Search Results - "Bourbouli, Mara"

CSF Aβ42 and Aβ42/Aβ40 Ratio in Alzheimer's Disease and Frontotemporal Dementias by Constantinides, Vasilios C, Paraskevas, George P, Boufidou, Fotini, Bourbouli, Mara, Pyrgelis, Efstratios-Stylianos, Stefanis, Leonidas, Kapaki, Elisabeth

“…Alzheimer's disease dementia (ADD) may manifest with atypical phenotypes, resembling behavioral variant frontotemporal dementia (bvFTD) and corticobasal…”
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Application of the AT(N) and Other CSF Classification Systems in Behavioral Variant Frontotemporal Dementia by Constantinides, Vasilios C, Boufidou, Fotini, Bourbouli, Mara, Pyrgelis, Efstratios-Stylianos, Ghika, Apostolia, Koros, Christos, Liakakis, George, Papageorgiou, Sokratis, Stefanis, Leonidas, Paraskevas, George P, Kapaki, Elisabeth

“…Patients with a frontotemporal lobar degeneration (FTLD) usually manifest with behavioral variant frontotemporal dementia (bvFTD). Alzheimer's disease (AD) may…”
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Does Caffeine Consumption Modify Cerebrospinal Fluid Amyloid-β Levels in Patients with Alzheimer's Disease? by Travassos, Maria, Santana, Isabel, Baldeiras, Inês, Tsolaki, Magda, Gkatzima, Olymbia, Sermin, Genc, Yener, Görsev G, Simonsen, Anja, Hasselbalch, Steen G, Kapaki, Elisabeth, Mara, Bourbouli, Cunha, Rodrigo A, Agostinho, Paula, Blennow, Kaj, Zetterberg, Henrik, Mendes, Vera M, Manadas, Bruno, de Mendon, Alexandreça

“…Caffeine may be protective against Alzheimer's disease (AD) by modulating amyloid-β (Aβ) metabolic pathways. The present work aimed to study a possible…”
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Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Patients by Bourbouli, Mara, Paraskevas, George P., Rentzos, Mihail, Mathioudakis, Lambros, Zouvelou, Vasiliki, Bougea, Anastasia, Tychalas, Athanasios, Kimiskidis, Vasilios K., Constantinides, Vasilios, Zafeiris, Spiros, Tzagournissakis, Minas, Papadimas, Georgios, Karadima, Georgia, Koutsis, Georgios, Kroupis, Christos, Kartanou, Chrisoula, Kapaki, Elisabeth, Zaganas, Ioannis

“…Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are part of the same pathophysiological spectrum and have common genetic and…”
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Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration by Paraskevas, George P, Yapijakis, Christos, Bougea, Anastasia, Constantinides, Vasilios, Bourbouli, Mara, Stamboulis, Eleftherios, Kapaki, Elisabeth

“…Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100…”
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Thyroid Autoantibodies in the Cerebrospinal Fluid of Subjects with and without Thyroid Disease: Implications for Hashimoto's Encephalopathy by Pappa, Athina, Bougea, A., Paraskevas, George P., Ilias, Ioannis, Bourbouli, Mara, Nikopoulou, Stamatina, Kapaki, Elisabeth, Karagiorga, Vasiliki

“…Introduction. Plasma antithyroid peroxidase (anti-TPO) and anti-thyroglobulin antibodies (anti-Tg) are widely used in the diagnosis of autoimmune thyroiditis…”
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Endothelial Tpl2 regulates vascular barrier function via JNK-mediated degradation of claudin-5 promoting neuroinflammation or tumor metastasis by Nanou, Aikaterini, Bourbouli, Mara, Vetrano, Stefania, Schaeper, Ute, Ley, Steven, Kollias, George

“…Increased vascular permeability and leakage are hallmarks of several pathologies and determine disease progression and severity by facilitating…”
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Localization of Human Glutamate Dehydrogenases Provides Insights into Their Metabolic Role and Their Involvement in Disease Processes by Mathioudakis, Lambros, Bourbouli, Mara, Daklada, Elisavet, Kargatzi, Sofia, Michaelidou, Kleita, Zaganas, Ioannis

“…Glutamate dehydrogenase (GDH) catalyzes the reversible deamination of l -glutamate to α-ketoglutarate and ammonia. In mammals, GDH contributes to important…”
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Cerebrospinal fluid biomarker profiling in corticobasal degeneration: Application of the AT(N) and other classification systems by Constantinides, Vasilios C., Paraskevas, George P., Boufidou, Fotini, Bourbouli, Mara, Stefanis, Leonidas, Kapaki, Elisabeth

“…Total tau (τT), phosphorylated tau (τP-181) and amyloid beta (Aβ42) are cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD). There is no consensus…”
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Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort by Mathioudakis, Lambros, Dimovasili, Christina, Bourbouli, Mara, Latsoudis, Helen, Kokosali, Evgenia, Gouna, Garyfallia, Vogiatzi, Emmanouella, Basta, Maria, Kapetanaki, Stefania, Panagiotakis, Simeon, Kanterakis, Alexandros, Boumpas, Dimitrios, Lionis, Christos, Plaitakis, Andreas, Simos, Panagiotis, Vgontzas, Alexandros, Kafetzopoulos, Dimitrios, Zaganas, Ioannis

“…•Both whole exome sequencing and genotyping was performed in the Cretan Aging Cohort.•p.Ser498Ala GLUD2 variant was more common in controls than in AD patients…”
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TARDBP pathogenic variants in patients with amyotrophic lateral sclerosis, frontotemporal dementia and Alzheimer's disease phenotypes by Mathioudakis, Lambros, Bourbouli, Mara, Tsiverdis, Ioannis, Simos, Panagiotis, Panagiotakis, Symeon, Paraskevas, George, Basta, Maria, Vgontzas, Alexandros, Kapaki, Elisavet, Zaganas, Ioannis

“…Background Genetic, cerebrospinal fluid and histopathological studies have highlighted the importance of TDP‐43 (the protein product of the TARDBP gene) in the…”
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In vivo Prevalence of Alzheimer Biomarkers in Dementia with Lewy Bodies by Paraskevas, George P, Bougea, Anastasia, Constantinides, Vasilios C, Bourbouli, Mara, Petropoulou, Olga, Kapaki, Elisabeth

“…Neuropathological studies indicate concomitant Alzheimer's disease (AD) pathology in patients with dementia with Lewy bodies (DLB). To measure cerebrospinal…”
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0962 Objective Daytime Sleepiness Is Associated With Disease Severity And Inflammation In Patients With Mild To Moderate Dementia by Basta, Maria, Vgontzas, Alexandros, Koutentaki, Eirini, Zaganas, Ioannis, Vogiatzi, Emmanouela, Gouna, Garyfalia, Bourbouli, Mara, Panagiotakis, Symeon, Kapetanaki, Stefania, Simos, Panagiotis

“…Introduction It has been reported that patients with Dementia are sleepier and that daytime sleepiness is associated with worse cognitive performance…”
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Objective Daytime Napping is Associated with Disease Severity and Inflammation in Patients with Mild to Moderate Dementia1 by Basta, Maria, Koutentaki, Eirini, Vgontzas, Alexandros, Zaganas, Ioannis, Vogiatzi, Emmanouela, Gouna, Garyfalia, Bourbouli, Mara, Panagiotakis, Symeon, Kapetanaki, Stefania, Fernandez-Mendoza, Julio, Simos, Panagiotis

“…Patients with dementia report excessive daytime sleep/sleepiness, which is associated with worse cognitive performance. Inflammatory markers may be elevated in…”
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing by Banka, Siddharth, Ciolfi, Andrea, Dallapiccola, Bruno, Gilissen, Christian, López-Martín, Estrella, Ryba, Lukas, Tartaglia, Marco, Thevenon, Julien, Tran Mau-Them, Frédéric, Votypka, Pavel, Faivre, Laurence, Gilissen, Christian, Jackson, Adam, Kleefstra, Tjitske, Santen, Gijs W.E., Verloes, Alain, Votypka, Pavel, Gao, Fei, Johari, Mridul, Morsy, Heba, Robinson, Peter, Zurek, Birte, Kegele, Josua, Scheffer, Hans, van de Warrenburg, Bart, Steehouwer, Marloes, Maddi, Vatsalya, Riaz, Umar, Dizjikan, Farid Yavari, Straub, Volker, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Gumus, Gulcin, Lagorce, David, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Evangelista, Teresinha, Metay, Corinne, Eymard, Bruno, Thomas, Coline, Spalding, Dylan, Magrinelli, Francesca, Sisodiya, Sanjay M., Zaharieva, Irina, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Piluso, Giulio, Rossi, Rachele, Matos, Ana Rita, Gullo, Irene, Fernandes, Susana, Zonneveld-Huijssoon, Eveline, van Gijn, Marielle, Mignot, Cyril, Lacombe, Didier, Holinski-Feder, Elke, Cilio, Maria-Roberta, Depondt, Chantal, Lederer, Damien, Mary, Sandrine, Pérez-Dueñas, Belén, Masó, Laura Batlle, Hemelsoet, Dimitri, Depienne, Christel, Iacomino, Michele, Scala, Marcello, Bourbouli, Mara, Radio, Francesca Clementina, De la Paz, Manuel Posada, Alonso García de la Rosa, F. Javier, Guerrini, Renzo, Chinnery, Patrick F., Schon, Katherine, Münchau, Alexander, Pauly, Martje, Toutain, Annick, Molin, Arnaud, Jouret, Béatrice, Laudier, Béatrice, Bonniaud, Bertille, Paul, Carle, Schaefer, Élise, Colin, Estelle, Prieur, Fabienne, Alessandri, Jean-Luc, Martinovic, Jelena, Lambert, Laëtitia, Bournez, Marie, Cordier-Alex, Marie-Pierre, Fradin, Mélanie, Hanna, Nadine, Chassaing, Nicolas, Naudion, Sophie, Cusin, Véronica

“…Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies…”
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Cerebrospinal Fluid Biomarker Profile in TDP-43-Related Genetic Frontotemporal Dementia by Kapaki, Elisabeth, Boufidou, Foteini, Bourbouli, Mara, Pyrgelis, Efstratios-Stylianos, Constantinides, Vasilios C., Anastassopoulou, Cleo, Paraskevas, George P.

“…Cerebrospinal fluid (CSF) biomarkers, namely total tau, phospho-tau and amyloid beta peptides, have received much attention specifically regarding Alzheimer’s…”
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing by Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G, Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian

“…Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent…”
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Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene by Bougea, Anastasia, Koros, Christos, Stamelou, Maria, Simitsi, Athina, Papagiannakis, Nikolaos, Antonelou, Roubina, Papadimitriou, Dimitra, Breza, Marianthi, Tasios, Konstantinos, Fragkiadaki, Stella, Geronicola Trapali, Xenia, Bourbouli, Mara, Koutsis, Georgios, Papageorgiou, Sokratis G, Kapaki, Elisabeth, Paraskevas, George P, Stefanis, Leonidas

“…Abstract Introduction The p.A53T point mutation in SNCA, the alpha-synuclein gene, has been linked to a rare dominant form of Parkinson's disease (PD). Methods…”
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The multifaceted clinical presentation of VCP-proteinopathy in a Greek family by PAPADIMAS, GEORGE K., PARASKEVAS, GEORGE P., ZAMBELIS, THOMAS, KARAGIAOURIS, CHRISOSTOMOS, BOURBOULI, MARA, BOUGEA, ANASTASIA, WALTER, MAGGIE C., SCHUMACHER, NICOLAS U., KRAUSE, SABINE, KAPAKI, ELISABETH

“…VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of…”
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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses by Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., Laurie, Steven

“…We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease…”
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