Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease.
Brain : A Journal Of Neurology
Mok, Tze How TH; Nihat, Akin A; Majbour, Nour N; Sequeira, Danielle D; Holm-Mercer, Leah L; Coysh, Thomas T; Darwent, Lee L; Batchelor, Mark M; Groveman, Bradley R BR; Orrù, Christina D CD; Hughson, Andrew G AG; Heslegrave, Amanda A; Laban, Rhiannon R; Veleva, Elena E; Paterson, Ross W RW; Keshavan, Ashvini A; Schott, Jonathan J; Swift, Imogen J IJ; Heller, Carolin C; Rohrer, Jonathan D JD; Gerhard, Alexander A; Butler, Christopher C; Rowe, James B JB; Masellis, Mario M; Chapman, Miles M; Lunn, Michael P MP; Bieschke, Jan J; Jackson, Graham S GS; Zetterberg, Henrik H; Caughey, Byron B; Rudge, Peter P; Collinge, John J; Mead, Simon S
Application of real-time quaking-induced conversion in Creutzfeldt-Jakob disease surveillance.
Journal Of Neurology
Hermann, Peter P; Schmitz, Matthias M; Cramm, Maria M; Goebel, Stefan S; Bunck, Timothy T; Schütte-Schmidt, Julia J; Schulz-Schaeffer, Walter W; Stadelmann, Christine C; Matschke, Jakob J; Glatzel, Markus M; Zerr, Inga I
Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.
Sporadic Creutzfeldt-Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance.
Journal Of Neurology
Tam, Johnny J; Centola, John J; Kurudzhu, Hatice H; Watson, Neil N; MacKenzie, Janet J; Leitch, Margaret M; Hughes, Terri T; Green, Alison A; Summers, David D; Barria, Marcelo M; Smith, Colin C; Pal, Suvankar S
Cryo-EM structures of prion protein filaments from Gerstmann-Sträussler-Scheinker disease.
Acta Neuropathologica
Hallinan, Grace I GI; Ozcan, Kadir A KA; Hoq, Md Rejaul MR; Cracco, Laura L; Vago, Frank S FS; Bharath, Sakshibeedu R SR; Li, Daoyi D; Jacobsen, Max M; Doud, Emma H EH; Mosley, Amber L AL; Fernandez, Anllely A; Garringer, Holly J HJ; Jiang, Wen W; Ghetti, Bernardino B; Vidal, Ruben R
Extracellular Prion Protein Aggregates in Nine Gerstmann-Sträussler-Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data.
International Journal Of Molecular Sciences
Jankovska, Nikol N; Matej, Radoslav R; Olejar, Tomas T
Extracellular Prion Protein Aggregates in Nine Gerstmann-Sträussler-Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data.
International Journal Of Molecular Sciences
Jankovska, Nikol N; Matej, Radoslav R; Olejar, Tomas T
A Japanese family with P102L Gerstmann-Sträussler-Scheinker disease with a variant Creutzfeldt-Jakob disease-like phenotype among the siblings: A case report.
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Alzheimer'S Research & Therapy
Ximelis, Teresa T; Marín-Moreno, Alba A; Espinosa, Juan Carlos JC; Eraña, Hasier H; Charco, Jorge M JM; Hernández, Isabel I; Riveira, Carmen C; Alcolea, Daniel D; González-Roca, Eva E; Aldecoa, Iban I; Molina-Porcel, Laura L; Parchi, Piero P; Rossi, Marcello M; Castilla, Joaquín J; Ruiz-García, Raquel R; Gelpi, Ellen E; Torres, Juan María JM; Sánchez-Valle, Raquel R
Viral and Prion Infections Associated with Central Nervous System Syndromes in Brazil.
Viruses
Sousa, Ivanildo P IP; Dos Santos, Flavia B FB; de Paula, Vanessa S VS; Vieira, Tuane C R G TCRG; Dias, Helver G HG; Barros, Caroline A CA; da Silva, Edson E EE
Detection of Prions in Brain Homogenates and CSF Samples Using a Second-Generation RT-QuIC Assay: A Useful Tool for Retrospective Analysis of Archived Samples.
Pathogens (Basel, Switzerland)
Moško, Tibor T; Galušková, Soňa S; Matěj, Radoslav R; Brůžová, Magdalena M; Holada, Karel K
The importance of ongoing international surveillance for Creutzfeldt-Jakob disease.
Nature Reviews. Neurology
Watson, Neil N; Brandel, Jean-Philippe JP; Green, Alison A; Hermann, Peter P; Ladogana, Anna A; Lindsay, Terri T; Mackenzie, Janet J; Pocchiari, Maurizio M; Smith, Colin C; Zerr, Inga I; Pal, Suvankar S
Further Characterization of Glycoform-Selective Prions of Variably Protease-Sensitive Prionopathy.
Pathogens (Basel, Switzerland)
Zhang, Weiguanliu W; Xiao, Xiangzhu X; Ding, Mingxuan M; Yuan, Jue J; Foutz, Aaron A; Moudjou, Mohammed M; Kitamoto, Tetsuyuki T; Langeveld, Jan P M JPM; Cui, Li L; Zou, Wen-Quan WQ
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17
Variant appearance in text: PRNP: 305C>T; Pro102Leu
Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases.
Molecular Psychiatry
Thompson, Andrew G B AGB; Anastasiadis, Prodromos P; Druyeh, Ronald R; Whitworth, Ines I; Nayak, Annapurna A; Nihat, Akin A; Mok, Tze How TH; Rudge, Peter P; Wadsworth, Jonathan D F JDF; Rohrer, Jonathan J; Schott, Jonathan M JM; Heslegrave, Amanda A; Zetterberg, Henrik H; Collinge, John J; Jackson, Graham S GS; Mead, Simon S
Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases.
Molecular Psychiatry
Thompson, Andrew G B AGB; Anastasiadis, Prodromos P; Druyeh, Ronald R; Whitworth, Ines I; Nayak, Annapurna A; Nihat, Akin A; Mok, Tze How TH; Rudge, Peter P; Wadsworth, Jonathan D F JDF; Rohrer, Jonathan J; Schott, Jonathan M JM; Heslegrave, Amanda A; Zetterberg, Henrik H; Collinge, John J; Jackson, Graham S GS; Mead, Simon S
Putaminal diffusion tensor imaging measures predict disease severity across human prion diseases.
Brain Communications
Hyare, Harpreet H; De Vita, Enrico E; Porter, Marie-Claire MC; Simpson, Ivor I; Ridgway, Gerard G; Lowe, Jessica J; Thompson, Andrew A; Carswell, Chris C; Ourselin, Sebastien S; Modat, Marc M; Dos Santos Canas, Liane L; Caine, Diana D; Fox, Zoe Z; Rudge, Peter P; Collinge, John J; Mead, Simon S; Thornton, John S JS