Results 1 to 10 of about 1,488 (116)
P1651: IMPACT OF NEUTROPHIL EXTRACELLULAR TRAPS (NETS) AND MACROPHAGE ACTIVATION IN THE THROMBOTIC EVENTS IN COVID-19 PATIENTS
HemaSphere, 2023 HemaSphere, Volume 7, Issue S3, August 2023.Irene Serrano-Gonzalo, Bárbara Menéndez-Jandula, Isidro Arévalo-Vargas, Ester Franco-García, Carlos Lahoz, Paz Latre, Laura López de Frutos, Ralf Köhler, Pilar Giraldo +8 moredoaj +2 more sourcesAdvantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease
Frontiers in Medicine, 2023 Gaucher disease (GD) is a genetic lysosomal disorder characterized by high bone marrow (BM) involvement and skeletal complications. The pathophysiology of these complications is not fully elucidated.Esther Valero-Tena, Esther Valero-Tena, Mercedes Roca-Espiau, Jose Verdú-Díaz, Jordi Diaz-Manera, Marcio Andrade-Campos, Marcio Andrade-Campos, Marcio Andrade-Campos, Pilar Giraldo, Pilar Giraldo +9 moredoaj +1 more sourceEmbracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Movement Disorders, Volume 38, Issue 2, Page 286-303, February 2023., 2023 Abstract Background
As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of Eva‐Juliane Vollstedt, Susen Schaake, Katja Lohmann, Shalini Padmanabhan, Alexis Brice, Suzanne Lesage, Christelle Tesson, Marie Vidailhet, Isabel Wurster, Faycel Hentati, Anat Mirelman, Nir Giladi, Karen Marder, Cheryl Waters, Stanley Fahn, Meike Kasten, Norbert Brüggemann, Max Borsche, Tatiana Foroud, Eduardo Tolosa, Alicia Garrido, Grazia Annesi, Monica Gagliardi, Maria Bozi, Leonidas Stefanis, Joaquim J. Ferreira, Leonor Correia Guedes, Micol Avenali, Simona Petrucci, Lorraine Clark, Ekaterina Y. Fedotova, Natalya Y. Abramycheva, Victoria Alvarez, Manuel Menéndez‐González, Silvia Jesús Maestre, Pilar Gómez‐Garre, Pablo Mir, Andrea Carmine Belin, Caroline Ran, Chin‐Hsien Lin, Ming‐Che Kuo, David Crosiers, Zbigniew K. Wszolek, Owen A. Ross, Joseph Jankovic, Kenya Nishioka, Manabu Funayama, Jordi Clarimon, Caroline H. Williams‐Gray, Marta Camacho, Mario Cornejo‐Olivas, Luis Torres‐Ramirez, Yih‐Ru Wu, Guey‐Jen Lee‐Chen, Ana Morgadinho, Teeratorn Pulkes, Pichet Termsarasab, Daniela Berg, Gregor Kuhlenbäumer, Andrea A. Kühn, Friederike Borngräber, Giuseppe de Michele, Anna De Rosa, Alexander Zimprich, Andreas Puschmann, George D. Mellick, Jolanta Dorszewska, Jonathan Carr, Rosangela Ferese, Stefano Gambardella, Bruce Chase, Katerina Markopoulou, Wataru Satake, Tatsushi Toda, Malco Rossi, Marcelo Merello, Timothy Lynch, Diana A. Olszewska, Shen‐Yang Lim, Azlina Ahmad‐Annuar, Ai Huey Tan, Bashayer Al‐Mubarak, Hasmet Hanagasi, Dariusz Koziorowski, Sibel Ertan, Gençer Genç, Patricia de Carvalho Aguiar, Melinda Barkhuizen, Marcia M.G. Pimentel, Rachel Saunders‐Pullman, Bart van de Warrenburg, Susan Bressman, Mathias Toft, Silke Appel‐Cresswell, Anthony E. Lang, Matej Skorvanek, Agnita J.W. Boon, Rejko Krüger, Esther M. Sammler, Vitor Tumas, Bao‐rong Zhang, Gaetan Garraux, Sun Ju Chung, Yun Joong Kim, Juliane Winkelmann, Carolyn M. Sue, Eng‐King Tan, Joana Damásio, Péter Klivényi, Vladimir S. Kostic, David Arkadir, Mika Martikainen, Vanderci Borges, Jens Michael Hertz, Laura Brighina, Mariana Spitz, Oksana Suchowersky, Olaf Riess, Parimal Das, Brit Mollenhauer, Emilia M. Gatto, Maria Skaalum Petersen, Nobutaka Hattori, Ruey‐Meei Wu, Sergey N. Illarioshkin, Enza Maria Valente, Jan O. Aasly, Anna Aasly, Roy N. Alcalay, Avner Thaler, Matthew J. Farrer, Kathrin Brockmann, Jean‐Christophe Corvol, Christine Klein, and on behalf of the MJFF Global Genetic Parkinson's Disease Study Group, Anna Aasly, Jan O. Aasly, Natalya Y. Abramycheva, Azlina Ahmad‐Annuar, Alberto Albanese, Roy N. Alcalay, Amaal Aldakheel, Thamer Alkhairallah, Bashayer Al‐Mubarak, Nada Al‐tassan, Victoria Alvarez, Paolo Amami, Grazia Annesi, Silke Appel‐Cresswell, Marco Antonio Araujo Leite, David Arkadir, Micol Avenali, Henrique Ballalai Ferraz, Soraya Bardien, Melinda Barkhuizen, Matthew J. Barrett, A. Nazlı Başak, Daniela Berg, Basar Bilgic, Bastiaan R. Bloem, Vincenzo Bonifati, Agnita J. W. Boon, Vanderci Borges, Friederike Borngräber, Max Borsche, Maria Bozi, Susan Bressman, Alexis Brice, Laura Brighina, Kathrin Brockmann, Norbert Brüggemann, Marta Camacho, Andrea Carmine Belin, Jonathan Carr, Martin Emiliano Cesarini, Mario Cornejo‐Olivas, Bruce Chase, Sun Ju Chung, Leonor Correia Guedes, Jordi Clarimon, Lorraine Clark, Jean‐Christophe Corvol, David Crosiers, Parimal Das, Patricia de Carvalho Aguiar, Joana Damásio, Giuseppe de Michele, Anna De Rosa, Elena Dieguez, Jolanta Dorszewska, Sibel Ertan, Stanley Fahn, Matthew J. Farrer, Ekaterina Y. Fedotova, Rosangela Ferese, Joaquim J. Ferreira, Tatiana Foroud, Manabu Funayama, Victor S. C. Fung, Monica Gagliardi, Stefano Gambardella, Gaetan Garraux, Alicia Garrido, Emilia M. Gatto, Gençer Genç, Nir Giladi, Pilar Gómez‐Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycel Hentati, Jens Michael Hertz, Sergey N. Illarioshkin, Joseph Jankovic, Cristina Januario, Silvia Jesús Maestre, Valtteri Kaasinen, Meike Kasten, Hiroshi Kataoka, Anneke A. Kievit, Yun Joong Kim, Christine Klein, Péter Klivényi, Vladimir S. Kostic, Dariusz Koziorowski, Rejko Krüger, Andrea A. Kühn, Gregor Kuhlenbäumer, Ming‐Che Kuo, Anthony E. Lang, Guey‐Jen Lee‐Chen, Suzanne Lesage, Jia Lun Lim, Shen‐Yang Lim, Chin‐Hsien Lin, Katja Lohmann, Timothy Lynch, Karen Marder, Katerina Markopoulou, Mika Martikainen, Patrick May, Allan McCarthy, George D. Mellick, Manuel Menéndez‐González, Marcelo Merello, Pablo Mir, Anat Mirelman, Brit Mollenhauer, Hugo Morales Briceno, Ana Morgadinho, Huw Morris, Alexandra Mosejova, Kenya Nishioka, Özgür Öztop Çakmak, Diana A. Olszewska, Avi Orr‐Urtreger, Sinthuja Pachchek, Shalini Padmanabhan, Maria Teresa Periñán, Simona Petrucci, Marcia M. G. Pimentel, Radha Procopio, Teeratorn Pulkes, Andreas Puschmann, Caroline Ran, Olaf Riess, Owen A. Ross, Malco Rossi, Javier Ruiz‐Martinez, Esther M. Sammler, João Santos Pereira, Wataru Satake, Rachel Saunders‐Pullman, Susen Schaake, Maria Skaalum Petersen, Matej Skorvanek, Leonidas Stefanis, Alexandra I. Soto‐Beasley, Mário Sousa, Mariana Spitz, Oksana Suchowersky, Carolyn M. Sue, Ai Huey Tan, Eng‐King Tan, Avner Thaler, Fatih Tepgeç, Pichet Termsarasab, Christelle Tesson, Tatsushi Toda, Mathias Toft, Eduardo Tolosa, Luis Torres‐Ramirez, Vitor Tumas, Oya Uyguner, Enza Maria Valente, Bart van de Warrenburg, Marie Vidailhet, Eva‐Juliane Vollstedt, Ronald L. Walton, Cheryl Waters, Caroline H. Williams‐Gray, Juliane Winkelmann, Yih‐Ru Wu, Isabel Wurster, Zbigniew K. Wszolek, Ruey‐Meei Wu, Bao‐rong Zhang, Alexander Zimprich +306 morewiley +1 more sourceCSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia
Annals of Clinical and Translational Neurology, Volume 9, Issue 11, Page 1764-1777, November 2022., 2022 Abstract Background
Neuroinflammation has been shown to be an important pathophysiological disease mechanism in frontotemporal dementia (FTD). This includes activation of microglia, a process that can be measured in life through assaying different glia‐derived biomarkers in cerebrospinal fluid. However, only a few studies so far have taken place in FTD,Ione O. C. Woollacott, Imogen J. Swift, Aitana Sogorb‐Esteve, Carolin Heller, Kathryn Knowles, Arabella Bouzigues, Lucy L. Russell, Georgia Peakman, Caroline V. Greaves, Rhian Convery, Amanda Heslegrave, James B. Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, John C. van Swieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R. Butler, Caroline Graff, Alexander Gerhard, Robert Laforce, Raquel Sanchez‐Valle, Alexandre de Mendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Markus Otto, Florence Pasquier, Isabel Santana, Henrik Zetterberg, Jonathan D. Rohrer, on behalf of the Genetic FTD Initiative, GENFI, Annabel Nelson, Martina Bocchetta, David Cash, David L. Thomas, Emily Todd, Hanya Benotmane, Jennifer Nicholas, Kiran Samra, Rachelle Shafei, Carolyn Timberlake, Thomas Cope, Timothy Rittman, Alberto Benussi, Enrico Premi, Roberto Gasparotti, Silvana Archetti, Stefano Gazzina, Valentina Cantoni, Andrea Arighi, Chiara Fenoglio, Elio Scarpini, Giorgio Fumagalli, Vittoria Borracci, Giacomina Rossi, Giorgio Giaccone, Giuseppe Di Fede, Paola Caroppo, Sara Prioni, Veronica Redaelli, David Tang‐Wai, Ekaterina Rogaeva, Miguel Castelo‐Branco, Morris Freedman, Ron Keren, Sandra Black, Sara Mitchell, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Jackie Poos, Janne M. Papma, Lucia Giannini, Rick van Minkelen, Yolande Pijnenburg, Benedetta Nacmias, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Michele Veldsman, Christin Andersson, Hakan Thonberg, Linn Öijerstedt, Vesna Jelic, Paul Thompson, Tobias Langheinrich, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Nuria Bargalló, Sergi Borrego‐Ecija, Ana Verdelho, Carolina Maruta, Catarina B. Ferreira, Gabriel Miltenberger, Frederico Simões do Couto, Alazne Gabilondo, Ana Gorostidi, Jorge Villanua, Marta Cañada, Mikel Tainta, Miren Zulaica, Myriam Barandiaran, Patricia Alves, Benjamin Bender, Carlo Wilke, Lisa Graf, Annick Vogels, Mathieu Vandenbulcke, Philip Van Damme, Rose Bruffaerts, Koen Poesen, Pedro Rosa‐Neto, Serge Gauthier, Agnès Camuzat, Alexis Brice, Anne Bertrand, Aurélie Funkiewiez, Daisy Rinaldi, Dario Saracino, Olivier Colliot, Sabrina Sayah, Catharina Prix, Elisabeth Wlasich, Olivia Wagemann, Sandra Loosli, Sonja Schönecker, Tobias Hoegen, Jolina Lombardi, Sarah Anderl‐Straub, Adeline Rollin, Gregory Kuchcinski, Maxime Bertoux, Thibaud Lebouvier, Vincent Deramecourt, Beatriz Santiago, Diana Duro, Maria João Leitão, Maria Rosario Almeida, Miguel Tábuas‐Pereira, Sónia Afonso +152 morewiley +1 more sourceReal life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project
Orphanet Journal of Rare Diseases, 2023 Background The availability of multiple treatments for type 1 Gaucher disease increases the need for real-life studies to evaluate treatment efficacy and safety and provide clinicians with more information to choose the best personalized therapy for ...Irene Serrano-Gonzalo, Laura López de Frutos, Carlos Lahoz-Gil, Francisco Delgado-Mateos, María Ángeles Fernández-Galán, Montserrat Morales-Conejo, María Victoria Calle-Gordo, Daiana Ibarretxe-Gerediaga, Andrés Madinaveitia-Ochoa, Antonio Albarracin-Arraigosa, José Balanzat-Muñoz, Patricia Correcher-Medina, Luis Javier García-Frade, Jesús María Hernández-Rivas, Francesca Labbadia, Jesus Miguel López-Dupla, María Luisa Lozano-Almela, Elvira Mora-Casterá, María Soledad Noya-Pereira, María Ángeles Ruíz-Guinaldo, María del Mar Tormo-Díaz, Isidro Vitoria-Miñana, Isidro Arévalo-Vargas, Marcio Andrade-Campos, Pilar Giraldo +24 moredoaj +1 more sourceIdentification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease
Orphanet Journal of Rare Diseases, 2020 Background Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed.Marcio M. Andrade-Campos, Laura López de Frutos, Jorge J. Cebolla, Irene Serrano-Gonzalo, Blanca Medrano-Engay, Mercedes Roca-Espiau, Beatriz Gomez-Barrera, Jorge Pérez-Heredia, David Iniguez, Pilar Giraldo +9 moredoaj +1 more sourceEnfermedad de Gaucher: una enfermedad multisistémica
Galicia Clínica, 2021 La enfermedad de Gaucher es un trastorno autosómico recesivo raro debido a la ausencia de la enzima glucocerebrosidasa, produciéndose acumulación de glucocerebrósidos en el sistema retículo endotelial. Se manifiesta por hepatoesplenomegalia, alteraciones Alberto Rivera Gallego, Rut Lorenzo Castro, Iria Villaverde Alvarez +2 moredoaj +1 more sourceLong-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
Molecular Genetics and Metabolism Reports, 2021 Gaucher disease is renowned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG ...Guillermo I. Drelichman, Nicolas Fernández Escobar, Barbara C. Soberon, Nora F. Basack, Joaquin Frabasil, Andrea B. Schenone, Gabriel Aguilar, Maria S. Larroudé, James R. Knight, Dejian Zhao, Jiapeng Ruan, Pramod K. Mistry +11 moredoaj +1 more source
