Publications:

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Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt-Jakob Disease.

Viruses

Kong, Yu Y; Chen, Zhongyun Z; Zhang, Jing J; Wang, Xue X; Wu, Liyong L

Publication Date: 2023-04-29

Variant appearance in text: CJD: E200K

PubMed Link: 37243178

Variant Present in the following documents:

• Main text
• viruses-15-01092.pdf

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Spectrum and Pattern of Movement Disorders in Patients with Sporadic Creutzfeldt-Jakob Disease.

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

Gurram, Sandeep S; Holla, Vikram V VV; Sharma, Praveen P; Kamble, Nitish N; Saini, Jitender J; Netravathi, Manjunath M; Yadav, Ravi R; Pal, Pramod Kumar PK

Publication Date: 2023

Variant appearance in text: CJD: E200K

PubMed Link: 37152622

Variant Present in the following documents:

• tohm-13-1-753.pdf

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The natural history study of preclinical genetic Creutzfeldt-Jakob Disease (CJD): a prospective longitudinal study protocol.

Bmc Neurology

Noa, Bregman B; Tamara, Shiner S; Gitit, Kavé K; Roy, Alcalay A; Mali, Gana-Weisz GW; Orly, Goldstein G; Tal, Glinka G; Orna, Aizenstein A; Dafna, Ben Bashat BB; Yifat, Alcalay A; Anat, Mirelman M; Avner, Thaler T; Nir, Giladi G; Nurit, Omer O

Publication Date: 2023-04-14

Variant appearance in text: PRNP: E200K; rs28933385

PubMed Link: 37069531

Variant Present in the following documents:

• Main text
• 12883_2023_Article_3193.pdf

View BVdb publication page

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Case report: Two clusters of Creutzfeldt-Jakob disease cases within 1 year in West Michigan.

Frontiers In Neurology

Rong, Ling Ling LL; Lannen, Nicholas J NJ; Tank, Evan C EC; Feistel, Jessica L JL; Therasse, Christopher J CJ; Potluri, Anvita A; Khan, Muhib M; Min, Jiangyong J

Publication Date: 2023

Variant appearance in text: PRNP: E200K

PubMed Link: 37021286

Variant Present in the following documents:

• fneur-14-1134225.pdf

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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: CJD: E200k

PubMed Link: 36975162

Variant Present in the following documents:

• Main text
• awad101_supplementary_data.pdf
• awad101.pdf

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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: E200K

PubMed Link: 36915552

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: PRNP: E200K

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Altered energy metabolism in Fatal Familial Insomnia cerebral organoids is associated with astrogliosis and neuronal dysfunction.

Plos Genetics

Foliaki, Simote T ST; Smith, Anna A; Schwarz, Benjamin B; Bohrnsen, Eric E; Bosio, Catharine M CM; Williams, Katie K; Orrú, Christina D CD; Lachenauer, Hailey H; Groveman, Bradley R BR; Haigh, Cathryn L CL

Publication Date: 2023-01

Variant appearance in text: PRNP: E200K

PubMed Link: 36656833

Variant Present in the following documents:

• Main text
• pgen.1010565.pdf

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Application of real-time quaking-induced conversion in Creutzfeldt-Jakob disease surveillance.

Journal Of Neurology

Hermann, Peter P; Schmitz, Matthias M; Cramm, Maria M; Goebel, Stefan S; Bunck, Timothy T; Schütte-Schmidt, Julia J; Schulz-Schaeffer, Walter W; Stadelmann, Christine C; Matschke, Jakob J; Glatzel, Markus M; Zerr, Inga I

Publication Date: 2023-01-10

Variant appearance in text: CJD: E200K

PubMed Link: 36624183

Variant Present in the following documents:

• 415_2022_11549_MOESM1_ESM.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: CJD: E200K

PubMed Link: 36614069

Variant Present in the following documents:

• Main text
• ijms-24-00625.pdf

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Design and application of a customizable relational DataBase to assess clinicopathological correlations and concomitant pathology in neurodegenerative diseases.

Brain Pathology (Zurich, Switzerland)

Journe-Mallet, Isabelle I; Gouju, Julien J; Etcharry-Bouyx, Frédérique F; Chauvire, Valérie V; Guillet-Pichon, Virginie V; Scherer-Gagou, Clarisse C; Prundean, Adriana A; Godard, Sophie S; Lecluse, Aldéric A; Cassereau, Julien J; Verny, Christophe C; Letournel, Franck F; Codron, Philippe P

Publication Date: 2022-12-19

Variant appearance in text: CJD: E200K

PubMed Link: 36536531

Variant Present in the following documents:

• Main text
• BPA-33-e13138.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: E200K

PubMed Link: 36499498

Variant Present in the following documents:

• Main text
• ijms-23-15172.pdf

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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: E200K

PubMed Link: 36419517

Variant Present in the following documents:

• 10.1177_09727531221089396.pdf

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Sporadic Creutzfeldt-Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance.

Journal Of Neurology

Tam, Johnny J; Centola, John J; Kurudzhu, Hatice H; Watson, Neil N; MacKenzie, Janet J; Leitch, Margaret M; Hughes, Terri T; Green, Alison A; Summers, David D; Barria, Marcelo M; Smith, Colin C; Pal, Suvankar S

Publication Date: 2022-11-05

Variant appearance in text: CJD: E200K

PubMed Link: 36334135

Variant Present in the following documents:

• Main text
• 415_2022_Article_11467.pdf

View BVdb publication page

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Amino Acid Substitution within Seven-Octapeptide Repeat Insertions in the Prion Protein Gene Associated with Short-Term Course.

Viruses

Chen, Zhongyun Z; Nan, Haitian H; Kong, Yu Y; Chu, Min M; Liu, Li L; Zhang, Jing J; Wang, Lin L; Wu, Liyong L

Publication Date: 2022-10-13

Variant appearance in text: CJD: E200K

PubMed Link: 36298800

Variant Present in the following documents:

• Main text
• viruses-14-02245.pdf

View BVdb publication page

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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: CJD: E200K

PubMed Link: 36277922

Variant Present in the following documents:

• Main text
• fneur-13-1003056.pdf

View BVdb publication page

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A Rare Case of Histopathologically Confirmed Creutzfeldt-Jakob Disease from Romania, Long Route to Diagnosis-Case Report and an Overview of the Romanian CJD Situation.

Journal Of Clinical Medicine

Kelemen, Krisztina K; Kövecsi, Attila A; Banias, Laura L; Klára, Izolda I; Mihály, István I; Forró, Csilla C; Szász, József Attila JA; Szatmári, Szabolcs S

Publication Date: 2022-08-17

Variant appearance in text: CJD: E200K

PubMed Link: 36013055

Variant Present in the following documents:

• Main text
• jcm-11-04803.pdf

View BVdb publication page

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Genetic investigation of dementias in clinical practice.

Arquivos De Neuro-Psiquiatria

Takada, Leonel Tadao LT

Publication Date: 2022-05

Variant appearance in text: CJD: E200K

PubMed Link: 35976293

Variant Present in the following documents:

• Main text
• 1678-4227-anp-80-05-s1-s103.pdf

View BVdb publication page

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Applications of Various Types of Nanomaterials for the Treatment of Neurological Disorders.

Nanomaterials (Basel, Switzerland)

Waris, Abdul A; Ali, Asmat A; Khan, Atta Ullah AU; Asim, Muhammad M; Zamel, Doaa D; Fatima, Kinza K; Raziq, Abdur A; Khan, Muhammad Ajmal MA; Akbar, Nazia N; Baset, Abdul A; Abourehab, Mohammed A S MAS

Publication Date: 2022-06-22

Variant appearance in text: CJD: E200K

PubMed Link: 35807977

Variant Present in the following documents:

• Main text
• nanomaterials-12-02140.pdf

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Detecting early stage structural changes in wild type, pathogenic and non-pathogenic prion variants using Markov state model.

Rsc Advances

Jani, Vinod V; Sonavane, Uddhavesh U; Joshi, Rajendra R

Publication Date: 2019-05-07

Variant appearance in text: CJD: E200K

PubMed Link: 35519320

Variant Present in the following documents:

• Main text
• RA-009-C9RA01507H.pdf

View BVdb publication page

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Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage.

Cureus

Suzuki, Yutaro Y; Sugiyama, Atsuhiko A; Muto, Mayumi M; Satoh, Katsuya K; Kitamoto, Tetsuyuki T; Kuwabara, Satoshi S

Publication Date: 2022-03

Variant appearance in text: PRNP: E200K

PubMed Link: 35475058

Variant Present in the following documents:

• cureus-0014-00000023374.pdf

View BVdb publication page

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Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review.

Medicina (Kaunas, Lithuania)

Altuna, Miren M; Ruiz, Iñigo I; Zelaya, María Victoria MV; Mendioroz, Maite M

Publication Date: 2022-03-25

Variant appearance in text: CJD: E200K

PubMed Link: 35454316

Variant Present in the following documents:

• Main text
• medicina-58-00473.pdf

View BVdb publication page

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Report of a Case of Creutzfeldt-Jakob Disease With an Unusual Quick Evolution.

Cureus

Fadili, Hajar H; Tazi, Rim R; El Oury, Hiba H; El Aidaoui, Karim K; Hazim, Asmaa A

Publication Date: 2022-03

Variant appearance in text: CJD: E200K

PubMed Link: 35415036

Variant Present in the following documents:

• cureus-0014-00000022982.pdf

View BVdb publication page

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PMCA-Based Detection of Prions in the Olfactory Mucosa of Patients With Sporadic Creutzfeldt-Jakob Disease.

Frontiers In Aging Neuroscience

Cazzaniga, Federico Angelo FA; Bistaffa, Edoardo E; De Luca, Chiara Maria Giulia CMG; Portaleone, Sara Maria SM; Catania, Marcella M; Redaelli, Veronica V; Tramacere, Irene I; Bufano, Giuseppe G; Rossi, Martina M; Caroppo, Paola P; Giovagnoli, Anna Rita AR; Tiraboschi, Pietro P; Di Fede, Giuseppe G; Eleopra, Roberto R; Devigili, Grazia G; Elia, Antonio Emanuele AE; Cilia, Roberto R; Fiorini, Michele M; Bongianni, Matilde M; Salzano, Giulia G; Celauro, Luigi L; Quarta, Federico Giuseppe FG; Mammana, Angela A; Legname, Giuseppe G; Tagliavini, Fabrizio F; Parchi, Piero P; Zanusso, Gianluigi G; Giaccone, Giorgio G; Moda, Fabio F

Publication Date: 2022

Variant appearance in text: CJD: E200K

PubMed Link: 35401151

Variant Present in the following documents:

• Main text
• fnagi-14-848991.pdf

View BVdb publication page

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An Investigation on the Preconditions and Diagnosis Methods for Alien Hand Syndrome.

Cureus

Pradhan, Aakash A; Reddy, Akshay J AJ; Rajendran, Avanthika A; Nawathey, Neel N; Bachir, Mark M; Brahmbhatt, Hetal H

Publication Date: 2022-02

Variant appearance in text: CJD: E200K

PubMed Link: 35371673

Variant Present in the following documents:

• cureus-0014-00000022381.pdf

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Assessing initial MRI reports for suspected CJD patients.

Journal Of Neurology

Jesuthasan, Aaron A; Sequeira, Danielle D; Hyare, Harpreet H; Odd, Hans H; Rudge, Peter P; Mok, Tze How TH; Nihat, Akin A; Collinge, John J; Mead, Simon S

Publication Date: 2022-08

Variant appearance in text: CJD: E200K

PubMed Link: 35362733

Variant Present in the following documents:

• Main text
• 415_2022_Article_11087.pdf

View BVdb publication page

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THαβ Immunological Pathway as Protective Immune Response against Prion Diseases: An Insight for Prion Infection Therapy.

Viruses

Tsou, Adam A; Chen, Po-Jui PJ; Tsai, Kuo-Wang KW; Hu, Wan-Chung WC; Lu, Kuo-Cheng KC

Publication Date: 2022-02-17

Variant appearance in text: CJD: E200K

PubMed Link: 35216001

Variant Present in the following documents:

• Main text
• viruses-14-00408.pdf

View BVdb publication page

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Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases.

Bmc Medical Genomics

Tarozzi, M M; Bartoletti-Stella, A A; Dall'Olio, D D; Matteuzzi, T T; Baiardi, S S; Parchi, P P; Castellani, G G; Capellari, S S

Publication Date: 2022-02-10

Variant appearance in text: CJD: Glu200Lys

PubMed Link: 35144616

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1173.pdf

View BVdb publication page

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Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases.

Bmc Medical Genomics

Tarozzi, M M; Bartoletti-Stella, A A; Dall'Olio, D D; Matteuzzi, T T; Baiardi, S S; Parchi, P P; Castellani, G G; Capellari, S S

Publication Date: 2022-02-10

Variant appearance in text: CJD: Glu200Lys

PubMed Link: 35144616

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1173.pdf

View BVdb publication page

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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: PRNP: E200K

PubMed Link: 35130121

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: PRNP: E200K

PubMed Link: 35130121

Variant Present in the following documents:

• Main text

View BVdb publication page

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Survival Patterns of Human Prion Diseases in Spain, 1998-2018: Clinical Phenotypes and Etiological Clues.

Frontiers In Neuroscience

Tejedor-Romero, Laura L; López-Cuadrado, Teresa T; Almazán-Isla, Javier J; Calero, Miguel M; García López, Fernando J FJ; de Pedro-Cuesta, Jesús J

Publication Date: 2021

Variant appearance in text: CJD: E200K

PubMed Link: 35126037

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development of novel clinical examination scales for the measurement of disease severity in Creutzfeldt-Jakob disease.

Journal Of Neurology, Neurosurgery, And Psychiatry

Nihat, Akin A; Mok, Tze How TH; Odd, Hans H; Thompson, Andrew Geoffrey Bourne AGB; Caine, Diana D; McNiven, Kirsty K; O'Donnell, Veronica V; Tesfamichael, Selam S; Rudge, Peter P; Collinge, John J; Mead, Simon S

Publication Date: 2022-04

Variant appearance in text: CJD: E200K

PubMed Link: 35022318

Variant Present in the following documents:

• Main text
• jnnp-2021-327722.pdf

View BVdb publication page

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Differential Accumulation of Misfolded Prion Strains in Natural Hosts of Prion Diseases.

Viruses

Lambert, Zoe J ZJ; Greenlee, Justin J JJ; Cassmann, Eric D ED; West Greenlee, M Heather MH

Publication Date: 2021-12-07

Variant appearance in text: CJD: E200K

PubMed Link: 34960722

Variant Present in the following documents:

• Main text

View BVdb publication page

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Validation and Application of Skin RT-QuIC to Patients in China with Probable CJD.

Pathogens (Basel, Switzerland)

Xiao, Kang K; Yang, Xuehua X; Zhou, Wei W; Chen, Cao C; Shi, Qi Q; Dong, Xiaoping X

Publication Date: 2021-12-19

Variant appearance in text: CJD: E200K

PubMed Link: 34959597

Variant Present in the following documents:

• Main text

View BVdb publication page

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Validation and Application of Skin RT-QuIC to Patients in China with Probable CJD.

Pathogens (Basel, Switzerland)

Xiao, Kang K; Yang, Xuehua X; Zhou, Wei W; Chen, Cao C; Shi, Qi Q; Dong, Xiaoping X

Publication Date: 2021-12-19

Variant appearance in text: CJD: E200K

PubMed Link: 34959597

Variant Present in the following documents:

• Main text

View BVdb publication page

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Endosomal sorting drives the formation of axonal prion protein endoggresomes.

Science Advances

Chassefeyre, Romain R; Chaiamarit, Tai T; Verhelle, Adriaan A; Novak, Sammy Weiser SW; Andrade, Leonardo R LR; Leitão, André D G ADG; Manor, Uri U; Encalada, Sandra E SE

Publication Date: 2021-12-24

Variant appearance in text: PRNP: E200K

PubMed Link: 34936461

Variant Present in the following documents:

• sciadv.abg3693.pdf

View BVdb publication page

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Endosomal sorting drives the formation of axonal prion protein endoggresomes.

Science Advances

Chassefeyre, Romain R; Chaiamarit, Tai T; Verhelle, Adriaan A; Novak, Sammy Weiser SW; Andrade, Leonardo R LR; Leitão, André D G ADG; Manor, Uri U; Encalada, Sandra E SE

Publication Date: 2021-12-24

Variant appearance in text: PRNP: E200K

PubMed Link: 34936461

Variant Present in the following documents:

• sciadv.abg3693.pdf

View BVdb publication page

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COVID-19-associated encephalitis or Creutzfeldt-Jakob disease: a case report.

Neurodegenerative Disease Management

Tayyebi, Gooya G; Malakouti, Seyed Kazem SK; Shariati, Behnam B; Kamalzadeh, Leila L

Publication Date: 2021-12-02

Variant appearance in text: CJD: E200K

PubMed Link: 34854312

Variant Present in the following documents:

• Main text

View BVdb publication page

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The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt-Jakob Disease.

Cells

Kim, Yong-Chan YC; Jeong, Byung-Hoon BH

Publication Date: 2021-11-11

Variant appearance in text: CJD: E200K

PubMed Link: 34831353

Variant Present in the following documents:

• Main text
• cells-10-03132.pdf

View BVdb publication page

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Virus Infection, Genetic Mutations, and Prion Infection in Prion Protein Conversion.

International Journal Of Molecular Sciences

Hara, Hideyuki H; Sakaguchi, Suehiro S

Publication Date: 2021-11-18

Variant appearance in text: CJD: E200K

PubMed Link: 34830321

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.

Bmj Open

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

Publication Date: 2021-11-15

Variant appearance in text: PRNP: E200K

PubMed Link: 34782343

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP.

Neurology. Genetics

Thams, Sebastian S; Paucar, Martin M; Wingård, Louise L; Thonberg, Håkan H; Smith, Colin C; Nennesmo, Inger I; Svenningsson, Per P

Publication Date: 2021-12

Variant appearance in text: CJD: E200K

PubMed Link: 34746379

Variant Present in the following documents:

• Main text

View BVdb publication page

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A fatal familial insomnia patient newly diagnosed as having depression: A case report.

Medicine

Yukang, Tan T; Jiaquan, Liang L; Xiaoling, Li L; Yiliang, Liu L; Guohong, Xu X; Caixia, Xu X; Guojun, Xie X

Publication Date: 2021-10-15

Variant appearance in text: PRNP: E200K

PubMed Link: 34731156

Variant Present in the following documents:

• medi-100-e27544.pdf

View BVdb publication page

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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: PRNP: E200K

PubMed Link: 34679519

Variant Present in the following documents:

• Main text

View BVdb publication page

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Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.

Alzheimer'S Research & Therapy

Ximelis, Teresa T; Marín-Moreno, Alba A; Espinosa, Juan Carlos JC; Eraña, Hasier H; Charco, Jorge M JM; Hernández, Isabel I; Riveira, Carmen C; Alcolea, Daniel D; González-Roca, Eva E; Aldecoa, Iban I; Molina-Porcel, Laura L; Parchi, Piero P; Rossi, Marcello M; Castilla, Joaquín J; Ruiz-García, Raquel R; Gelpi, Ellen E; Torres, Juan María JM; Sánchez-Valle, Raquel R

Publication Date: 2021-10-18

Variant appearance in text: PRNP: E200K

PubMed Link: 34663460

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neuronal excitatory-to-inhibitory balance is altered in cerebral organoid models of genetic neurological diseases.

Molecular Brain

Foliaki, Simote T ST; Schwarz, Benjamin B; Groveman, Bradley R BR; Walters, Ryan O RO; Ferreira, Natalia C NC; Orrù, Christina D CD; Smith, Anna A; Wood, Aleksandar A; Schmit, Olivia M OM; Freitag, Phoebe P; Yuan, Jue J; Zou, Wenquan W; Bosio, Catharine M CM; Carroll, James A JA; Haigh, Cathryn L CL

Publication Date: 2021-10-11

Variant appearance in text: PRNP: E200K

PubMed Link: 34635127

Variant Present in the following documents:

• Main text

View BVdb publication page

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Xiaoping Dong, China CDC's Chief Expert of Virology.

China Cdc Weekly

Chen, Yu Y; Hao, Peter P; Liu, Nankun N; Li, Zhenjun Z; Xi, Jingjing J; Tan, Feng F

Publication Date: 2021-05-07

Variant appearance in text: CJD: E200K

PubMed Link: 34594897

Variant Present in the following documents:

• ccdcw-3-19-414.pdf

View BVdb publication page

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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: Glu200lys

PubMed Link: 34486485

Variant Present in the following documents:

• Main text
• KPRN_15_1968291.pdf

View BVdb publication page

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Current Nosology of Neural Autoantibody-Associated Dementia.

Frontiers In Aging Neuroscience

Hansen, Niels N

Publication Date: 2021

Variant appearance in text: CJD: E200K

PubMed Link: 34393763

Variant Present in the following documents:

• Main text

View BVdb publication page

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Viral and Prion Infections Associated with Central Nervous System Syndromes in Brazil.

Viruses

Sousa, Ivanildo P IP; Dos Santos, Flavia B FB; de Paula, Vanessa S VS; Vieira, Tuane C R G TCRG; Dias, Helver G HG; Barros, Caroline A CA; da Silva, Edson E EE

Publication Date: 2021-07-15

Variant appearance in text: CJD: E200K

PubMed Link: 34372576

Variant Present in the following documents:

• Main text

View BVdb publication page

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Parkinson's Disease: A Prionopathy?

International Journal Of Molecular Sciences

Vascellari, Sarah S; Manzin, Aldo A

Publication Date: 2021-07-27

Variant appearance in text: CJD: E200K

PubMed Link: 34360787

Variant Present in the following documents:

• Main text
• ijms-22-08022.pdf

View BVdb publication page

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