Understanding Mammalian Prion Structure: A Mini Review.

Frontiers In Molecular Neuroscience

Terry, Cassandra C; Wadsworth, Jonathan D F JDF

Publication Date: 2019

Variant appearance in text: PRNP: Y163X

PubMed Link: 31338021

Variant Present in the following documents:

• Main text
• fnmol-12-00169.pdf

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The First Report of Polymorphisms and Genetic Features of the prion-like Protein Gene (PRND) in a Prion Disease-Resistant Animal, Dog.

International Journal Of Molecular Sciences

Won, Sae-Young SY; Kim, Yong-Chan YC; Kim, Kiwon K; Kim, An-Dang AD; Jeong, Byung-Hoon BH

Publication Date: 2019-03-20

Variant appearance in text: PRNP: 489C>G

PubMed Link: 30897750

Variant Present in the following documents:

• Main text
• ijms-20-01404.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: Y163*

PubMed Link: 30147320

Variant Present in the following documents:

• Main text
• ndt-14-2067.pdf

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Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein.

Acta Neuropathologica Communications

Race, Brent B; Williams, Katie K; Hughson, Andrew G AG; Jansen, Casper C; Parchi, Piero P; Rozemuller, Annemieke J M AJM; Chesebro, Bruce B

Publication Date: 2018-02-20

Variant appearance in text: CJD: Y163X

PubMed Link: 29458424

Variant Present in the following documents:

• Main text

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Prion Proteins Without the Glycophosphatidylinositol Anchor: Potential Biomarkers in Neurodegenerative Diseases.

Biomarker Insights

Kovač, Valerija V; Čurin Šerbec, Vladka V

Publication Date: 2018

Variant appearance in text: PRNP: Y163X

PubMed Link: 29449775

Variant Present in the following documents:

• Main text
• 10.1177_1177271918756648.pdf

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The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature.

Plos One

Caine, Diana D; Nihat, Akin A; Crabb, Philippa P; Rudge, Peter P; Cipolotti, Lisa L; Collinge, John J; Mead, Simon S

Publication Date: 2018

Variant appearance in text: PRNP: Y163X

PubMed Link: 29304167

Variant Present in the following documents:

• Main text
• pone.0190818.pdf

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Genetic PrP Prion Diseases.

Cold Spring Harbor Perspectives In Biology

Kim, Mee-Ohk MO; Takada, Leonel T LT; Wong, Katherine K; Forner, Sven A SA; Geschwind, Michael D MD

Publication Date: 2018-05-01

Variant appearance in text: CJD: Y163X

PubMed Link: 28778873

Variant Present in the following documents:

• Main text

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Ultrastructure and pathology of prion protein amyloid accumulation and cellular damage in extraneural tissues of scrapie-infected transgenic mice expressing anchorless prion protein.

Prion

Race, Brent B; Jeffrey, Martin M; McGovern, Gillian G; Dorward, David D; Chesebro, Bruce B

Publication Date: 2017-07-04

Variant appearance in text: CJD: Y163X

PubMed Link: 28759310

Variant Present in the following documents:

• Main text

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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: Y163X

PubMed Link: 28572272

Variant Present in the following documents:

• Main text
• jnnp-2017-315577.pdf

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Drosophila models of prionopathies: insight into prion protein function, transmission, and neurotoxicity.

Current Opinion In Genetics & Development

Fernandez-Funez, Pedro P; Sanchez-Garcia, Jonatan J; Rincon-Limas, Diego E DE

Publication Date: 2017-06

Variant appearance in text: CJD: Y163X

PubMed Link: 28415023

Variant Present in the following documents:

• Main text

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Prion disease: experimental models and reality.

Acta Neuropathologica

Brandner, Sebastian S; Jaunmuktane, Zane Z

Publication Date: 2017-02

Variant appearance in text: PRNP: Y163X

PubMed Link: 28084518

Variant Present in the following documents:

• Main text

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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: Y163X

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

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Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study.

Neuroimage. Clinical

De Vita, Enrico E; Ridgway, Gerard R GR; White, Mark J MJ; Porter, Marie-Claire MC; Caine, Diana D; Rudge, Peter P; Collinge, John J; Yousry, Tarek A TA; Jager, Hans Rolf HR; Mead, Simon S; Thornton, John S JS; Hyare, Harpreet H

Publication Date: 2017

Variant appearance in text: CJD: Y163X

PubMed Link: 27942451

Variant Present in the following documents:

• Main text
• main.pdf
• mmc4.pdf
• mmc3.pdf

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Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy.

Journal Of Alzheimer'S Disease : Jad

Fong, Jamie C JC; Rojas, Julio C JC; Bang, Jee J; Legati, Andrea A; Rankin, Katherine P KP; Forner, Sven S; Miller, Zachary A ZA; Karydas, Anna M AM; Coppola, Giovanni G; Grouse, Carrie K CK; Ralph, Jeffrey J; Miller, Bruce L BL; Geschwind, Michael D MD

Publication Date: 2017

Variant appearance in text: PRNP: Y163X

PubMed Link: 27716661

Variant Present in the following documents:

• Main text

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Quantitative EEG parameters correlate with the progression of human prion diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry

Franko, Edit E; Wehner, Tim T; Joly, Olivier O; Lowe, Jessica J; Porter, Marie-Claire MC; Kenny, Joanna J; Thompson, Andrew A; Rudge, Peter P; Collinge, John J; Mead, Simon S

Publication Date: 2016-10

Variant appearance in text: CJD: Y163X

PubMed Link: 27413165

Variant Present in the following documents:

• Main text
• jnnp-2016-313501.pdf

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The cognitive profile of prion disease: a prospective clinical and imaging study.

Annals Of Clinical And Translational Neurology

Caine, Diana D; Tinelli, Renata J RJ; Hyare, Harpreet H; De Vita, Enrico E; Lowe, Jessica J; Lukic, Ana A; Thompson, Andrew A; Porter, Marie-Claire MC; Cipolotti, Lisa L; Rudge, Peter P; Collinge, John J; Mead, Simon S

Publication Date: 2015-05

Variant appearance in text: PRNP: Y163X

PubMed Link: 26000326

Variant Present in the following documents:

• Main text
• acn30002-0548.pdf

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Late onset hereditary sensory and autonomic neuropathy with cognitive impairment associated with Y163X prion mutation.

Journal Of Neurology

Themistocleous, Andreas C AC; Kennett, Robin R; Husain, Masud M; Palace, Jacqueline J; Mead, Simon S; Bennett, David L H DL

Publication Date: 2014-11

Variant appearance in text: PRNP: Y163X

PubMed Link: 25287017

Variant Present in the following documents:

• Main text
• 415_2014_Article_7521.pdf

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Nonsense mutation in PRNP associated with clinical Alzheimer's disease.

Neurobiology Of Aging

Guerreiro, Rita R; Brás, José J; Wojtas, Aleksandra A; Rademakers, Rosa R; Hardy, John J; Graff-Radford, Neill N

Publication Date: 2014-11

Variant appearance in text: PRNP: Y163*

PubMed Link: 24958194

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• Main text

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Predictive testing for inherited prion disease: report of 22 years experience.

European Journal Of Human Genetics : Ejhg

Owen, Jane J; Beck, Jon J; Campbell, Tracy T; Adamson, Gary G; Gorham, Michele M; Thompson, Andrew A; Smithson, Sarah S; Rosser, Elizabeth E; Rudge, Peter P; Collinge, John J; Mead, Simon S

Publication Date: 2014-12

Variant appearance in text: PRNP: 489C>G

PubMed Link: 24713662

Variant Present in the following documents:

• Main text

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Gerstmann-Sträussler-Scheinker disease and "anchorless prion protein" mice share prion conformational properties diverging from sporadic Creutzfeldt-Jakob disease.

The Journal Of Biological Chemistry

Zanusso, Gianluigi G; Fiorini, Michele M; Ferrari, Sergio S; Meade-White, Kimberly K; Barbieri, Ilaria I; Brocchi, Emiliana E; Ghetti, Bernardino B; Monaco, Salvatore S

Publication Date: 2014-02-21

Variant appearance in text: CJD: Y163X

PubMed Link: 24398683

Variant Present in the following documents:

• Main text

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Unusual cerebral vascular prion protein amyloid distribution in scrapie-infected transgenic mice expressing anchorless prion protein.

Acta Neuropathologica Communications

Rangel, Alejandra A; Race, Brent B; Klingeborn, Mikael M; Striebel, James J; Chesebro, Bruce B

Publication Date: 2013-06-19

Variant appearance in text: CJD: Y163X

PubMed Link: 24252347

Variant Present in the following documents:

• Main text
• 2051-5960-1-25.pdf

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A novel prion disease associated with diarrhea and autonomic neuropathy.

The New England Journal Of Medicine

Mead, Simon S; Gandhi, Sonia S; Beck, Jon J; Caine, Diana D; Gallujipali, Dillip D; Carswell, Christopher C; Hyare, Harpreet H; Joiner, Susan S; Ayling, Hilary H; Lashley, Tammaryn T; Linehan, Jacqueline M JM; Al-Doujaily, Huda H; Sharps, Bernadette B; Revesz, Tamas T; Sandberg, Malin K MK; Reilly, Mary M MM; Koltzenburg, Martin M; Forbes, Alastair A; Rudge, Peter P; Brandner, Sebastian S; Warren, Jason D JD; Wadsworth, Jonathan D F JDF; Wood, Nicholas W NW; Holton, Janice L JL; Collinge, John J

Publication Date: 2013-11-14

Variant appearance in text:

PubMed Link: 24224623

Variant Present in the following documents:

• Main text

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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: Y163*

PubMed Link: 23966072

Variant Present in the following documents:

• Main text
• molecules-18-09451.pdf

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Squirrel monkeys (Saimiri sciureus) infected with the agent of bovine spongiform encephalopathy develop tau pathology.

Journal Of Comparative Pathology

Piccardo, P P; Cervenak, J J; Yakovleva, O O; Gregori, L L; Pomeroy, K K; Cook, A A; Muhammad, F S FS; Seuberlich, T T; Cervenakova, L L; Asher, D M DM

Publication Date: 2012-07

Variant appearance in text: PRNP: Y163X

PubMed Link: 22018806

Variant Present in the following documents:

• Main text

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Strain specific resistance to murine scrapie associated with a naturally occurring human prion protein polymorphism at residue 171.

Plos Pathogens

Striebel, James F JF; Race, Brent B; Meade-White, Kimberly D KD; LaCasse, Rachel R; Chesebro, Bruce B

Publication Date: 2011-09

Variant appearance in text: CJD: Y163X

PubMed Link: 21980292

Variant Present in the following documents:

• Main text

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Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.

Annals Of Neurology

Jayadev, Suman S; Nochlin, David D; Poorkaj, Parvoneh P; Steinbart, Ellen J EJ; Mastrianni, James A JA; Montine, Thomas J TJ; Ghetti, Bernardino B; Schellenberg, Gerard D GD; Bird, Thomas D TD; Leverenz, James B JB

Publication Date: 2011-04

Variant appearance in text: PRNP: Y163X

PubMed Link: 21416485

Variant Present in the following documents:

• Main text

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Brain-water diffusion coefficients reflect the severity of inherited prion disease.

Neurology

Hyare, H H; Wroe, S S; Siddique, D D; Webb, T T; Fox, N C NC; Stevens, J J; Collinge, J J; Yousry, T T; Thornton, J S JS

Publication Date: 2010-02-23

Variant appearance in text: PRNP: Y163X

PubMed Link: 20177119

Variant Present in the following documents:

• Main text

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Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.

Acta Neuropathologica

Jansen, Casper C; Parchi, Piero P; Capellari, Sabina S; Vermeij, Ad J AJ; Corrado, Patrizia P; Baas, Frank F; Strammiello, Rosaria R; van Gool, Willem A WA; van Swieten, John C JC; Rozemuller, Annemieke J M AJ

Publication Date: 2010-02

Variant appearance in text: PRNP: Y163X

PubMed Link: 19911184

Variant Present in the following documents:

• Main text
• 401_2009_Article_609.pdf

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