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7 p, 663.7 KB |
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
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Verheijen, Jan (University of Antwerp) ;
van der Zee, Julie (University of Antwerp) ;
Gijselinck, Ilse (University of Antwerp) ;
Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ;
Dillen, Lubina (University of Antwerp) ;
Heeman, Bavo (University of Antwerp) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Lladó, Albert (Hospital Clínic i Provincial de Barcelona) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Pastor, Maria A. (Clínica Universidad de Navarra) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
de Mendonça, Alexandre (University of Lisbon) ;
Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Nacmias, Benedetta (University of Florence) ;
Almeida, Maria Rosário (University of Coimbra) ;
Borroni, Barbara (University of Brescia) ;
Matej, Radoslav (Thomayer Hospital in Prague) ;
Ruiz, Agustín (Fundació ACE) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Deyn, Peter P. (University Hospital Antwerp (Bèlgica)) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Sleegers, Kristel (University of Antwerp) ;
Goeman, Johan ;
Nuytten, Dirk ;
Vandenbulcke, Mathieu ;
Santens, Patrick 700 1_ ;
Sieben, Anne ;
Dermaut, Bart ;
Versijpt, Jan ;
Michotte, Alex ;
Deryck, Olivier ;
Bergmans, Bruno ;
Willems, Christiana ;
Ivanoiu, Adrian ;
Salmon, Eric ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Sorbi, Sandro ;
Bessi, Valentina ;
Bagnoli, Silvia ;
Santana, Isabel ;
Simões do Couto, Frederico ;
Martins, Madalena ;
Thonberg, Häkan ;
Fratiglioni, Laura ;
Padovani, Alessandro ;
Rohan, Zdenek ;
Razquin, Cristina ;
Lorenzo, Elena ;
Iglesias, Elena ;
Seijo-Martínez, Manuel ;
Rene, Ramon ;
Gascon, Jordi ;
Campdelacreu, Jaume ;
Koutroumani, Maria ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. [...]
2018 -  10.1016/j.neurobiolaging.2017.10.012
Neurobiology of Aging, Vol. 62 (february 2018) , p. 245.e1-245.e7
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2.
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9 p, 241.8 KB |
Severe Disease in Patients With Recent-Onset Psoriatic Arthritis. Prediction Model Based on Machine Learning
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Queiro, R. (Universidad de Oviedo) ;
Seoane-Mato, D. (Sociedad Española de Reumatología) ;
Laiz, Ana (Institut d'Investigació Biomèdica Sant Pau) ;
Galíndez Agirregoikoa, Eva (Hospital Universitario Basurto) ;
Montilla, C. (Hospital Universitario de Salamanca) ;
Park, Hye-Sang (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Pinto Tasende, J.A. (Complejo Hospitalario Universitario de A Coruña) ;
Bethencourt Baute, Juan José (Hospital Universitario de Canarias (La Laguna)) ;
Joven Ibáñez, B. (Hospital Universitario) ;
Toniolo, E. (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears)) ;
Ramírez, Julio (Hospital Clínic i Provincial de Barcelona) ;
Pruenza García-Hinojosa, C. (Universidad Autónoma de Madrid) ;
Universitat Autònoma de Barcelona
To identify patient- and disease-related characteristics that make it possible to predict higher disease severity in recent-onset PsA. We performed a multicenter observational prospective study (2-year follow-up, regular annual visits). [...]
2022 - 10.3389/fmed.2022.891863
Frontiers in Medicine, Vol. 9 (28 2022) , p. 891863
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3.
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9 p, 1.1 MB |
Minimal disease activity (MDA) in patients with recent-onset psoriatic arthritis : predictive model based on machine learning
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Queiro, R. (Universidad de Oviedo) ;
Seoane-Mato, D. (Sociedad Española de Reumatología) ;
Laiz, Ana (Institut d'Investigació Biomèdica Sant Pau) ;
Agirregoikoa, E.G. (Hospital Universitario Basurto) ;
Montilla, C. (Hospital Universitario de Salamanca) ;
Park, Hye-Sang (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Pinto-Tasende, J.A. (Complejo Hospitalario Universitario de A Coruña) ;
Bethencourt Baute, Juan José (Hospital Universitario de Canarias (La Laguna) ;
Ibáñez, B.J. (Hospital Universitario 12 de Octubre) ;
Toniolo, E. (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears)) ;
Ramírez, Julio (Hospital Clínic i Provincial de Barcelona) ;
García, A.S. (Universidad Autónoma de Madrid) ;
Cañete, J. D. ;
Juanola, X. ;
Fiter, J. ;
Gratacós, J. ;
Rodriguez-Moreno, J. ;
Rosa, J.N. ;
Martín, A.L. ;
García, A.B. ;
Segura, P.C. ;
López-Ferrer, Anna (Institut d'Investigació Biomèdica Sant Pau) ;
Barrio, S.P. ;
Plata Izquierdo, A.J. ;
Bustabad, S. ;
Guimerá Martín-Neda, F.J. ;
Capdevilla, E.F. ;
Díaz, R.R. ;
Cuervo, A. ;
Gibert, M.A. ;
Larraz, P.T. ;
de la Morena Barrio, I. ;
Lanza, L.P. ;
Sanchís, D.B. ;
Mesquida, C.M. ;
Murillo, C. ;
Moreno Ramos, M.J. ;
Beteta, M.D. ;
Guillén, P.S.P. ;
Oliveira, L.L. ;
Marco, T.N. ;
Cebrián, L. ;
De la Cueva, Pablo ;
Steiner, M. ;
Muñoz-Fernández, S. ;
Garrido, R.V. ;
León, M. ;
Rubio, E. ;
Jiménez, A.M. ;
Fernández-Freire, L. R. ;
Luezas, J.M. ;
Sánchez-González, M.D. ;
Muñoz, C.S. ;
Senabre, J.M. ;
Rosas, J.C. ;
Soler, G.S. ;
Mataix Díaz, F.J. ;
Nieto-González, J.C. ;
González, C. ;
Ovalles Bonilla, J.G. ;
Rodríguez, O.B. ;
Medina, F.J.N. ;
Luján, D. ;
Ruiz Montesino, M.D. ;
Carrizosa Esquivel, A.M. ;
Fernández-Carballido, C. ;
Martínez-Vidal, M.P. ;
Fernández, L.G. ;
Jovani, V. ;
Alameda, R.C. ;
Sabater, S.G. ;
Romero, I.B. ;
Urruticoechea-Arana, A. ;
Torres, M.S. ;
Almodóvar, Raquel ;
López Estebaranz, J.L. ;
López Montilla, M.D. ;
García-Nieto, A.V. ;
Univetrsitat Autònoma de Barcelona
Very few data are available on predictors of minimal disease activity (MDA) in patients with recent-onset psoriatic arthritis (PsA). Such data are crucial, since the therapeutic measures used to change the adverse course of PsA are more likely to succeed if we intervene early. [...]
2022 - 10.1186/s13075-022-02838-2
Arthritis research & therapy, Vol. 24 Núm. 1 (december 2022) , p. 153
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9 p, 694.0 KB |
Influence of age on the occurrence of adverse events in rheumatic patients at the onset of biological treatment : Data from the BIOBADASER III register
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Vela, Paloma (ISABIAL) ;
Sanchez-Piedra, Carlos (Unidad de Investigación ser) ;
Pérez-García, Carolina (Hospital del Mar (Barcelona, Catalunya)) ;
Castro-Villegas, María C. (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ;
Freire, Mercedes (Hospital A Coruña) ;
Mateo, Lourdes (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Díaz Torne, César (Institut d'Investigació Biomèdica Sant Pau) ;
Bohórquez, Cristina (Hospital Príncipe de Asturias) ;
Blanco-Madrigal, Juan M. (Hospital de Basurto (Bilbao, Biscaia)) ;
Ros-Vilamajo, Inmaculada (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears)) ;
Gómez, Silvia (ISABIAL) ;
Caño, Rocio (ISABIAL) ;
Sánchez-Alonso, Fernando (Unidad de Investigación ser) ;
Díaz-González, Federico (Hospital Universitario de Canarias (La Laguna)) ;
Gómez-Reino, Juan J. (Hospital de Santiago) ;
Universitat Autònoma de Barcelona
To assess whether age, at the beginning of biologic treatment, is associated with the time a first adverse event (AE) appears in patients with rheumatoid arthritis (RA), ankylosing spondylitis (AS), or psoriatic arthritis (PsA). [...]
2020 - 10.1186/s13075-020-02231-x
Arthritis research & therapy, Vol. 22 Núm. 1 (15 2020) , p. 143
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18 p, 1.0 MB |
NRN1 Gene as a Potential Marker of Early-Onset Schizophrenia : Evidence from Genetic and Neuroimaging Approaches
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Almodóvar-Payá, Carmen (Instituto de Salud Carlos III) ;
Guardiola-Ripoll, Maria (Instituto de Salud Carlos III) ;
Giralt López, Maria (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Gallego, Carme (Molecular Biology Institute of Barcelona) ;
Salgado-Pineda, Pilar (Centro de Investigación Biomédica en Red de Salud Mental) ;
Miret, Salvador (Hospital Universitari Santa Maria de Lleida) ;
Salvador, Raymond (Centro de Investigación Biomédica en Red de Salud Mental) ;
Muñoz, María J. (Complex Assistencial en Salut Mental Benito Menni (Sant Boi de Llobregat, Catalunya)) ;
Lázaro, Luisa (Hospital Clínic i Provincial de Barcelona) ;
Guerrero-Pedraza, Amalia (Complex Assistencial en Salut Mental Benito Menni (Sant Boi de Llobregat, Catalunya)) ;
Parellada, Mara (Instituto de Investigación Sanitaria del Hospital Gregorio Marañón) ;
Carrión, María I. (Hospital Universitario de Navarra) ;
Cuesta, Manuel J. (Instituto de Investigación Sanitaria de Navarra) ;
Maristany, Teresa (Hospital Sant Joan de Déu Fundació de Recerca) ;
Sarró, Salvador (Centro de Investigación Biomédica en Red de Salud Mental) ;
Fañanás, Lourdes (Universitat de Barcelona. Institut de Biomedicina) ;
Callado, Luis F. (Instituto de Salud Carlos III) ;
Arias, Barbara (Universitat de Barcelona. Institut de Biomedicina) ;
Pomarol-Clotet, Edith (Centro de Investigación Biomédica en Red de Salud Mental) ;
Fatjó-Vilas, Mar (Departament de Biologia Evolutiva, Ecología i Ciències Ambientals, Universitat de Barcelona (UB))
Included in the neurotrophins family, the Neuritin 1 gene (NRN1) has emerged as an attractive candidate gene for schizophrenia (SZ) since it has been associated with the risk for the disorder and general cognitive performance. [...]
2022 - 10.3390/ijms23137456
International journal of molecular sciences, Vol. 23 Num. 13 (july 2022)
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8 p, 407.2 KB |
Genetics : Is LADA just late onset type 1 diabetes?
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Hernández, Marta (Institut de Recerca Biomèdica de Lleida) ;
Nóvoa-Medina, Y. (Instituto Universitario de Investigaciones Biomédicas y Sanitarias. Universidad de Las Palmas de Gran Canaria) ;
Faner, R. (Banc de Sang i Teixits. Laboratori d'Immunogenètica i Histocompatibilitat) ;
Palou, E. (Banc de Sang i Teixits. Laboratori d'Immunogenètica i Histocompatibilitat) ;
Esquerda, A. (Hospital Universitari Arnau de Vilanova) ;
Castelblanco, Esmeralda (Washington University School of Medicine) ;
Wägner, A.M. (Complejo Hospitalario Universitario Insular Materno-Infantil. Servicio de Endocrinología y Nutrición) ;
Mauricio Puente, Dídac (Institut d'Investigació Biomèdica Sant Pau)
Background: There is a controversy regarding Latent Autoimmune Diabetes in Adults (LADA) classification and whether it should be considered a slowly progressing form of type 1 (T1) diabetes (DM) or a distinct type of DM altogether. [...]
2022 - 10.3389/fendo.2022.916698
Frontiers in Endocrinology, Vol. 13 (october 2022) , p. 916698
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7 p, 1.3 MB |
Increased Presentation of Diabetic Ketoacidosis and Changes in Age and Month of Type 1 Diabetes at Onset during the COVID-19 Pandemic in Spain
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Leiva-Gea, Isabel (Instituto de Investigación Biomédica de Málaga) ;
Antúnez Fernández, Cristina (Hospital Punta de Europa) ;
Cardona-Hernandez, Roque (Hospital Sant Joan de Déu (Manresa)) ;
Ferrer Lozano, Marta (Hospital Universitario Miguel Servet (Saragossa)) ;
Bahíllo-Curieses, Pilar (Hospital Clínico Universitario de Valladolid) ;
Arroyo-Díez, Javier (Hospital Universitario Materno Infantil de Badajoz) ;
Clemente León, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martín-Frías, Maria (Hospital Universitario Ramón y Cajal (Madrid)) ;
Conde Barreiro, Santiago (Centro de Salud de Barbastro) ;
Mingorance Delgado, Andrés (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Pérez Sánchez, Jacobo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Universitat Autònoma de Barcelona
To assess the impact of the COVID-19 pandemic and lockdown measures on the presenting characteristics (age at diagnosis, severity, monthly distribution) of newly diagnosed type 1 diabetes in Spanish children. [...]
2022 - 10.3390/jcm11154338
Journal of clinical medicine, Vol. 11 (july 2022)
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11 p, 1.1 MB |
First-trimester screening for pre-eclampsia and small for gestational age : A comparison of the gaussian and Fetal Medicine Foundation algorithms
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Serrano, Berta (Hospital Universitari Vall d'Hebron) ;
Bonacina, Erika (Hospital Universitari Vall d'Hebron) ;
Rodó, Carlota (Hospital Universitari Vall d'Hebron) ;
Garcia-Manau, Pablo (Hospital Universitari Vall d'Hebron) ;
Sanchez-Duran, María Ángeles (Hospital Universitari Vall d'Hebron) ;
Pancorbo, María (Hospital Universitari Vall d'Hebron) ;
Forcada, Cristina (Hospital Universitari Vall d'Hebron) ;
Murcia-Oliveras, María Teresa (Hospital Universitari Vall d'Hebron) ;
Perestelo, Ana (Hospital Universitari Vall d'Hebron) ;
Armengol-Alsina, Mireia (Hospital Universitari Vall d'Hebron) ;
Mendoza, Manel (Hospital Universitari Vall d'Hebron) ;
Carreras Moratonas, Elena (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
Pre-eclampsia (PE) and small for gestational age (SGA) can be predicted from the first trimester. The most widely used algorithm worldwide is the Fetal Medicine Foundation (FMF) algorithm. The recently described Gaussian algorithm has reported excellent results although it is unlikely to be externally validated. [...]
2022 - 10.1002/ijgo.14306
International Journal of Gynaecology and Obstetrics, Vol. 160 (july 2022) , p. 150-160
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28 p, 1.9 MB |
The clinical and neuropathological features of sporadic (Late-onset) and genetic forms of alzheimer's disease
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Rujeedawa, T. (Cambridge Intellectual & Developmental Disabilities Research Group. Department of Psychiatry. University of Cambridge) ;
Félez, E.C. (Cambridge Intellectual & Developmental Disabilities Research Group. Department of Psychiatry. University of Cambridge) ;
Clare, I.C.H. (Cambridgeshire and Peterborough Foundation NHS Trust) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Strydom, A. (South London and the Maudsley NHS Foundation Trust. The LonDowns Consortium) ;
Rebillat, A.S. (Geriatrics. Institut Jérôme Lejeune) ;
Coppus, Antonia (Department of Primary and Community Care (149 ELG). Radboud University Nijmegen Medical Center) ;
Levin, J. (Munich Cluster for Systems Neurology (SyNergy)) ;
Zaman, S.H. (Cambridgeshire and Peterborough Foundation NHS Trust) ;
Universitat Autònoma de Barcelona
The purpose of this review is to compare and highlight the clinical and pathological aspects of genetic versus acquired Alzheimer's disease: Down syndrome-associated Alzheimer's disease in (DSAD) and Autosomal Dominant Alzheimer's disease (ADAD) are compared with the late-onset form of the disease (LOAD). [...]
2021 - 10.3390/jcm10194582
Journal of clinical medicine, Vol. 10 Núm. 19 (October 2021) , p. 4582
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10.
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12 p, 2.7 MB |
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
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Jacobs, M.B. (Pediatrics. Epidemiology. and Biostatistics. George Washington University) ;
James, Meredith K (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Lowes, Linda P (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Alfano, Lindsay N (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Eagle, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Muni Lofra, R. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Moore, U. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Feng, J. (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ;
Rufibach, L.E. (The Jain Foundation) ;
Rose, K. (The Children's Hospital at Westmead. The University of Sydney) ;
Duong, T. (Lucile Salter Packard Children's Hospital at Stanford) ;
Bello, Luca (Department of Neuroscience. University of Padova) ;
Pedrosa-Hernández, Irene (Institut d'Investigació Biomèdica Sant Pau) ;
Holsten, Scott (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Sakamoto, C. (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ;
Canal, Aurélie (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Sanchez-Aguilera Práxedes, N. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Thiele, S. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians University of Munich) ;
Siener, C. (Department of Neurology Washington University School of Medicine) ;
Vandevelde, B. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ;
DeWolf, Brittney (Cooperative International Neuromuscular Research Group (CINRG). Children's National Health System) ;
Maron, E. (ELAN-PHYSIO. Praxis für Physiotherapie Maron) ;
Guglieri, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Hogrel, J.Y. (Institut de Myologie (París, França)) ;
Blamire, Andrew (Magnetic Resonance Centre. Institute for Cellular Medicine. Newcastle University) ;
Carlier, Pierre G (AIM & CEA NMR Laboratory. Institute of Myology. Pitié-Salpêtrière University Hospital) ;
Spuler, S. (Charite Muscle Research Unit. Experimental and Clinical Research Center. a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ;
Day, John W (Department of Neurology and Neurological Sciences. Stanford University School of Medicine) ;
Jones, K.J. (The Children's Hospital at Westmead. The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, E. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ;
Pestronk, Alan (Washington University School of Medicine) ;
Walter, Maggie C (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians University of Munich) ;
Paradas, C. (Instituto de Biomedicina de Sevilla) ;
Stojkovic, T. (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ;
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Pegoraro, Elena (University of Padova) ;
Mendell, J. R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Mayhew, A.G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway)
Objective: Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. [...]
2021 - 10.1002/ana.26044
Annals of neurology, Vol. 89 Núm. 5 (may 2021) , p. 967-978
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