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11 p, 708.4 KB |
DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patients
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Moreau, Manon (Université Paris Cité) ;
Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ;
Altuna-Azkargorta, Miren (Institut d'Investigació Biomèdica Sant Pau) ;
Dalzon, Lorraine (Université Paris Cité) ;
Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Vilaire, Marie (Institut Médical Jérôme Lejeune) ;
Durand, Sophie (Institut Médical Jérôme Lejeune) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Rebillat, Anne-Sophie (Institut Médical Jérôme Lejeune) ;
Janel, Nathalie (Université Paris Cité) ;
Universitat Autònoma de Barcelona
Down syndrome (DS) is a complex genetic condition due to an additional copy of human chromosome 21, which results in the deregulation of many genes. In addition to the intellectual disability associated with DS, adults with DS also have an ultrahigh risk of developing early onset Alzheimer's disease dementia. [...]
2022 -  10.3390/biomedicines10061380
Biomedicines, Vol. 10 (june 2022)
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2.
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23 p, 1.1 MB |
The Behavioral and Psychological Symptoms of Dementia in down Syndrome Scale (BPSD-DS II) : Optimization and Further Validation
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Dekker, Alain D. (Department of Practice-oriented Scientific Research (PWO). Alliade Care Group) ;
Ulgiati, Aurora M. (Department of Practice-oriented Scientific Research (PWO). Alliade Care Group) ;
Groen, Henk (Department of Epidemiology. University of Groningen. University Medical Center Groningen) ;
Boxelaar, Vicent A. (Center for Information Technology. University of Groningen) ;
Sacco, Silvia (Institut Jérôme Lejeune) ;
Falquero, Ségolène (Institut Jérôme Lejeune) ;
Carfi, Angelo (Policlinico Universitario Agostino Gemelli IRCCS (Roma, Itàlia)) ;
Di Paola, Antonella (Department of Geriatrics. Fondazione Policlinico Universitario Gemelli Irccs) ;
Benejam, Bessy (Barcelona Down Medical Center. Fundació Catalana Síndrome de Down) ;
Valldeneu, Silvia (Institut d'Investigació Biomèdica Sant Pau) ;
Fopma, Roelie (Department of Practice-oriented Scientific Research (PWO). Alliade Care Group) ;
Oosterik, Marjo (Aveleijn) ;
Hermelink, Marloes (De Twentse Zorgcentra) ;
Beugelsdijk, Gonny (Ipse de Bruggen) ;
Schippers, Mieke (Ipse de Bruggen) ;
Henstra, Hepie (Nieuw Woelwijck) ;
Scholten-Kuiper, Martine (Philadelphia Zorg) ;
Willink-Vos, Judith (Severinus) ;
De Ruiter, Lisa (Sherpa) ;
Willems, Liesbeth (Sprank) ;
Loonstra-De Jong, Anneke (Vanboeijen) ;
Coppus, Antonia (Dichterbij) ;
Tollenaere, Marleen (Department of Neurology and Memory Clinic. Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Onder, Graziano (Department of Cardiovascular. Endocrine-metabolic Diseases and Aging. Istituto Superiore di Sanitá) ;
Rebillat, Anne-Sophie (Institut Jérôme Lejeune) ;
Van Dam, Debby (Laboratory of Neurochemistry and Behavior. Department of Biomedical Sciences and Institute Born-Bunge. University of Antwerp) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica))
Background: People with Down syndrome (DS) are at high risk to develop Alzheimer's disease dementia (AD). Behavioral and psychological symptoms of dementia (BPSD) are common and may also serve as early signals for dementia. [...]
2021 - 10.3233/JAD-201427
Journal of Alzheimer's disease, Vol. 81 Núm. 4 (2021) , p. 1505-1527
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13 p, 1.5 MB |
Medical vulnerability of individuals with Down syndrome to severe COVID-19-data from the Trisomy 21 Research Society and the UK ISARIC4C survey
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Hüls, Anke (Department of Epidemiology and Gangarosa Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA) ;
Costa, Alberto C. S. (Departments of Pediatrics and of Psychiatry, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA) ;
Dierssen, Mara (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Baksh, R. Asaad (The London Down Syndrome (LonDownS) Consortium, London, United Kingdom) ;
Bargagna, Stefania (Fondazione Stella Maris IRCCS, Pisa, Italy) ;
Baumer, Nicole (Harvard Medical School) ;
Brandão, Ana Claudia (Hospital Israelita Albert Einstein (Sao Paolo, Brasil)) ;
Carfi, Angelo (Policlinico Universitario Agostino Gemelli IRCCS (Roma, Itàlia)) ;
Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ;
Chicoine, Brian (Advocate Medical Group Adult Down Syndrome Center, Park Ridge, IL, USA) ;
Ghosh, Sujay (Cytogenetics and Genomics Reserach Unit. Department of Zoology, University of Calcutta.Kolkata. West Bengal, India) ;
Lakhanpaul, Monica (Whttington NHS Trust, London, United Kingdom; Down Syndrome Medical Interest Group, London, United Kingdom) ;
Manso, Coral (CM: DOWN ESPAÑA, Madrid, Spain) ;
Mayer, Miguel-Angel (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Ortega, Maria del Carmen (Hospital Universitario 12 de Octubre (Madrid)) ;
de Asua, Diego Real (Instituto de Investigación Hospital Universitario de la Princesa) ;
Rebillat, Anne-Sophie (Institut Jérôme Lejeune, Paris, France) ;
Russell, Lauren Ashley (Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA) ;
Sgandurra, Giuseppina (Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy) ;
Valentini, Diletta (Bambino Gesù Children's Hospital) ;
Sherman, Stephanie L. (Department of Human Genetics, School of Medicine, Emory University, Atlanta, Georgia, USA) ;
Strydom, Andre (South London and the Maudsley NHS Foundation Trust) ;
Universitat Autònoma de Barcelona
Health conditions, immune dysfunction, and premature aging associated with trisomy 21 (Down syndrome, DS) may impact the clinical course of COVID-19. The T21RS COVID-19 Initiative launched an international survey for clinicians or caregivers on patients with COVID-19 and DS. [...]
2021 - 10.1016/j.eclinm.2021.100769
EClinicalMedicine, february 2021
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4.
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11 p, 1.2 MB |
Alzheimer's disease in Down syndrome : An overlooked population for prevention trials
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Strydom, André (South London and Maudsley NHS Foundation Trust) ;
Coppus, Antonia (Department of Primary and Community Care, Radboud University Medical Center, Nijmegen) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Danek, Adrian (Ludwig-Maximilians-Universität München) ;
Fortea, Juan (Fundació Catalana Síndrome de Down) ;
Hardy, John (Reta Lila Weston Institute, Institute of Neurology, University College London) ;
Levin, Johannes (German Center for Neurodegenerative Diseases (DZNE) site Munich) ;
Nuebling, Georg (Ludwig-Maximilians-Universität München) ;
Rebillat, Anne-Sophie (Institut Jérôme Lejeune) ;
Ritchie, Craig (Centre for Clinical Brain Sciences. University of Edinburgh) ;
van Duijn, Cornelia (Department of Epidemiology, Erasmus Medical Centre, Rotterdam) ;
Zaman, Shahid (Cambridge University Hospitals NHS Foundation Trust (Regne Unit)) ;
Zetterberg, Henrik (Sahlgrenska University Hospital (Suècia)) ;
Universitat Autònoma de Barcelona
The discovery that adults with Down syndrome (DS) have neuropathological features identical to individuals with sporadic Alzheimer's disease (AD) played a key role in the identification of the amyloid precursor protein gene on chromosome 21 and resulted in the amyloid cascade hypothesis. [...]
2018 - 10.1016/j.trci.2018.10.006
Alzheimer's & dementia, Vol. 4 (december 2018) , p. 703-713
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23 p, 1.3 MB |
The behavioral and psychological symptoms of dementia in Down syndrome (BPSD-DS) scale : comprehensive assessment of psychopathology in Down syndrome
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Dekker, Alain D. (Universitair Medisch Centrum Groningen) ;
Sacco, Silvia (Institut Jérôme Lejeune) ;
Carfi, Angelo (Universitá Cattolica del Sacro Cuore) ;
Benejam, Bessy (Fundació Catalana Síndrome de Down) ;
Vermeiren, Yannick (Universitair Medisch Centrum Groningen) ;
Beugelsdijk, Gonny (Ipse de Bruggen) ;
Schippers, Mieke (Ipse de Bruggen) ;
Hassefras, Lyanne (Ipse de Bruggen) ;
Eleveld, José (Cosis (Groningen)) ;
Grefelman, Sharina (Cosis (Groningen)) ;
Fopma, Roelie (Talant (Heerenveen)) ;
Bomer-Veenboer, Monique (Pameijer (Rotterdam)) ;
Botí, M (Fundació Catalana Síndrome de Down) ;
Oosterling, G. Danielle E. (Aveleijn (Borne)) ;
Scholten, Esther (Elver (Nieuw-Wehl)) ;
Tollenaere, Marleen (Institute Born-Bunge) ;
Checkley, Laura (University College London. Division of Psychiatry) ;
Strydom, André (University College London. Division of Psychiatry) ;
Van Goethem, Gert (Het GielsBos (Gierle)) ;
Onder, Graziano (Universitá Cattolica del Sacro Cuore) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
zu Eulenburg, Christine (Universitair Medisch Centrum Groningen) ;
Coppus, Antonia (Dichterbij (Gennep)) ;
Rebillat, Anne-Sophie (Institut Jérôme Lejeune) ;
Fortea, Juan (Fundació Catalana Síndrome de Down) ;
De Deyn, Peter Paul (Universitair Medisch Centrum Groningen) ;
Universitat Autònoma de Barcelona
People with Down syndrome (DS) are prone to develop Alzheimer's disease (AD). Behavioral and psychological symptoms of dementia (BPSD) are core features, but have not been comprehensively evaluated in DS. [...]
2018 - 10.3233/JAD-170920
Journal of Alzheimer's disease, Vol. 63, issue 2 (2018) , p. 797-819
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