Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 56 Records) |
Query Trace: Prion disease[original query] |
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Inherited mtDNA variations are not strong risk factors in human prion disease. Neurobiology of aging 2015 Oct 36 (10): 2908.e1-3. Hudson Gavin, Uphill James, Hummerich Holger, Blevins Janice, Gambetti Pierluigi, Zerr Inga, Collinge John, Mead Simon, Chinnery Patrick |
Evaluating pathogenic dementia variants in posterior cortical atrophy. Neurobiology of aging 2015 Oct . Carrasquillo Minerva M, Barber Imelda, Lincoln Sarah J, Murray Melissa E, Camsari Gamze Balci, Khan Qurat Ul Ain, Nguyen Thuy, Ma Li, Bisceglio Gina D, Crook Julia E, Younkin Steven G, Dickson Dennis W, Boeve Bradley F, Graff-Radford Neill R, Morgan Kevin, Ertekin-Taner Nilüf |
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 |
Analysis of the prion protein gene in multiple system atrophy. Neurobiology of aging 2017 Jan 49 216.e15-216.e18. Chelban Viorica, Manole Andreea, Pihlstrøm Lasse, Schottlaender Lucia, Efthymiou Stephanie, OConnor Emer, Meissner Wassilios G, Holton Janice L, Houlden Hen |
Quantifying prion disease penetrance using large population control cohorts. Science translational medicine 2016 Jan 8 (322): 322ra9. Minikel Eric Vallabh, Vallabh Sonia M, Lek Monkol, Estrada Karol, Samocha Kaitlin E, Sathirapongsasuti J Fah, McLean Cory Y, Tung Joyce Y, Yu Linda P C, Gambetti Pierluigi, Blevins Janis, Zhang Shulin, Cohen Yvonne, Chen Wei, Yamada Masahito, Hamaguchi Tsuyoshi, Sanjo Nobuo, Mizusawa Hidehiro, Nakamura Yosikazu, Kitamoto Tetsuyuki, Collins Steven J, Boyd Alison, Will Robert G, Knight Richard, Ponto Claudia, Zerr Inga, Kraus Theo F J, Eigenbrod Sabina, Giese Armin, Calero Miguel, de Pedro-Cuesta Jesús, Haïk Stéphane, Laplanche Jean-Louis, Bouaziz-Amar Elodie, Brandel Jean-Philippe, Capellari Sabina, Parchi Piero, Poleggi Anna, Ladogana Anna, O'Donnell-Luria Anne H, Karczewski Konrad J, Marshall Jamie L, Boehnke Michael, Laakso Markku, Mohlke Karen L, Kähler Anna, Chambert Kimberly, McCarroll Steven, Sullivan Patrick F, Hultman Christina M, Purcell Shaun M, Sklar Pamela, van der Lee Sven J, Rozemuller Annemieke, Jansen Casper, Hofman Albert, Kraaij Robert, van Rooij Jeroen G J, Ikram M Arfan, Uitterlinden André G, van Duijn Cornelia M, , Daly Mark J, MacArthur Daniel |
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 |
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 |
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 |
Genetic screening in early-onset Alzheimer's disease identified three novel presenilin mutations. Neurobiology of aging 2019 2 86 201.e9-201.e14. Wong Tsz Hang, Seelaar Harro, Melhem Shamiram, Rozemuller Annemieke J M, van Swieten John |
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 |
Geographic variation in the PRNP gene and its promoter, and their relationship to chronic wasting disease in North American deer. Prion 2020 7 14 (1): 185-192. Zink Robert M, Najar Nadje, Vázquez-Miranda Hernán, Buchanan Brittaney L, Loy Duan, Brodersen Bruce |
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 |
Autoantibodies against the prion protein in individuals with PRNP mutations. Neurology 2020 2 95 (14): e2028-e2037. Frontzek Karl, Carta Manfredi, Losa Marco, Epskamp Mirka, Meisl Georg, Anane Alice, Brandel Jean-Philippe, Camenisch Ulrike, Castilla Joaquín, Haïk Stéphane, Knowles Tuomas, Lindner Ewald, Lutterotti Andreas, Minikel Eric Vallabh, Roiter Ignazio, Safar Jiri G, Sanchez-Valle Raquel, Žáková Dana, Hornemann Simone, Aguzzi Adriano, |
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 |
Baseline neuropsychological profiles in prion disease predict survival time. Annals of clinical and translational neurology 2020 Sep 7 (9): 1535-1545. Sundaram Saranya E, Staffaroni Adam M, Walker Nicole C, Casaletto Kaitlin B, Casey Megan, Golubjatnikov Aili, Metcalf Stacy, O'Leary Kelly, Wong Katherine, Benisano Kendra, Forner Sven, Gonzalez Catalan Marta, Allen Isabel E, Rosen Howard J, Kramer Joel H, Geschwind Michael |
Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion. Viruses 2021 9 13 (9): . Brennecke Nicholas, Cali Ignazio, Mok Tze How, Speedy Helen, Genomics England Research Consortium , Hosszu Laszlo L P, Stehmann Christiane, Cracco Laura, Puoti Gianfranco, Prior Thomas W, Cohen Mark L, Collins Steven J, Mead Simon, Appleby Brian |
Polymorphisms of the prion-related protein gene are strongly associated with cervids' susceptibility to chronic wasting disease. The Veterinary record 2021 9 190 (4): e940. Roh In-Soon, Kim Yong-Chan, Kim Hyo-Jin, Won Sae-Young, Jeong Min-Ju, Hwang Ji-Yong, Kang Hae-Eun, Sohn Hyun-Joo, Jeong Byung-Ho |
Absence of proteinase K-resistant PrP in Korean Holstein cattle carrying potential bovine spongiform encephalopathy-related E211K somatic mutation. Transboundary and emerging diseases 2021 3 69 (2): 805-812. Kim Yong-Chan, Won Sae-Young, Jeong Min-Ju, Jeong Byung-Ho |
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 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 |
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 |
Regional variability and genotypic and pharmacodynamic effects on PrP concentration in the CNS. JCI insight 2022 2 7 (6): . Mortberg Meredith A, Zhao Hien T, Reidenbach Andrew G, Gentile Juliana E, Kuhn Eric, O'Moore Jill, Dooley Patrick M, Connors Theresa R, Mazur Curt, Allen Shona W, Trombetta Bianca A, McManus Alison, Moore Matthew R, Liu Jiewu, Cabin Deborah E, Kordasiewicz Holly B, Mathews Joel, Arnold Steven E, Vallabh Sonia M, Minikel Eric Valla |
[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 |
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 |
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 |
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- Page last updated:May 13, 2024
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