Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Eva Parobkova"'
Autor:
Eva Parobkova, Julie van der Zee, Lubina Dillen, Christine Van Broeckhoven, Robert Rusina, Radoslav Matej
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Background: Sporadic Creutzfeldt–Jakob disease (sCJD) is the most common type of a group of transmissible spongiform encephalopathies (prion diseases). The etiology of the sporadic form of CJD is still unclear. sCJD can occur in combination with ot
Externí odkaz:
https://doaj.org/article/b4da639e49a44ee7af41495611c96585
Autor:
Nikol Jankovska, Robert Rusina, Jiri Keller, Jaromir Kukal, Magdalena Bruzova, Eva Parobkova, Tomas Olejar, Radoslav Matej
Publikováno v:
Biomedicines, Vol 10, Iss 3, p 680 (2022)
Creutzfeldt–Jakob disease (CJD), the most common human prion disorder, may occur as “pure” neurodegeneration with isolated prion deposits in the brain tissue; however, comorbid cases with different concomitant neurodegenerative diseases have be
Externí odkaz:
https://doaj.org/article/12872e8d15424f4893994aa58940fd61
Autor:
Nikol Jankovska, Robert Rusina, Magdalena Bruzova, Eva Parobkova, Tomas Olejar, Radoslav Matej
Publikováno v:
Diagnostics, Vol 11, Iss 10, p 1821 (2021)
Human prion disorders (transmissible spongiform encephalopathies, TSEs) are unique, progressive, and fatal neurodegenerative diseases caused by aggregation of misfolded prion protein in neuronal tissue. Due to the potential transmission, human TSEs a
Externí odkaz:
https://doaj.org/article/760cf9e50f9e4926824bcfb6b79e2ff8
Autor:
Eva Parobkova, Radoslav Matej
Publikováno v:
Diagnostics, Vol 11, Iss 3, p 509 (2021)
Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal progressive degenerative disorder of motor neurons that overlaps with frontotemporal lobar degeneration (FTLD) clinically, morphologically, and genetically. Although many distinct
Externí odkaz:
https://doaj.org/article/1ad9cce68a4d4469a3619ec930a7e117
Publikováno v:
Prion
article-version (VoR) Version of Record
article-version (VoR) Version of Record
Interactions between prion protein (PrP) and tau protein have long been discussed, especially in relation to the pathogenesis of neurodegenerative diseases. The presence of tauopathy in the genetic forms of Creutzfeldt-Jakob disease (CJD) brains is n
Publikováno v:
Česká a slovenská neurologie a neurochirurgie. :100-105
Autor:
Tomas Olejar, Magdalena Bruzova, Nikol Jankovska, Eva Parobkova, Radoslav Matej, Robert Rusina
Publikováno v:
Diagnostics
Diagnostics, Vol 11, Iss 1821, p 1821 (2021)
Diagnostics, Vol 11, Iss 1821, p 1821 (2021)
Human prion disorders (transmissible spongiform encephalopathies, TSEs) are unique, progressive, and fatal neurodegenerative diseases caused by aggregation of misfolded prion protein in neuronal tissue. Due to the potential transmission, human TSEs a
Autor:
Irena Rektorová, Eva Parobkova, Zuzana Musova, Adam Tesar, Radoslav Matej, Silvie Johanidesova, Jaromir Kukal, Robert Rusina, Martin Vyhnalek, Magdalena Smetakova, Ilona Eliasova, Jiri Keller
Publikováno v:
Annals of neurologyReferences. 86(5)
Gerstmann-Straussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from 7 Czech patients and 87 published ca
Autor:
Ellen Gelpi, Mathieu Vandenbulcke, Yalda Baradaran-Heravi, Alex Michotte, Alexandre de Mendonça, Elisa Bonomi, Peter Paul De Deyn, Peter Heutink, Bruno Bergmans, Matthew J. Fraidakis, Matthis Synofzik, Dirk Peeters, Eva Parobkova, Christine Van Broeckhoven, Patrick Santens, Peter De Jonghe, Radoslav Matej, Maria Rosário Almeida, Rik Vandenberghe, Hung Phuoc Nguyen, Pau Pastor, Alessandro Padovani, Gabriel Miltenberger-Miltenyi, Jan De Bleecker, Philip Van Damme, Sara Van Mossevelde, Isabel Santana, Ricard Rojas-García, Olivier Deryck, Julie van der Zee, Eric Salmon, Ana Verdelho, Christiana Willems, Nina De Klippel, Miquel Aguilar, Lubina Dillen, Alberto Lleó, Sergi Borrego-Écija, Sebastiaan Engelborghs, Sandro Sorbi, Jonathan Baets, Camilla Ferrari, Monica Diez-Fairen, Silvia Bagnoli, Barbara Borroni, Raquel Sánchez-Valle, Johan Goeman, Anne Sieben, Ignacio Illán-Gala, Patrick Cras, Panagiotis Alexopoulos, Janina Turon-Sans, Benedetta Nacmias, Adrian Ivanoiu, Irene Piaceri, Janine Diehl-Schmid, Jan Versijpt, Silvana Archettim, C. Ferreira, Frederico Simões do Couto, Jordi Clarimón, Dirk Nuytten, Javier Simón-Sánchez, Carlo Wilke
Publikováno v:
NEUROBIOLOGY OF AGING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neurobiology of aging, Vol. 69, p. 293.e9-293.e11 (2018)
Neurobiology of aging
Neurobiology of aging 69, 293.e9-293.e11 (2018). doi:10.1016/j.neurobiolaging.2018.05.005
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neurobiology of aging, Vol. 69, p. 293.e9-293.e11 (2018)
Neurobiology of aging
Neurobiology of aging 69, 293.e9-293.e11 (2018). doi:10.1016/j.neurobiolaging.2018.05.005
We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32b1513e7629a84ce2ff2b34a8260b64
https://lirias.kuleuven.be/handle/123456789/661661
https://lirias.kuleuven.be/handle/123456789/661661
Autor:
Patrick Cras, Panagiotis Alexopoulos, Bart Dermaut, Robert Perneczky, Raquel Sánchez-Valle, Janine Diehl-Schmid, Christine Van Broeckhoven, Karin Peeters, Peter Paul De Deyn, Marc Cruts, Patrick Santens, Marleen Van den Broeck, Alberto Lleó, Eva Parobkova, Jennifer Müller vom Hagen, Radoslav Matěj, Rik Vandenberghe, Ivailo Tournev, Anne Sieben, Peter De Jonghe, Tobias B. Haack, Julie van der Zee, Eric Salmon, Stayko Sarafov, Philip Van Damme, Sara Ortega-Cubero, Gabriel Miltenberger-Miltenyi, Alexandre de Mendonça, Isabel Santana, Beatriz Santiago, Tim Van Langenhove, Benedetta Nacmias, William Deschamps, Alessandro Padovani, Huei Hsin Chiang, Oriol Dols-Icardo, Sebastiaan Engelborghs, Agustín Ruiz, Céline Merlin, Frank Jessen, Ludger Schöls, Sandro Sorbi, Silvia Testi, Håkan Thonberg, Roberta Ghidoni, Maria Rosário Almeida, Jean Jacques Martin, Frederico Simões do Couto, Holger Prokisch, Maria Mattheijssens, Isabel Hernández, Pau Pastor, Jordi Clarimón, Tim M. Strom, Wim Robberecht, Matthis Synofzik, Kristel Sleegers, Ellen Gelpi, Mathieu Vandenbulcke, Alfredo Ramirez, Christian Bonvicini, Giuliano Binetti, Cristina Razquin, Gian Maria Fabrizi, Mercè Boada, Albena Jordanova, Michael T. Heneka, Gabor G. Kovacs, Silvia Bagnoli, Barbara Borroni, Giovanni B. Frisoni, Katrien Smets, Annelies Laureys, Albert Lladó, Luisa Benussi, Walter Maetzler, Lubina Dillen, Silvana Archetti, Thomas Ströbel, Caroline Graff
Publikováno v:
Acta neuropathologica 128(3), 397-410 (2014). doi:10.1007/s00401-014-1298-7
Acta neuropathologica
Acta Neuropathologica
ACTA NEUROPATHOLOGICA
Acta Neuropathologica, Vol. 128, No 3 (2014) pp. 397-410
Europe PubMed Central
Acta Neuropathol. 128, 397-410 (2014)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Acta neuropathologica
Acta Neuropathologica
ACTA NEUROPATHOLOGICA
Acta Neuropathologica, Vol. 128, No 3 (2014) pp. 397-410
Europe PubMed Central
Acta Neuropathol. 128, 397-410 (2014)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f186372bfea25f255c03793f80c9f421
https://pub.dzne.de/record/141202
https://pub.dzne.de/record/141202