Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 209 Records) |
| Query Trace: PRNP[original query] |
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| Clinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population. Neuro-degenerative diseases 2022 Aug . Ramírez-García Miguel Ángel, Dávila-Ortiz de Montellano David José, Martínez-Ruano Leticia, Ochoa-Morales Adriana, Romero-Hidalgo Sandra, Zenteno Juan Carlos, Yescas-Gómez Pet |
| Development of prognostic models for survival and care status in sporadic Creutzfeldt-Jakob disease. Brain communications 2022 8 4 (4): fcac201. Nihat Ak?n, Ranson Janice M, Harris Dominique, McNiven Kirsty, Mok TzeHow, Rudge Peter, Collinge John, Llewellyn David J, Mead Sim |
| Genetic Polymorphism at 15 Codons of the Prion Protein Gene in 156 Goats from Romania. Genes 2022 7 13 (8): . Gurau Maria Rodica, Negru Elena, Ionescu Teodor, Udriste Anca Amalia, Cornea C?lina Petru?a, Baraitareanu Steli |
| Scrapie-associated polymorphisms of the prion protein gene (PRNP) in Nigerian native goats. Gene 2022 12 855 147121. Adeola Adeniyi C, Bello Semiu F, Abdussamad Abdussamad M, Mark Akanbi I, Sanke Oscar J, Onoja Anyebe B, Nneji Lotanna M, Abdullahi Nasiru, Olaogun Sunday C, Rogo Lawal D, Mangbon Godwin F, Pedro Shamsudeen L, Hiinan Manasseh P, Mukhtar Muhammad M, Ibrahim Jebi, Saidu Hayatu, Dawuda Philip M, Bala Rukayya K, Abdullahi Hadiza L, Salako Adebowale E, Kdidi Samia, Yahyaoui Mohamed Habib, Yin Ting-Ti |
| Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome. Journal of Alzheimer's disease reports 2022 11 6 (1): 651-662. Kim Eun-Joo, Na Duk L, Kim Hee-Jin, Park Kyung Won, Lee Jae-Hong, Roh Jee Hoon, Kwon Jay C, Yoon Soo Jin, Jung Na-Yeon, Jeong Jee Hyang, Jang Jae-Won, Kim Hee-Jin, Park Kee Hyung, Choi Seong Hye, Kim SangYun, Park Young Ho, Kim Byeong C, Youn Young Chul, Ki Chang-Seok, Kim Seung Hyun, Seo Sang Won, Kim Young-E |
| No association of prion protein gene (PRNP) polymorphisms with susceptibility to the pandemic 2009 swine flu. Molecular & cellular toxicology 2022 11 1-5. Kim Yong-Chan, Won Sae-Young, Jeong Byung-Ho |
| [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 Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia. Cells 2023 8 12 (16): . Katrin Thüne, Matthias Schmitz, John Wiedenhöft, Orr Shomroni, Stefan Göbel, Timothy Bunck, Neelam Younas, Saima Zafar, Peter Hermann, Inga Ze |
| Risk of variant Creutzfeldt-Jakob disease in a simulated cohort of Canadian blood donors. Vox sanguinis 2023 7 . Alexis Pozzo di Borgo, Marc Germain, Sheila F O'Brien, Gilles Delage, Christian Renaud, Antoine Lew |
| 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 |
| Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia. Clinical genetics 2023 5 . Haitian Nan, Li Liu, Zhongyun Chen, Min Chu, Jieying Li, Donglai Jing, Yihao Wang, Liyong |
| Two Chinese patients of sporadic Creutzfeldt-Jacob disease with a S97N mutation in PRNP gene. Prion 2023 11 17 (1): 141-144. Dong-Lin Liang, Qi Shi, Kang Xiao, Ruhan A, Wei Zhou, Xiao-Ping Do |
| 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 |
| Prion Mutations in Republic of Republic of Korea, China, and Japan. International journal of molecular sciences 2023 1 24 (1): . Kim Dan Yeong, Shim Kyu Hwan, Bagyinszky Eva, An Seong Soo |
| High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease. Neurology. Genetics 2023 1 9 (1): e200054. Murley Alexander G, Nie Yu, Golder Zoe, Keogh Michael John, Smith Colin, Ironside James W, Chinnery Patrick |
| Variation in the prion protein gene (PRNP) open reading frame sequence in French cervids. Veterinary research 2024 9 55 (1): 105. Johann Laubier, Anne Van De Wiele, Aurélie Barboiron, Denis Laloë, Christine Saint-Andrieux, Johan Castille, Emma Meloni, Sonja Ernst, Maryline Pellerin, Sandrine Floriot, Nathalie Daniel-Carlier, Bruno Passet, Joël Merlet, Hélène Verheyden, Vincent Béringue, Olivier Andréoletti, Fiona Houston, Jean-Luc Vilotte, Vincent Bourret, Katayoun Moazami-Goudar |
| Exploring the genetic variability of the PRNP gene at codons 127, 142, 146, 154, 211, 222, and 240 in goats farmed in the Lombardy Region, Italy. Veterinary research 2024 8 55 (1): 99. Carlotta Ferrari, Chiara Punturiero, Raffaella Milanesi, Andrea Delledonne, Alessandro Bagnato, Maria G Strillac |
| Prion protein gene (PRNP) variation in German and Danish cervids. Veterinary research 2024 8 55 (1): 98. Sonja Ernst, Agata Piestrzy?ska-Kajtoch, Jörn Gethmann, Ma?gorzata Natonek-Wi?niewska, Balal Sadeghi, Miroslaw P Polak, Markus Keller, Dolores Gavier-Widén, Katayoun Moazami-Goudarzi, Fiona Houston, Martin H Groschup, Christine Fa |
| Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia. Movement disorders : official journal of the Movement Disorder Society 2024 8 . Adeline Su Lyn Ng, Ai Huey Tan, Yi Jayne Tan, Jia Lun Lim, Michelle Mulan Lian, Alfand Marl Dy Closas, Azlina Ahmad-Annuar, Shanthi Viswanathan, Yuen Kang Chia, Jia Nee Foo, Weng Khong Lim, Eng-King Tan, Shen-Yang L |
| Genome wide association study of clinical duration and age at onset of sporadic CJD. PloS one 2024 7 19 (7): e0304528. Holger Hummerich, Helen Speedy, Tracy Campbell, Lee Darwent, Elizabeth Hill, Steven Collins, Christiane Stehmann, Gabor G Kovacs, Michael D Geschwind, Karl Frontzek, Herbert Budka, Ellen Gelpi, Adriano Aguzzi, Sven J van der Lee, Cornelia M van Duijn, Pawel P Liberski, Miguel Calero, Pascual Sanchez-Juan, Elodie Bouaziz-Amar, Jean-Louis Laplanche, Stéphane Haïk, Jean-Phillipe Brandel, Angela Mammana, Sabina Capellari, Anna Poleggi, Anna Ladogana, Maurizio Pocchiari, Saima Zafar, Stephanie Booth, Gerard H Jansen, Aušrin? Areškevi?i?t?, Eva Løbner Lund, Katie Glisic, Piero Parchi, Peter Hermann, Inga Zerr, Brian S Appleby, Jiri Safar, Pierluigi Gambetti, John Collinge, Simon Me |
| Genetic variability of FOXP2 and its targets CNTNAP2 and PRNP in frontotemporal dementia: A pilot study in a southern Italian population. Heliyon 2024 6 10 (11): e31624. Paolina Crocco, Francesco De Rango, Francesco Bruno, Antonio Malvaso, Raffaele Maletta, Amalia C Bruni, Giuseppe Passarino, Giuseppina Rose, Serena Da |
| Cerebrospinal fluid p-tau181, 217, and 231 in definite Creutzfeldt-Jakob disease with and without concomitant pathologies. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 6 . Andreja Emerši?, Nicholas J Ashton, Agathe Vrillon, Juan Lantero-Rodriguez, Jernej Mlakar, Milica Gregori? Kramberger, Fernando Gonzalez-Ortiz, Przemys?aw R Kac, Maciej Dulewicz, Jörg Hanrieder, Eugeen Vanmechelen, Uroš Rot, Henrik Zetterberg, Thomas K Karikari, Saša ?u?nik, Kaj Blenn |
| Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion. Neurology 2024 6 103 (2): e209506. Sonia M Vallabh, Meredith A Mortberg, Shona W Allen, Ashley C Kupferschmid, Pia Kivisakk, Bruno L Hammerschlag, Anna Bolling, Bianca A Trombetta, Kelli Devitte-McKee, Abaigeal M Ford, Lauren E Sather, Griffin Duffy, Ashley Rivera, Jessica Gerber, Alison J McManus, Eric V Minikel, Steven E Arno |
| Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations. Alzheimer's research & therapy 2024 6 16 (1): 127. Haitian Nan, Yeon-Jeong Kim, Min Chu, Dan Li, Jieying Li, Deming Jiang, Yiming Wu, Toshihisa Ohtsuka, Liyong |
| Accumulation Area of a Japanese PRNP P102L Variant: The Ariake PRNP P102L Variant. Journal of clinical neurology (Seoul, Korea) 2024 1 . Kohei Suzuyama, Makoto Eriguchi, Hiromu Minagawa, Hiroyuki Honda, Keita Kai, Tetsuyuki Kitamoto, Hideo Ha |
| National Prevalence of Caprine Prion Protein Genetic Variability at Codons 146, 211, and 222 in Goat Herds in the United States. Veterinary sciences 2024 1 11 (1): . Mohamed Zeineldin, Heather Cox-Struble, Patrick Camp, David Farrell, Randy Pritchard, Tyler C Thacker, Kimberly Lehm |
| 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 |
| Biomarker changes preceding symptom onset in genetic prion disease. medRxiv : the preprint server for health sciences 2024 1 . Sonia M Vallabh, Meredith A Mortberg, Shona W Allen, Ashley C Kupferschmid, Pia Kivisäkk, Bruno L Hammerschlag, Anna Bolling, Bianca A Trombetta, Kelli Devitte-McKee, Abaigeal M Ford, Lauren Sather, Griffin Duffy, Ashley Rivera, Jessica Gerber, Alison J McManus, Eric Vallabh Minikel, Steven E Arno |
- Page last reviewed:Feb 1, 2024
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