Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 120 Records) |
| Query Trace: Creutzfeldt-jakob Disease[original query] |
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| Neuropsychological Symptoms in Sporadic Creutzfeldt-Jakob Disease Patients in Germany. Journal of Alzheimer's disease : JAD 2017 Jun . Krasnianski Anna, Bohling Geeske T, Heinemann Uta, Varges Daniela, Meissner Bettina, Schulz-Schaeffer Walter J, Reif Andreas, Zerr In |
| Clinical and laboratory features of 14 young Chinese probable sCJD patients. Prion 2017 Mar 1-8. Shi Qi, Xiao Kang, Chen Cao, Zhou Wei, Gao Chen, Wang Jing, Zhang Bao-Yun, Wang Yuan, 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 |
| Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the CYP4X1 gene. Journal of neurology, neurosurgery, and psychiatry 2018 Dec 89 (12): 1243-1249. Poleggi Anna, van der Lee Sven, Capellari Sabina, Puopolo Maria, Ladogana Anna, De Pascali Eleonora, Lia Debora, Formato Alessia, Bartoletti-Stella Anna, Parchi Piero, van Duijn Cornelia, Pocchiari Mauriz |
| Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification. Emerging infectious diseases 2018 6 24 (7): 1364-1366. Bougard Daisy, Bélondrade Maxime, Mayran Charly, Bruyère-Ostells Lilian, Lehmann Sylvain, Fournier-Wirth Chantal, Knight Richard S, Will Robert G, Green Alison J |
| Cerebrospinal fluid neurofilament light levels in neurodegenerative dementia: Evaluation of diagnostic accuracy in the differential diagnosis of prion diseases. Alzheimer's & dementia : the journal of the Alzheimer's Association 2018 2 14 (6): 751-763. Zerr Inga, Schmitz Matthias, Karch André, Villar-Piqué Anna, Kanata Eirini, Golanska Ewa, Díaz-Lucena Daniela, Karsanidou Aikaterini, Hermann Peter, Knipper Tobias, Goebel Stefan, Varges Daniela, Sklaviadis Theodoros, Sikorska Beata, Liberski Pawel P, Santana Isabel, Ferrer Isidro, Zetterberg Henrik, Blennow Kaj, Calero Olga, Calero Miguel, Ladogana Anna, Sánchez-Valle Raquel, Baldeiras Inês, 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 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 18, 2023
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