Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 63 Records) |
Query Trace: Prion Diseases and PRNP[original query] |
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Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study. BMC medical genetics 2016 Apr 17 28. Balendra Rubika, Uphill James, Collinson Claire, Druyeh Ronald, Adamson Gary, Hummerich Holger, Zerr Inga, Gambetti Pierluigi, Collinge John, Mead Sim |
Sporadic Creutzfeldt-Jakob disease diagnostic accuracy is improved by a new CSF ELISA 14-3-3? assay. Neuroscience 2016 Mar . Leitão M J, Baldeiras I, Almeida M R, Ribeiro M H, Santos A C, Ribeiro M, Tomás J, Rocha S, Santana I, Oliveira C |
Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China. Scientific reports 2016 Dec 6 38435. Zhang Weiwei, Jiao Bin, Xiao Tingting, Pan Chuzheng, Liu Xixi, Zhou Lin, Tang Beisha, Shen |
Are Brazilian cervids at risk of prion diseases? Prion 2017 Jan 11 (1): 65-70. Falcão Caio Bruno Ribeiro, Lima Isabel Luiza de Melo Nunes Freire, Duarte José Maurício Barbanti, de Oliveira João Ricardo Mendes, Torres Rodrigo Augusto, Wanderley Artur Maia, Gomes da Cunha José Eriton, Garcia José Eduar |
The associations of two SNPs in miRNA-146a and one SNP in ZBTB38-RASA2 with the disease susceptibility and the clinical features of the Chinese patients of sCJD and FFI. Prion 2017 12 12 (1): 34-41. Gao Chen, Shi Qiang, Wei Jing, Zhou Wei, Xiao Kang, Wang Jing, Shi Qi, Dong Xiao-Pi |
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases. Molecular neurobiology 2018 8 56 (4): 2811-2821. Villar-Piqué Anna, Schmitz Matthias, Lachmann Ingolf, Karch André, Calero Olga, Stehmann Christiane, Sarros Shannon, Ladogana Anna, Poleggi Anna, Santana Isabel, Ferrer Isidre, Mitrova Eva, Žáková Dana, Pocchiari Maurizio, Baldeiras Inês, Calero Miguel, Collins Steven J, Geschwind Michael D, Sánchez-Valle Raquel, Zerr Inga, Llorens Fra |
Prion-like protein gene (PRND) polymorphisms associated with scrapie susceptibility in Korean native black goats. PloS one 2018 10 13 (10): e0206209. Jeong Min-Ju, Kim Yong-Chan, Jeong Byung-Ho |
Variation in the prion protein gene (PRNP) sequence of wild deer in Great Britain and mainland Europe. Veterinary research 2019 8 50 (1): 59. Robinson Amy L, Williamson Helen, Güere Mariella E, Tharaldsen Helene, Baker Karis, Smith Stephanie L, Pérez-Espona Sílvia, Krojerová-Prokešová Jarmila, Pemberton Josephine M, Goldmann Wilfred, Houston Fio |
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation. Neuropsychiatric disease and treatment 2019 8 15 2003-2013. Bagyinszky Eva, Kang Min Ju, Pyun Jungmin, Giau Vo Van, An Seong Soo A, Kim SangY |
Plasma total prion protein as a potential biomarker for neurodegenerative dementia: diagnostic accuracy in the spectrum of prion diseases. Neuropathology and applied neurobiology 2019 Jun . Llorens F, Villar-Piqué A, Schmitz M, Diaz-Lucena D, Wohlhage M, Hermann P, Goebel S, Schmidt I, Glatzel M, Hauw J-J, Sikorska B, Liberski P P, Riggert J, Ferrer I, Zerr |
Scrapie susceptibility-associated indel polymorphism of shadow of prion protein gene (SPRN) in Korean native black goats. Scientific reports 2019 10 9 (1): 15261. Kim Yong-Chan, Kim Seon-Kwan, Jeong Byung-Ho |
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
![]() The Lancet. Neurology 2020 10 19 (10): 840-848. Jones Emma, Hummerich Holger, Viré Emmanuelle, Uphill James, Dimitriadis Athanasios, Speedy Helen, Campbell Tracy, Norsworthy Penny, Quinn Liam, Whitfield Jerome, Linehan Jacqueline, Jaunmuktane Zane, Brandner Sebastian, Jat Parmjit, Nihat Akin, How Mok Tze, Ahmed Parvin, Collins Steven, Stehmann Christiane, Sarros Shannon, Kovacs Gabor G, Geschwind Michael D, Golubjatnikov Aili, Frontzek Karl, Budka Herbert, Aguzzi Adriano, Karamuji?-?omi? Hata, van der Lee Sven J, Ibrahim-Verbaas Carla A, van Duijn Cornelia M, Sikorska Beata, Golanska Ewa, Liberski Pawel P, Calero Miguel, Calero Olga, Sanchez-Juan Pascual, Salas Antonio, Martinón-Torres Federico, Bouaziz-Amar Elodie, Haïk Stéphane, Laplanche Jean-Louis, Brandel Jean-Phillipe, Amouyel Phillipe, Lambert Jean-Charles, Parchi Piero, Bartoletti-Stella Anna, Capellari Sabina, Poleggi Anna, Ladogana Anna, Pocchiari Maurizio, Aneli Serena, Matullo Giuseppe, Knight Richard, Zafar Saima, Zerr Inga, Booth Stephanie, Coulthart Michael B, Jansen Gerard H, Glisic Katie, Blevins Janis, Gambetti Pierluigi, Safar Jiri, Appleby Brian, Collinge John, Mead Sim |
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients. Cells 2020 6 9 (6): . Kim Yong-Chan, Won Sae-Young, Jeong Byung-Ho |
Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect. Neurogenetics 2020 5 21 (4): 251-257. Melis Marta, Molari Andrea, Floris Gianluca, Vascellari Sarah, Balestrino Luisa, Ladogana Anna, Poleggi Anna, Parchi Piero, Cossu Giovanni, Melis Maurizio, Orrù Sandro, Defazio Giovan |
EFFECT OF ORAL COPPER SUPPLEMENTATION ON SUSCEPTIBILITY IN WHITE-TAILED DEER (ODOCOILEUS VIRGINIANUS) TO CHRONIC WASTING DISEASE. Journal of wildlife diseases 2020 2 56 (3): 568-575. Wolfe Lisa L, Conner Mary M, Miller Michael |
Novel Polymorphisms and Genetic Features of the Prion Protein Gene (PRNP) in Cats, Hosts of Feline Spongiform Encephalopathy. Genes 2020 12 12 (1): . Kim Hyeon-Ho, Kim Yong-Chan, Kim Kiwon, Kim An-Dang, Jeong Byung-Ho |
Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity. Frontiers in neurology 2020 12 11 596108. Parobkova Eva, van der Zee Julie, Dillen Lubina, Van Broeckhoven Christine, Rusina Robert, Matej Radosl |
Caprine PRNP polymorphisms N146S and Q222K are associated with proteolytic cleavage of PrP. Genetics, selection, evolution : GSE 2021 6 53 (1): 52. Madsen-Bouterse Sally A, Stewart Paula, Williamson Helen, Schneider David A, Goldmann Wilfr |
The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt-Jakob Disease. Cells 2021 11 10 (11): . Kim Yong-Chan, Jeong Byung-Ho |
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge. Alzheimer's research & therapy 2022 6 14 (1): 90. Chen Zhongyun, Chu Min, Liu Li, Zhang Jing, Kong Yu, Xie Kexin, Cui Yue, Ye Hong, Li Junjie, Wang Lin, Wu Liyo |
Genotype by environment interactions for chronic wasting disease in farmed US white-tailed deer. G3 (Bethesda, Md.) 2022 5 12 (7): . Seabury Christopher M, Lockwood Mitchell A, Nichols Tracy |
Methionine homozygosity for PRNP polymorphism and susceptibility to human prion diseases. Journal of neurology, neurosurgery, and psychiatry 2022 4 93 (7): 779-784. Kosami Koki, Ae Ryusuke, Hamaguchi Tsuyoshi, Sanjo Nobuo, Tsukamoto Tadashi, Kitamoto Tetsuyuki, Yamada Masahito, Mizusawa Hidehiro, Nakamura Yosika |
First report of a strong association between genetic polymorphisms of the prion protein gene (PRNP) and susceptibility to chronic wasting disease in sika deer (Cervus nippon). Transboundary and emerging diseases 2022 3 69 (5): e2073-e2083. Roh In-Soon, Kim Yong-Chan, Won Sae-Young, Jeong Min-Ju, Park Kyung-Je, Park Hoo-Chang, Lee Yu-Ran, Kang Hae-Eun, Sohn Hyun-Joo, Jeong Byung-Ho |
Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases. Brain : a journal of neurology 2022 3 145 (2): 700-712. Schmitz Matthias, Villar-Piqué Anna, Hermann Peter, Escaramís Geòrgia, Calero Miguel, Chen Cao, Kruse Niels, Cramm Maria, Golanska Ewa, Sikorska Beata, Liberski Pawel P, Pocchiari Maurizio, Lange Peter, Stehmann Christiane, Sarros Shannon, Martí Eulàlia, Baldeiras Inês, Santana Isabel, Žáková Dana, Mitrová Eva, Dong Xiao-Ping, Collins Steven, Poleggi Anna, Ladogana Anna, Mollenhauer Brit, Kovacs Gabor G, Geschwind Michael D, Sánchez-Valle Raquel, Zerr Inga, Llorens Fra |
[Prion diseases in The Netherlands: twenty-nine years of surveillance]. Nederlands tijdschrift voor geneeskunde 2022 10 166 . Karamuji?-?omi? Hata, Rozemuller Annemieke J M, Verbeek Marcel M, Lemstra Afina W, Ikram M Arfan, van Duijn Cornelia |
Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP). Journal of neurology 2023 9 . Astrid Van den Broecke, Alexander Decruyenaere, Nika Schuermans, Hannah Verdin, Jody Ghijsels, Anne Sieben, Bart Dermaut, Dimitri Hemelso |
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders. Journal of the neurological sciences 2023 6 451 120707. Martin Paucar, José Laffita-Mesa, Valter Niemelä, Helena Malmgren, Inger Nennesmo, Kristina Lagerstedt-Robinson, Magnus Nordenskjöld, Per Svenningss |
Identification of a novel risk factor for chronic wasting disease (CWD) in elk: S100G single nucleotide polymorphism (SNP) of the prion protein gene (PRNP). Veterinary research 2023 6 54 (1): 48. Yu-Ran Lee, Yong-Chan Kim, Sae-Young Won, Min-Ju Jeong, Kyung-Je Park, Hoo-Chang Park, In-Soon Roh, Hae-Eun Kang, Hyun-Joo Sohn, Byung-Hoon Jeo |
NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L). Molecular biology reports 2023 10 . Michele Salemi, Luana G M Mandarà, Maria Grazia Salluzzo, Francesca A Schillaci, Roberto Castiglione, Angela Cordella, Roberta Iorio, Concetta Simona Perrotta, Raffaele Ferri, Corrado Roma |
Large-scale validation of skin prion seeding activity as a biomarker for diagnosis of prion diseases. Acta neuropathologica 2024 1 147 (1): 17. Weiguanliu Zhang, Christina D Orrú, Aaron Foutz, Mingxuan Ding, Jue Yuan, Syed Zahid Ali Shah, Jing Zhang, Keisi Kotobelli, Maria Gerasimenko, Tricia Gilliland, Wei Chen, Michelle Tang, Mark Cohen, Jiri Safar, Bin Xu, Dao-Jun Hong, Li Cui, Andrew G Hughson, Lawrence B Schonberger, Curtis Tatsuoka, Shu G Chen, Justin J Greenlee, Zerui Wang, Brian S Appleby, Byron Caughey, Wen-Quan Z |
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- Page last updated:Jun 17, 2024
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