Publications:

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Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.

Brain : A Journal Of Neurology

Schmitz, Matthias M; Villar-Piqué, Anna A; Hermann, Peter P; Escaramís, Geòrgia G; Calero, Miguel M; Chen, Cao C; Kruse, Niels N; Cramm, Maria M; Golanska, Ewa E; Sikorska, Beata B; Liberski, Pawel P PP; Pocchiari, Maurizio M; Lange, Peter P; Stehmann, Christiane C; Sarros, Shannon S; Martí, Eulàlia E; Baldeiras, Inês I; Santana, Isabel I; Žáková, Dana D; Mitrová, Eva E; Dong, Xiao-Ping XP; Collins, Steven S; Poleggi, Anna A; Ladogana, Anna A; Mollenhauer, Brit B; Kovacs, Gabor G GG; Geschwind, Michael D MD; Sánchez-Valle, Raquel R; Zerr, Inga I; Llorens, Franc F

Publication Date: 2022-04-18

Variant appearance in text: CJD: T188A

PubMed Link: 35288744

Variant Present in the following documents:

• Main text

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: PRNP: T188A

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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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: T188A

PubMed Link: 34324063

Variant Present in the following documents:

• Main text
• 401_2021_2350_MOESM1_ESM.pdf
• 401_2021_Article_2350.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: PRNP: T188A

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Infectious Disease Transmission in Solid Organ Transplantation: Donor Evaluation, Recipient Risk, and Outcomes of Transmission.

Transplantation Direct

White, Sarah L SL; Rawlinson, William W; Boan, Peter P; Sheppeard, Vicky V; Wong, Germaine G; Waller, Karen K; Opdam, Helen H; Kaldor, John J; Fink, Michael M; Verran, Deborah D; Webster, Angela A; Wyburn, Kate K; Grayson, Lindsay L; Glanville, Allan A; Cross, Nick N; Irish, Ashley A; Coates, Toby T; Griffin, Anthony A; Snell, Greg G; Alexander, Stephen I SI; Campbell, Scott S; Chadban, Steven S; Macdonald, Peter P; Manley, Paul P; Mehakovic, Eva E; Ramachandran, Vidya V; Mitchell, Alicia A; Ison, Michael M

Publication Date: 2019-01

Variant appearance in text: PRNP: T188A

PubMed Link: 30656214

Variant Present in the following documents:

• txd-5-e416.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: T188A

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: T188A

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

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Epidemiological characteristics of human prion diseases.

Infectious Diseases Of Poverty

Chen, Cao C; Dong, Xiao-Ping XP

Publication Date: 2016-06-02

Variant appearance in text: CJD: T188A

PubMed Link: 27251305

Variant Present in the following documents:

• Main text
• 40249_2016_Article_143.pdf

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Cyclin-dependent kinase 5 phosphorylation of familial prion protein mutants exacerbates conversion into amyloid structure.

The Journal Of Biological Chemistry

Rouget, Raphaël R; Sharma, Gyanesh G; LeBlanc, Andréa C AC

Publication Date: 2015-02-27

Variant appearance in text: PRNP: T188A

PubMed Link: 25572400

Variant Present in the following documents:

• Main text

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The structure of human prions: from biology to structural models-considerations and pitfalls.

Viruses

Acevedo-Morantes, Claudia Y CY; Wille, Holger H

Publication Date: 2014-10-20

Variant appearance in text: CJD: T188A

PubMed Link: 25333467

Variant Present in the following documents:

• Main text
• viruses-06-03875.pdf

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Small-molecule theranostic probes: a promising future in neurodegenerative diseases.

International Journal Of Cell Biology

Aulić, Suzana S; Bolognesi, Maria Laura ML; Legname, Giuseppe G

Publication Date: 2013

Variant appearance in text: CJD: T188A

PubMed Link: 24324497

Variant Present in the following documents:

• IJCB2013-150952.pdf

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Pathologic evidence that the T188R mutation in PRNP is associated with prion disease.

Journal Of Neuropathology And Experimental Neurology

Tartaglia, Maria Carmela MC; Thai, Julie N JN; See, Tricia T; Kuo, Amy A; Harbaugh, Robert R; Raudabaugh, Benjamin B; Cali, Ignazio I; Sattavat, Mamta M; Sanchez, Henry H; DeArmond, Stephen J SJ; Geschwind, Michael D MD

Publication Date: 2010-12

Variant appearance in text: PRNP: T188A

PubMed Link: 21107135

Variant Present in the following documents:

• Main text

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Human Prion disease with a T188K mutation in Chinese: a case report.

Cases Journal

Shi, Qi Q; Gao, Chen C; Zhou, Wei W; Zhang, Bao-Yun BY; Tian, Chan C; Chen, Jian-Ming JM; Jiang, Hui-Ying HY; Han, Jun J; Dong, Xiao-Ping XP

Publication Date: 2009-05-29

Variant appearance in text: CJD: T188A

PubMed Link: 19830016

Variant Present in the following documents:

• Main text

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Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies.

Journal Of Neurology

Ladogana, Anna A; Sanchez-Juan, Pascual P; Mitrová, Eva E; Green, Alison A; Cuadrado-Corrales, Natividad N; Sánchez-Valle, Raquel R; Koscova, Silvia S; Aguzzi, Adriano A; Sklaviadis, Theodoros T; Kulczycki, Jerzy J; Gawinecka, Joanna J; Saiz, Albert A; Calero, Miguel M; van Duijn, Cornelia M CM; Pocchiari, Maurizio M; Knight, Richard R; Zerr, Inga I

Publication Date: 2009-10

Variant appearance in text: CJD: T188A

PubMed Link: 19444528

Variant Present in the following documents:

• Main text

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Evidence for a pathogenic role of different mutations at codon 188 of PRNP.

Plos One

Roeber, Sigrun S; Grasbon-Frodl, Eva-Maria EM; Windl, Otto O; Krebs, Bjarne B; Xiang, Wei W; Vollmert, Caren C; Illig, Thomas T; Schröter, Andreas A; Arzberger, Thomas T; Weber, Petra P; Zerr, Inga I; Kretzschmar, Hans A HA

Publication Date: 2008-05-14

Variant appearance in text: PRNP: T188A

PubMed Link: 18478114

Variant Present in the following documents:

• Main text

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Defective retrotranslocation causes loss of anti-Bax function in human familial prion protein mutants.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Jodoin, Julie J; Laroche-Pierre, Stéphanie S; Goodyer, Cynthia G CG; LeBlanc, Andréa C AC

Publication Date: 2007-05-09

Variant appearance in text: CJD: T188A

PubMed Link: 17494694

Variant Present in the following documents:

• Main text

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Novel mutation of the PRNP gene of a clinical CJD case.

Bmc Infectious Diseases

Kotta, Konstantia K; Paspaltsis, Ioannis I; Bostantjopoulou, Sevasti S; Latsoudis, Helen H; Plaitakis, Andreas A; Kazis, Dimitrios D; Collinge, John J; Sklaviadis, Theodoros T

Publication Date: 2006-11-27

Variant appearance in text: CJD: T188A

PubMed Link: 17129366

Variant Present in the following documents:

• Main text
• 1471-2334-6-169.pdf

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