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Sporadic MM-1 Type Creutzfeldt-Jakob Disease With Hemiballic Presentation and No Cognitive Impairment Until Death: How New NCJDRSU Diagnostic Criteria May Allow Early Diagnosis
Frontiers in Neurology, 2018 Sporadic Creutzfeldt-Jakob disease is the most common human prion disorder. Although associated with heterogeneous clinical phenotypes, its distinctive feature is the presence of a rapidly progressive multidomain cognitive impairment.Lorenzo Saraceno, Vito A. G. Ricigliano, Michele Cavalli, Alessandro Cagol, Giovanna Bosco, Fabio Moda, Paola Caroppo, Giovanni Meola, Giovanni Meola +8 moredoaj +1 more sourceBeyond PrP res type 1/type 2 dichotomy in Creutzfeldt-Jakob disease [PDF]
, 2008 Sporadic Creutzfeldt-Jakob disease (sCJD) cases are currently subclassified according to the methionine/valine polymorphism at codon 129 of the PRNP gene and the proteinase K (PK) digested abnormal prion protein (PrPres)identified on Western blotting ...Ironside, James W, Uro-Coste, Emmanuelle, Grassi, J., Head, Mark, Jean-Marc Bilheude, Lacroux, Caroline, Cassard Hervé, Armand Perret-Liaudet, Marie Bernadette Delisle, Grassi, Jacques, Head, M.W., Hauw, J.J., Head Mark W., Andréoletti Olivier, Bilheude, Jean-Marc, Peoch, Katell, Delisle, Marie-Bernadette, Streichenberger, Nathalie, Ironside, J.E., Simon Stéphanie, Lacroux Caroline, Simon, S., Haik, S., Peoch' Katell, Hervé Cassard, Jean-Jacques Hauw, Haik Stéphane, Basset-Leobon Christelle, Bilheude, J.M., Andreoletti, O., Jan Langeveld, Bilheude Jean-Marc, Stéphanie Simon, Uro-Coste Emmanuelle, Schelcher, F., Ironside, James, W., Langeveld, Jan, Christelle Basset-Leobon, Jacques Grassi, Olivier Andréoletti, Lugan, Séverine, Andréoletti, Olivier, Emmanuelle Uro-Coste, Lugan, S., Caroline Lacroux, Ironside, James, Hauw, Jean-Jacques, Perret-Liaudet, Armand, Basset-Leobon, Christelle, Basset-Leobon, C., Cassard, Hervé, Stéphane Haik, Head, Mark, W., Hauw Jean-Jacques, Langeveld Jan, James W Ironside, Simon, Stéphanie, Peoch, K., Séverine Lugan, Streichenberger Nathalie, Langeveld, J.P.M., Perret-Liaudet, A., Streichenberger, N., Cassard, H., Delisle, M.B., Uro-Coste, E., Haik, Stéphane, Schelcher, Francois, Grassi Jacques, Peoc’h, Katell, Mark W Head, Delisle, Marie Bernadette, Lacroux, C., Lugan Séverine, Schelcher Francois, Delisle Marie Bernadette, Head, Mark W, Ironside James W., Nathalie Streichenberger, Francois Schelcher, Katell Peoch', Perret-Liaudet Armand, Peoch', Katell, Head, Mark,, Ironside, James, +84 morecore +1 more sourceProteomic analysis of the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease [PDF]
, 2007 So far, only the detection of 14-3-3 proteins in cerebrospinal fluid (CSF) has been accepted as diagnostic criterion for Creutzfeldt-Jakob disease (CJD). However, this assay cannot be used for screening because of the high rate of false-positive results, Steinacker, Petra, Brechlin, Peter, Cepek, Lukas, Klingebiel, Enrico, Bibl, Mirko, Kretzschmar, Hans A., Mollenhauer, Brit, Otto, Markus, Wiltfang, Jens +8 morecore +1 more sourceFollow-up investigations of tau protein and S-100B levels in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease [PDF]
, 2005 Background: S-100B and tau protein have a high differential diagnostic potential for the diagnosis of Creutzfeldt-Jakob disease (CJD). So far there has been only limited information available about the dynamics of these parameters in the cerebrospinal ...Cepek, L., Wiese, Birgitt, Ciesielczyk, Barbara, Cepek, Lukas, Zerr, Inga, Zerr, I., Kretzschmar, Hans A., Poser, Sigrid, Otto, Markus, Steinacker, Petra, Wiltfang, J., Schulz-Schaeffer, Walter J., Wiese, B., Bibl, Mirko, Mollenhauer, Brit, Wiltfang, Jens +15 morecore +1 more sourceCSF lactate dehydrogenase activity in patients with Creutzfeldt-Jakob disease exceeds that in other dementias [PDF]
, 2004 The diagnosis of Creutzfeldt- Jakob disease (CJD) is still made by exclusion of other dementias. We now evaluated lactate dehydrogenase (LDH) in the cerebrospinal fluid (CSF) as a possible additional diagnostic tool. CSF LDH levels of patients with CJD ( Cepek, L., Niedmann, P., Poser, S., Otto, M., Kretzschmar, Hans A., Otto, Markus, Poser, Sigrid, Schmidt, H., Schroter, A., Kretzschmar, H. A. +9 morecore +1 more sourceSource of variant Creutzfeldt-Jakob disease outside United Kingdom. [PDF]
, 2007 We studied the occurrence of variant Creutzfeldt-Jakob disease (vCJD) outside the United Kingdom in relation to the incidence of indigenous bovine spongiform encephalopathy (BSE) and to the level of live bovines and bovine products imported from the UK ...Cousens, Simon N, Cornelia M. van Duijn, Sanchez-Juan, Pascual, Pascual Sanchez-Juan, Will, Robert G, van Duijn, Cornelia M, Robert G. Will, Pascual Sanchez-Juan, Simon N. Cousens +8 morecore +1 more sourceRing trial of 2nd generation RT‐QuIC diagnostic tests for sporadic CJD
Annals of Clinical and Translational Neurology, 2020 Objective Real‐time quaking‐induced conversion (RT‐QuIC) assays detect prion‐seeding activity in a variety of human biospecimens, including cerebrospinal fluid and olfactory mucosa swabs.Christina D. Orrú, Bradley R. Groveman, Aaron Foutz, Matilde Bongianni, Franco Cardone, Neil McKenzie, Audrey Culeux, Anna Poleggi, Katarina Grznarova, Daniela Perra, Michele Fiorini, Xiaoqin Liu, Anna Ladogana, Marco Sbriccoli, Andrew G. Hughson, Stéphane Haïk, Alison J. Green, Michael D. Geschwind, Maurizio Pocchiari, Jiri G. Safar, Gianluigi Zanusso, Byron Caughey +21 moredoaj +1 more sourceEvidence for a pathogenic role of different mutations at codon 188 of PRNP [PDF]
, 2008 Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar or indistinguishable from sporadic CJD. Therefore determination of novel mutations in PRNP remains of major importance.Eva-Maria Grasbon-Frodl, Hans A Kretzschmar, Roeber, Sigrun, Arzberger, Thomas, Sigrun Roeber, Weber Petra, Krebs, Bjarne, Schröter, Andreas, Petra Weber, Illig, T., Zerr, I., Schröter, A., Arzberger, T., Illig Thomas, Windl, Otto, Bjarne Krebs, Wei Xiang, Hans A. Kretzschmar, Schroeter, Andreas, Kretzschmar, H.A., Inga Zerr, Grasbon-Frodl, Eva-Maria, Weber, Petra, Windl, O., Zerr, Inga, Schröter Andreas, Kretzschmar, Hans A., Xiang, W., Xiang Wei, Illig, Thomas, Zerr Inga, Thomas Illig, Vollmert, C., Grasbon-Frodl Eva-Maria, Kretzschmar Hans A., Caren Vollmert, Weber, P., Krebs Bjarne, Grasbon-Frodl, E.M., Krebs, B., Vollmert Caren, Vollmert, Caren, Roeber Sigrun, Xiang, Wei, Arzberger Thomas, Roeber, S., Windl Otto, Andreas Schröter, Otto Windl, Thomas Arzberger +49 morecore +2 more sourcesCSF concentrations of cAMP and cGMP are lower in patients with Creutzfeldt-Jakob disease but not Parkinson's disease and amyotrophic lateral sclerosis. [PDF]
, 2012 The cyclic nucleotides cyclic adenosine-3',5'-monophosphate (cAMP) and cyclic guanosine-3',5'-monophosphate (cGMP) are important second messengers and are potential biomarkers for Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and ...Oeckl, Patrick, Albert C Ludolph, Hans A Kretzschmar, Ludolph, Albert C., Markus Otto, Kretzschmar, Hans A., Petra Steinacker, Stefan Lehnert, Ferger Boris, Patrick Oeckl, Otto, Markus, Ferger, Boris, Oeckl Patrick, Ludolph Albert C., Boris Ferger, Steinacker, Petra, Otto Markus, Lehnert Stefan, Steinacker Petra, Kretzschmar Hans A., Jesse, Sarah, Lehnert, Stefan, Sarah Jesse, Jesse Sarah +23 morecore +1 more source