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The behavioral and psychological symptoms of dementia in Down syndrome (BPSD-DS) scale : comprehensive assessment of psychopathology in Down syndrome

Autor: Dekker, Alain D., Sacco, Silvia, Carfi, Angelo, Benejam, Bessy, Vermeiren, Yannick, Beugelsdijk, Gonny, Schippers, Mieke, Hassefras, Lyanne, Eleveld, José, Grefelman, Sharina, Fopma, Roelie, Bomer-Veenboer, Monique, Botí, M. Ángeles, Oosterling, G. Danielle E., Scholten, Esther, Tollenaere, Marleen, Checkley, Laura, Strydom, André, Van Goethem, Gert, Onder, Graziano, Blesa, Rafael, zu Eulenburg, Christine, Coppus, Antonia, Rebillat, Anne-Sophie, Fortea, Juan, De Deyn, Peter Paul, Universitat Autònoma de Barcelona

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Journal of Alzheimer’s Disease, 63(2), 797-819. IOS Press
Journal of Alzheimer's Disease, 63(2), 797-820
Journal of Alzheimer's disease
Journal of Alzheimer's Disease, 63, 2, pp. 797-819
Journal of Alzheimer's Disease, 63, 797-819
Journal of Alzheimer's Disease
Journal of Alzheimer's Disease 63 (2018) 2
Dekker, A D, Sacco, S, Carfi, A, Benejam, B, Vermeiren, Y, Beugelsdijk, G, Schippers, M, Hassefras, L, Eleveld, J, Grefelman, S, Fopma, R, Bomer-veenboer, M, Boti, M, Oosterling, G D E, Scholten, E, Tollenaere, M, Checkley, L, Strydom, A, Van Goethem, G, Onder, G, Blesa, R, Zu Eulenburg, C, Coppus, A M W, Rebillat, A, Fortea, J & De Deyn, P P 2018, ' The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale : Comprehensive Assessment of Psychopathology in Down Syndrome ', Journal of Alzheimer's Disease, vol. 63, no. 2, pp. 797-819 . https://doi.org/10.3233/JAD-170920
JOURNAL OF ALZHEIMERS DISEASE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

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. In a European multidisciplinary study, the no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94fbc6edec1b13b845fbaa3b9d4a76fa
https://ddd.uab.cat/record/190793

Identification of intellectual disability genes in female patients with a skewed X-inactivation pattern

Autor: Fieremans, Nathalie, Van Esch, Hilde, Holvoet, Maureen, Van Goethem, Gert, Devriendt, Koenraad, Rosello, Monica, Mayo, Sonia, Martinez, Francisco, Jhangiani, Shalini, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Vermeesch, Joris R, Marynen, Peter, Froyen, Guy

Publikováno v: Human mutation

Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in many cases. Previously, X-linked ID (XLID) studies focused on males because of the hemizygous state of their X chromosome. Carrier females are generally un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::181157feb694cccfaab67686f7e757ff
https://hdl.handle.net/10067/1349350151162165141

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Autor: Van Goethem, Gert, Schwartz, Marianne, Lofgren, Ann, Dermaut, Bart, Van Broeckhoven, Christine, Vissing, John

Publikováno v: European Journal of Human Genetics. Jul2003, Vol. 11 Issue 7, p547. 3p.

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics

Autor: Rooms, Liesbeth, Reyniers, E., Wuyts, Wim, Storm, K., van Luijk, R., Scheers, S., Wauters, Jan, van den Ende, Jef, Biervliet, Martine, Eyskens, François, Van Goethem, Gert, Laridon, A., Ceulemans, Berten, Courtens, Winnie, Kooy, Frank

Publikováno v: Clinical genetics

Subtelomeric rearrangements are believed to be responsible for 5-7% of idiopathic mental retardation cases. Due to the relative complexity and high cost of the screening methods used till now, only preselected patient populations including mostly the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f636c55aabb92f1cc50d9b7453f9b52e
https://hdl.handle.net/20.500.14017/9d59ebd8-33da-436e-8df8-9a6200653a21