Publications:

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Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease.

Heliyon

Kai, Hideaki H; Teruya, Kenta K; Takeuchi, Atsuko A; Nakamura, Yoshikazu Y; Mizusawa, Hidehiro H; Yamada, Masahito M; Kitamoto, Tetsuyuki T

Publication Date: 2023-03

Variant appearance in text: CJD: M232R

PubMed Link: 36915552

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page

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Prion Mutations in Republic of Republic of Korea, China, and Japan.

International Journal Of Molecular Sciences

Kim, Dan Yeong DY; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-12-30

Variant appearance in text: PRNP: M232R

PubMed Link: 36614069

Variant Present in the following documents:

• Main text
• ijms-24-00625.pdf

View BVdb publication page

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Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.

International Journal Of Molecular Sciences

Matsubayashi, Taiki T; Sanjo, Nobuo N

Publication Date: 2022-12-02

Variant appearance in text: CJD: M232R

PubMed Link: 36499498

Variant Present in the following documents:

• Main text
• ijms-23-15172.pdf

View BVdb publication page

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Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome.

Journal Of Alzheimer'S Disease Reports

Kim, Eun-Joo EJ; Na, Duk L DL; Kim, Hee-Jin HJ; Park, Kyung Won KW; Lee, Jae-Hong JH; Roh, Jee Hoon JH; Kwon, Jay C JC; Yoon, Soo Jin SJ; Jung, Na-Yeon NY; Jeong, Jee Hyang JH; Jang, Jae-Won JW; Kim, Hee-Jin HJ; Park, Kee Hyung KH; Choi, Seong Hye SH; Kim, SangYun S; Park, Young Ho YH; Kim, Byeong C BC; Youn, Young Chul YC; Ki, Chang-Seok CS; Kim, Seung Hyun SH; Seo, Sang Won SW; Kim, Young-Eun YE

Publication Date: 2022

Variant appearance in text: PRNP: 695T>G; rs74315409

PubMed Link: 36447739

Variant Present in the following documents:

• Main text
• adr-6-adr220030.pdf

View BVdb publication page

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The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.

Medicina (Kaunas, Lithuania)

Won, Sae-Young SY; Kim, Yong-Chan YC; Lee, Yu-Ni YN; Park, Chan-Gyun CG; Kim, Woo-Young WY; Jeong, Byung-Hoon BH

Publication Date: 2022-07-18

Variant appearance in text: PRNP: M232R

PubMed Link: 35888666

Variant Present in the following documents:

• Main text
• medicina-58-00947.pdf

View BVdb publication page

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Neuropathology and emerging biomarkers in corticobasal syndrome.

Journal Of Neurology, Neurosurgery, And Psychiatry

Koga, Shunsuke S; Josephs, Keith A KA; Aiba, Ikuko I; Yoshida, Mari M; Dickson, Dennis W DW

Publication Date: 2022-06-13

Variant appearance in text: PRNP: M232R

PubMed Link: 35697501

Variant Present in the following documents:

• jnnp-2021-328586.pdf

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Human Prion Disorders: Review of the Current Literature and a Twenty-Year Experience of the National Surveillance Center in the Czech Republic.

Diagnostics (Basel, Switzerland)

Jankovska, Nikol N; Rusina, Robert R; Bruzova, Magdalena M; Parobkova, Eva E; Olejar, Tomas T; Matej, Radoslav R

Publication Date: 2021-10-01

Variant appearance in text: CJD: M232R

PubMed Link: 34679519

Variant Present in the following documents:

• Main text
• diagnostics-11-01821.pdf

View BVdb publication page

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The importance of ongoing international surveillance for Creutzfeldt-Jakob disease.

Nature Reviews. Neurology

Watson, Neil N; Brandel, Jean-Philippe JP; Green, Alison A; Hermann, Peter P; Ladogana, Anna A; Lindsay, Terri T; Mackenzie, Janet J; Pocchiari, Maurizio M; Smith, Colin C; Zerr, Inga I; Pal, Suvankar S

Publication Date: 2021-06

Variant appearance in text: PRNP: M232R

PubMed Link: 33972773

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges.

International Journal Of Molecular Sciences

Combi, Romina R; Salsone, Maria M; Villa, Chiara C; Ferini-Strambi, Luigi L

Publication Date: 2021-04-12

Variant appearance in text: PRNP: Met232Arg

PubMed Link: 33921279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review.

Cells

Arienti, Federica F; Lazzeri, Giulia G; Vizziello, Maria M; Monfrini, Edoardo E; Bresolin, Nereo N; Saetti, Maria Cristina MC; Picillo, Marina M; Franco, Giulia G; Di Fonzo, Alessio A

Publication Date: 2021-01-15

Variant appearance in text: PRNP: M232R

PubMed Link: 33467748

Variant Present in the following documents:

• cells-10-00171.pdf

View BVdb publication page

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Clinical and Laboratory Features of Three Rare Chinese V210I gCJD Patients.

Pathogens (Basel, Switzerland)

Xiao, Kang K; Zhou, Wei W; Gao, Li-Ping LP; Wu, Yue-Zhang YZ; Wang, Yuan Y; Chen, Cao C; Gao, Chen C; Shi, Qi Q; Dong, Xiao-Ping XP

Publication Date: 2020-09-28

Variant appearance in text: CJD: M232R

PubMed Link: 32998248

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: M232R

PubMed Link: 32560489

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: M232R

PubMed Link: 32549191

Variant Present in the following documents:

• Main text
• ijms-21-04246.pdf

View BVdb publication page

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Genetic architecture of common non-Alzheimer's disease dementias.

Neurobiology Of Disease

Guerreiro, Rita R; Gibbons, Elizabeth E; Tábuas-Pereira, Miguel M; Kun-Rodrigues, Celia C; Santo, Gustavo C GC; Bras, Jose J

Publication Date: 2020-08

Variant appearance in text: PRNP: Met232Arg

PubMed Link: 32439597

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PRNP: 695T>G; Met232Arg; rs74315409

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease.

Prion

Hayashi, Yuichi Y; Iwasaki, Yasushi Y; Waza, Masahiro M; Kato, Shinei S; Akagi, Akio A; Kimura, Akio A; Inuzuka, Takashi T; Satoh, Katsuya K; Kitamoto, Tetsuyuki T; Yoshida, Mari M; Shimohata, Takayoshi T

Publication Date: 2020-12

Variant appearance in text: CJD: M232R

PubMed Link: 32178563

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Acta Neuropathologica Communications

Orme, Tatiana T; Hernandez, Dena D; Ross, Owen A OA; Kun-Rodrigues, Celia C; Darwent, Lee L; Shepherd, Claire E CE; Parkkinen, Laura L; Ansorge, Olaf O; Clark, Lorraine L; Honig, Lawrence S LS; Marder, Karen K; Lemstra, Afina A; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Londos, Elisabet E; Zetterberg, Henrik H; Morgan, Kevin K; Troakes, Claire C; Al-Sarraj, Safa S; Lashley, Tammaryn T; Holton, Janice J; Compta, Yaroslau Y; Van Deerlin, Vivianna V; Trojanowski, John Q JQ; Serrano, Geidy E GE; Beach, Thomas G TG; Lesage, Suzanne S; Galasko, Douglas D; Masliah, Eliezer E; Santana, Isabel I; Pastor, Pau P; Tienari, Pentti J PJ; Myllykangas, Liisa L; Oinas, Minna M; Revesz, Tamas T; Lees, Andrew A; Boeve, Brad F BF; Petersen, Ronald C RC; Ferman, Tanis J TJ; Escott-Price, Valentina V; Graff-Radford, Neill N; Cairns, Nigel J NJ; Morris, John C JC; Pickering-Brown, Stuart S; Mann, David D; Halliday, Glenda G; Stone, David J DJ; Dickson, Dennis W DW; Hardy, John J; Singleton, Andrew A; Guerreiro, Rita R; Bras, Jose J

Publication Date: 2020-01-29

Variant appearance in text: PRNP: Met232Arg

PubMed Link: 31996268

Variant Present in the following documents:

• Main text
• 40478_2020_Article_879.pdf

View BVdb publication page

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Movement Disorders in Prionopathies: A Systematic Review.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Rodriguez-Porcel, Federico F; Ciarlariello, Vinícius Boaratti VB; Dwivedi, Alok K AK; Lovera, Lilia L; Da Prat, Gustavo G; Lopez-Castellanos, Ricardo R; Suri, Ritika R; Laub, Holly H; Walker, Ruth H RH; Barsottini, Orlando O; Pedroso, José Luiz JL; Espay, Alberto J AJ

Publication Date: 2019

Variant appearance in text: PRNP: M232R

PubMed Link: 31871824

Variant Present in the following documents:

• Main text

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: PRNP: 695T>G; rs74315409

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 16
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Absence of single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the prion protein gene (PRNP) in a large sampling of various chicken breeds.

Bmc Genomics

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

Publication Date: 2019-12-03

Variant appearance in text: PRNP: M232R

PubMed Link: 31795947

Variant Present in the following documents:

• Main text
• 12864_2019_Article_6315.pdf

View BVdb publication page

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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: CJD: Met232Arg

PubMed Link: 31447551

Variant Present in the following documents:

• Main text
• cia-14-1387.pdf

View BVdb publication page

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Clinical Laboratory Tests Used To Aid in Diagnosis of Human Prion Disease.

Journal Of Clinical Microbiology

Connor, Allyson A; Wang, Han H; Appleby, Brian S BS; Rhoads, Daniel D DD

Publication Date: 2019-10

Variant appearance in text: PRNP: M232R

PubMed Link: 31366689

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports

Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-06-10

Variant appearance in text: PRNP: Met232Arg

PubMed Link: 31182772

Variant Present in the following documents:

• Main text
• 41598_2019_Article_44848.pdf
• 41598_2019_44848_MOESM1_ESM.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PRNP: 695T>G; Met232Arg

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Familial Creutzfeldt-Jakob Disease with M232R Mutation Progressed Slowly like Alzheimer's Disease.

Dementia And Neurocognitive Disorders

Lee, SulKi S; Bae, Hee Won HW; Yang, YoungSoon Y

Publication Date: 2017-09

Variant appearance in text: PRNP: Met232Arg

PubMed Link: 30906378

Variant Present in the following documents:

• Main text
• dnd-16-91.pdf

View BVdb publication page

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Next Generation Sequencing Analysis in Early Onset Dementia Patients.

Journal Of Alzheimer'S Disease : Jad

Bonvicini, Cristian C; Scassellati, Catia C; Benussi, Luisa L; Di Maria, Emilio E; Maj, Carlo C; Ciani, Miriam M; Fostinelli, Silvia S; Mega, Anna A; Bocchetta, Martina M; Lanzi, Gaetana G; Giacopuzzi, Edoardo E; Ferraboli, Sergio S; Pievani, Michela M; Fedi, Virginia V; Defanti, Carlo Alberto CA; Giliani, Silvia S; , ; Frisoni, Giovanni Battista GB; Ghidoni, Roberta R; Gennarelli, Massimo M

Publication Date: 2019

Variant appearance in text: PRNP: M232R

PubMed Link: 30530974

Variant Present in the following documents:

• Main text

View BVdb publication page

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An autopsied case of MM1-type sporadic Creutzfeldt-Jakob disease with pathology of Wernicke encephalopathy.

Prion

Iwasaki, Yasushi Y; Hashimoto, Rina R; Saito, Yufuko Y; Aiba, Ikuko I; Inukai, Akira A; Akagi, Akio A; Mimuro, Maya M; Miyahara, Hiroaki H; Kitamoto, Tetsuyuki T; Yoshida, Mari M

Publication Date: 2019-01

Variant appearance in text: CJD: M232R

PubMed Link: 30409087

Variant Present in the following documents:

• Main text
• kprn-13-01-1545525.pdf

View BVdb publication page

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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: M232R

PubMed Link: 30147320

Variant Present in the following documents:

• Main text

View BVdb publication page

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PrPres deposition in the retina is a common finding of sporadic, familial and iatrogenic Creutzfeldt-Jakob diseases (CJD).

Acta Neuropathologica Communications

Takao, Masaki M; Kimura, Hiroaki H; Kitamoto, Tetsuyuki T; Mihara, Ban B

Publication Date: 2018-08-10

Variant appearance in text: CJD: M232R

PubMed Link: 30097055

Variant Present in the following documents:

• Main text
• 40478_2018_Article_582.pdf

View BVdb publication page

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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: M232R

PubMed Link: 29458424

Variant Present in the following documents:

• Main text
• 40478_2018_Article_516.pdf

View BVdb publication page

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Prion and Prion-like Diseases in Humans: Poster Abstracts.

Prion

Publication Date: 2013

Variant appearance in text: CJD: Met232Arg

PubMed Link: 29095080

Variant Present in the following documents:

• Main text
• prio-7-54.pdf

View BVdb publication page

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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: PRNP: M232R

PubMed Link: 28778873

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PRNP: 695T>G; Met232Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: M232R

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.

Case Reports In Neurological Medicine

Necpál, Ján J; Stelzer, Martin M; Koščová, Silvia S; Patarák, Michal M

Publication Date: 2016

Variant appearance in text: CJD: M232R

PubMed Link: 27803826

Variant Present in the following documents:

• Main text
• CRINM2016-4167391.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PRNP: 695T>G; M232R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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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: PRNP: M232R

PubMed Link: 27251305

Variant Present in the following documents:

• Main text
• 40249_2016_Article_143.pdf

View BVdb publication page

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Quantifying prion disease penetrance using large population control cohorts.

Science Translational Medicine

Minikel, Eric Vallabh EV; Vallabh, Sonia M SM; Lek, Monkol M; Estrada, Karol K; Samocha, Kaitlin E KE; Sathirapongsasuti, J Fah JF; McLean, Cory Y CY; Tung, Joyce Y JY; Yu, Linda P C LP; Gambetti, Pierluigi P; Blevins, Janis J; Zhang, Shulin S; Cohen, Yvonne Y; Chen, Wei W; Yamada, Masahito M; Hamaguchi, Tsuyoshi T; Sanjo, Nobuo N; Mizusawa, Hidehiro H; Nakamura, Yosikazu Y; Kitamoto, Tetsuyuki T; Collins, Steven J SJ; Boyd, Alison A; Will, Robert G RG; Knight, Richard R; Ponto, Claudia C; Zerr, Inga I; Kraus, Theo F J TF; Eigenbrod, Sabina S; Giese, Armin A; Calero, Miguel M; de Pedro-Cuesta, Jesús J; Haïk, Stéphane S; Laplanche, Jean-Louis JL; Bouaziz-Amar, Elodie E; Brandel, Jean-Philippe JP; Capellari, Sabina S; Parchi, Piero P; Poleggi, Anna A; Ladogana, Anna A; O'Donnell-Luria, Anne H AH; Karczewski, Konrad J KJ; Marshall, Jamie L JL; Boehnke, Michael M; Laakso, Markku M; Mohlke, Karen L KL; Kähler, Anna A; Chambert, Kimberly K; McCarroll, Steven S; Sullivan, Patrick F PF; Hultman, Christina M CM; Purcell, Shaun M SM; Sklar, Pamela P; van der Lee, Sven J SJ; Rozemuller, Annemieke A; Jansen, Casper C; Hofman, Albert A; Kraaij, Robert R; van Rooij, Jeroen G J JG; Ikram, M Arfan MA; Uitterlinden, André G AG; van Duijn, Cornelia M CM; , ; Daly, Mark J MJ; MacArthur, Daniel G DG

Publication Date: 2016-01-20

Variant appearance in text: PRNP: M232R

PubMed Link: 26791950

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial prion protein mutants inhibit Hrd1-mediated retrotranslocation of misfolded proteins by depleting misfolded protein sensor BiP.

Human Molecular Genetics

Peters, Sarah L SL; Déry, Marc-André MA; LeBlanc, Andrea C AC

Publication Date: 2016-03-01

Variant appearance in text: PRNP: M232R

PubMed Link: 26740554

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.

International Journal Of Molecular Sciences

Scholz, Sonja W SW; Bras, Jose J

Publication Date: 2015-10-16

Variant appearance in text: CJD: M232R

PubMed Link: 26501269

Variant Present in the following documents:

• ijms-16-24629.pdf

View BVdb publication page

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The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.

Plos One

Shi, Qi Q; Zhou, Wei W; Chen, Cao C; Zhang, Bao-Yun BY; Xiao, Kang K; Zhang, Xiu-Chun XC; Shen, Xiao-Jing XJ; Li, Qing Q; Deng, Li-Quan LQ; Dong, Jian-Hua JH; Lin, Wen-Qing WQ; Huang, Pu P; Jiang, Wei-Jia WJ; Lv, Jie J; Han, Jun J; Dong, Xiao-Ping XP

Publication Date: 2015

Variant appearance in text: PRNP: M232R

PubMed Link: 26488179

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PRNP: M232R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Comparative Study of Prions in Iatrogenic and Sporadic Creutzfeldt-Jakob Disease.

Journal Of Clinical & Cellular Immunology

Xiao, Xiangzhu X; Yuan, Jue J; Qing, Liuting L; Cali, Ignazio I; Mikol, Jacqueline J; Delisle, Marie-Bernadette MB; Uro-Coste, Emmanuelle E; Zeng, Liang L; Abouelsaad, Mai M; Gazgalis, Dimitris D; Martinez, Manuel Camacho MC; Wang, Gong-Xian GX; Brown, Paul P; Ironside, James W JW; Gambetti, Pierluigi P; Kong, Qingzhong Q; Zou, Wen-Quan WQ

Publication Date: 2014-08

Variant appearance in text: CJD: M232R

PubMed Link: 25419482

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: M232R

PubMed Link: 25333467

Variant Present in the following documents:

• Main text
• viruses-06-03875.pdf

View BVdb publication page

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