Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 126 Records) |
| Query Trace: Creutzfeldt-jakob Disease[original query] |
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| 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 Creutzfeldt-Jakob disease affected monozygotic twins: Analysis of survival time, age at death and possible exogenous risk factors. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 5 66 191-195. Mitrová Eva, Záková-Slivarichová Dana, Stelzer Martin, Belay Girma, Janáková Alzbeta, Koscová Silv |
| Variant Creutzfeldt-Jakob disease strain is identical in individuals of two PRNP codon 129 genotypes. Brain : a journal of neurology 2019 5 142 (5): e22. Authors are not available |
| Synaptic, axonal damage and inflammatory cerebrospinal fluid biomarkers in neurodegenerative dementias. Alzheimer's & dementia : the journal of the Alzheimer's Association 2019 11 16 (2): 262-272. Antonell Anna, Tort-Merino Adrià, Ríos José, Balasa Mircea, Borrego-Écija Sergi, Auge Josep M, Muñoz-García Cristina, Bosch Beatriz, Falgàs Neus, Rami Lorena, Ramos-Campoy Oscar, Blennow Kaj, Zetterberg Henrik, Molinuevo José L, Lladó Albert, Sánchez-Valle Raqu |
| 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 |
| Prion protein codon 129 polymorphism in mild cognitive impairment and dementia: the Rotterdam Study. Brain communications 2020 9 2 (1): fcaa030. Karamuji?-?omi? Hata, Ahmad Shahzad, Lysen Thom S, Heshmatollah Alis, Roshchupkin Gennady V, Vernooij Meike W, Rozemuller Annemieke J M, Ikram Mohammad Arfan, Amin Najaf, van Duijn Cornelia |
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 |
| 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 |
| 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 |
| Prion strains associated with iatrogenic CJD in French and UK human growth hormone recipients. Acta neuropathologica communications 2021 8 9 (1): 145. Douet Jean-Yves, Huor Alvina, Cassard Hervé, Lugan Séverine, Aron Naïma, Mesic Chloé, Vilette Didier, Barrio Tomás, Streichenberger Nathalie, Perret-Liaudet Armand, Delisle Marie-Bernadette, Péran Patrice, Deslys Jean-Philippe, Comoy Emmanuel, Vilotte Jean-Luc, Goudarzi Katayoun, Béringue Vincent, Barria Marcelo A, Ritchie Diane L, Ironside James W, Andréoletti Olivi |
| Extracellular Protein Aggregates Colocalization and Neuronal Dystrophy in Comorbid Alzheimer's and Creutzfeldt-Jakob Disease: A Micromorphological Pilot Study on 20 Brains. International journal of molecular sciences 2021 3 22 (4): . Jankovska Nikol, Olejar Tomas, Matej Radosl |
| 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 |
| 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 |
| 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 |
| 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 |
| The cognitive phenotypes of Creutzfeldt-Jakob disease: comparison with secondary metabolic encephalopathy. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 Jan . Giovagnoli Anna Rita, Di Fede Giuseppe, Rossi Giacomina, Moda Fabio, Grisoli Marina, Bugiani Or |
| 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 |
| Cerebral cortex swelling in V180I genetic Creutzfeldt-Jakob disease: comparative imaging study between sporadic and V180I genetic Creutzfeldt-Jakob disease in the early stage. Prion 2023 4 17 (1): 105-110. Muroga Yuki, Sugiyama Atsuhiko, Mukai Hiroki, Hashiba Jun, Yokota Hajime, Satoh Katsuya, Kitamoto Tetsuyuki, Wang Jiaqi, Ito Shoichi, Kuwabara Satos |
| Defining the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease MV2K: the kuru plaque type. Brain : a journal of neurology 2023 3 . Baiardi Simone, Mammana Angela, Dellavalle Sofia, Rossi Marcello, Redaelli Veronica, Colaizzo Elisa, Di Fede Giuseppe, Ladogana Anna, Capellari Sabina, Parchi Pie |
| 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 |
| Clinical, neuropathological, and molecular characteristics of rapidly progressive dementia with Lewy bodies: a distinct clinicopathological entity? Alzheimer's research & therapy 2024 9 16 (1): 201. Giuseppe Mario Bentivenga, Simone Baiardi, Andrea Mastrangelo, Edoardo Ruggeri, Angela Mammana, Alice Ticca, Marcello Rossi, Sabina Capellari, Piero Parc |
| 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 |
| 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 |
| Association of Glymphatic Function With Clinical Characteristics in Patients With Clinical and Asymptomatic Creutzfeldt-Jakob Disease. Neurology 2024 12 104 (1): e210055. Zhongyun Chen, Deming Jiang, Yu Kong, Jing Zhang, Chu Min, Sheng Bi, Shaozhen Yan, Hong Ye, Junjie Li, Lin Wang, Jie Lu, Liyong |
| Genetic assessment of apolipoprotein E polymorphism and PRNP genotypes in rapidly progressive dementias in Pakistan. Prion 2024 12 18 (1): 1-7. Urwah Rasheed, Minahil Khalid, Aneeqa Noor, Umar Saeed, Rizwan Uppal, Saima Zaf |
| 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 |
- Page last reviewed:Feb 1, 2024
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