Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Marina, Moraitou"'
Autor:
Marina Moraitou, Georgios Sotiroudis, Nikolaos Papagiannakis, Maria M J Ferraz, Aristotelis Xenakis, Johannes M F G Aerts, Leonidas Stefanis, Helen Michelakakis
Publikováno v:
PLoS ONE, Vol 18, Iss 2, p e0277602 (2023)
It is well established that patients with Gaucher disease, as well as carriers of the disease have an increased risk for developing Parkinson's disease. A plethora of evidence suggests that disturbed α-Synuclein homeostasis is the link between Gauch
Externí odkaz:
https://doaj.org/article/b2a6a8eefd614798ba76b06cca9aa10d
Autor:
Evangelia Dimitriou, Marina Moraitou, Mónica Cozar, Jenny Serra-Vinardell, Lluïsa Vilageliu, Daniel Grinberg, Irene Mavridou, Helen Michelakakis
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100614- (2020)
Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and o
Externí odkaz:
https://doaj.org/article/db1b2d148fd249fea79ee6f766ac274f
Autor:
Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing
Externí odkaz:
https://doaj.org/article/ed28cb0f8c164a91bcb9899c190800d3
Autor:
Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, Roel Smeets, Marjan Kersten, Karin Huijben, Wee Teik Keng, Carlos Eduardo Speck‐Martins, Daniel Rocha de Carvalho, Isabela Maria Pinto Oliveira de Rizzo, Walquiria Domingues de Mello, Rebecca Heiner‐Fokkema, Kathleen Gorman, Stephanie Grunewald, Helen Michelakakis, Marina Moraitou, Diego Martinelli, Monique van Scherpenzeel, Mirian Janssen, Lonneke de Boer, Lambertus P. van den Heuvel, Christian Thiel, Dirk J. Lefeber
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 769-781
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGER
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGER
Contains fulltext : 282651.pdf (Publisher’s version ) (Open Access) Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with nonspecific neurologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad8887e9519c62164677392015f41c6
https://research.rug.nl/en/publications/43f9fccd-de47-43af-8cd8-aaa035ab7848
https://research.rug.nl/en/publications/43f9fccd-de47-43af-8cd8-aaa035ab7848
Autor:
Christos Koros, Kathrin Brockmann, Athina‐Maria Simitsi, Anastasia Bougea, Hui Liu, Ann‐Kathrin Hauser, Claudia Schulte, Stefanie Lerche, Ioanna Pachi, Nikolaos Papagiannakis, Roubina Antonelou, Athina Zahou, Isabel Wurster, Efthymia Efthymiopoulou, Ion Beratis, Matina Maniati, Marina Moraitou, Helen Michelakakis, Georgios Paraskevas, Sokratis G. Papageorgiou, Constantin Potagas, Dimitra Papadimitriou, Maria Bozi, Maria Stamelou, Thomas Gasser, Leonidas Stefanis
Publikováno v:
Movement disorders 38(5), 907-909 (2023). doi:10.1002/mds.29399
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ead54194927ab5e957b136a2e058c5da
Autor:
Christos Koros, Kathrin Brockmann, Athina-Maria Simitsi, Anastasia Bougea, Hui Liu, Ann-Kathrin Hauser, Claudia Schulte, Stefanie Lerche, Ioanna Pachi, Nikolaos Papagiannakis, Roubina Antonelou, Athina Zahou, Isabel Wurster, Efthymia Efthymiopoulou, Ion Beratis, Matina Maniati, Marina Moraitou, Helen Michelakakis, Georgios Paraskevas, Sokratis G. Papageorgiou, Constantin Potagas, Dimitra Papadimitriou, Maria Bozi, Maria Stamelou, Thomas Gasser, Leonidas Stefanis
BackgroundApolipoprotein E-ε4 (APOEε4) genotype may be associated with the development of cognitive decline in idiopathic Parkinson’s disease i(PD), however its effect in genetic PD is understudied.ObjectivesIn the current work we aimed to assess
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee2dcf8c0014a44926523b24651395a7
https://doi.org/10.1101/2022.11.06.22281991
https://doi.org/10.1101/2022.11.06.22281991
Autor:
E. Dimitriou, Jenny Serra-Vinardell, Lluïsa Vilageliu, Irene Mavridou, Helen Michelakakis, Mónica Cozar, Daniel Grinberg, Marina Moraitou
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100614-(2020)
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100614-(2020)
Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa91b1d3e287b6d58d7692b7ff67419b
http://europepmc.org/articles/PMC7284128
http://europepmc.org/articles/PMC7284128
Autor:
Christos Koros, Marina Moraitou, Nikos Papagiannakis, Athina Simitsi, Maria Bozi, Helen Michelakakis, Efthalia Angelopoulou, Leonidas Stefanis, Roubina Antonellou, Maria Stamelou
Publikováno v:
Journal of Parkinson's Disease. 8:101-105
We compared phenotypic characteristics in 35 Greek patients with Parkinson's disease (PD), carriers of GBA1 mutations (GBA-PD), with 35 Genetically Unidentified PD patients (GU-PD). We found a previously reported higher prevalence of cognitive impair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6566c8b2e83d3861170ae9041294eed
https://doi.org/10.3233/jpd-171221
https://doi.org/10.3233/jpd-171221
Autor:
Elisabeth Kapaki, Maria Stamelou, Nikolaos Papagiannakis, Christos Koros, Marina Moraitou, Stylianos Ravanidis, Helen Michelakakis, George P. Paraskevas, Athina-Maria Simitsi, Epaminondas Doxakis, Ioanna Pachi, Leonidas Stefanis, Maria Bozi, Anastasia Bougea, Matina Maniati
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 35(3)
BACKGROUND A minimally invasive test for early detection and monitoring of Parkinson's disease (PD) is a highly unmet need for drug development and planning of patient care. Blood plasma represents an attractive source of biomarkers. MicroRNAs (miRNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3faf43c85ab02536022e560e5b87cdaf
https://pubmed.ncbi.nlm.nih.gov/31853098
https://pubmed.ncbi.nlm.nih.gov/31853098
Autor:
Karin Huijben, Michèl A.A.P. Willemsen, Marina Moraitou, Elissavet Georgiadou, Mohammad Alsady, Walinka van Tol, Dirk Lefeber, Peter Van den Bergh, Helen Michelakakis, Constantinos Papadopoulos, George K. Papadimas
Publikováno v:
Journal of Inherited Metabolic Disease, 42, 5, pp. 984-992
Journal of inherited metabolic disease, Vol. 42, no. 5, p. 984-992 (2019)
Journal of Inherited Metabolic Disease, 42, 984-992
Journal of inherited metabolic disease, Vol. 42, no. 5, p. 984-992 (2019)
Journal of Inherited Metabolic Disease, 42, 984-992
The congenital disorders of glycosylation (CDG) are inborn errors of metabolism with a great genetic heterogeneity. Most CDG are caused by defects in the N-glycan biosynthesis, leading to multisystem phenotypes. However, the occurrence of tissue-rest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fae4ebf7eae1f1bd0b7a24d34ee92a6
https://doi.org/10.1002/jimd.12095
https://doi.org/10.1002/jimd.12095