Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Leopold M.G. Curfs"'
Autor:
Leopold M.G. Curfs, Chris T. Evelo, Friederike Ehrhart, Susan L. Coort, Eric Smeets, Elisa Cirillo, Nasim Bahram Sangani, Lars M. T. Eijssen
Publikováno v:
World Journal of Biological Psychiatry, 21(10), 712-725. Routledge/Taylor & Francis Group
Rett syndrome (RTT) is a rare disorder causing severe intellectual and physical disability. The cause is a mutation in the gene coding for the methyl-CpG binding protein 2 (MECP2), a multifunctional regulator protein. Purpose of the study was integra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24f90ac9768f9f1a3c93d3625587731
https://cris.maastrichtuniversity.nl/en/publications/2cdd6963-db98-4ebb-ac2b-a8296e8ae0fd
https://cris.maastrichtuniversity.nl/en/publications/2cdd6963-db98-4ebb-ac2b-a8296e8ae0fd
Publikováno v:
Research in Developmental Disabilities, 82, 79-89
Research in Developmental Disabilities, 82, pp. 79-89
Research in Developmental Disabilities, 82, 79-89. Elsevier Science
Research in Developmental Disabilities, 82, pp. 79-89
Research in Developmental Disabilities, 82, 79-89. Elsevier Science
Item does not contain fulltext Background: It is assumed that autism spectrum disorder (ASD) is caused by a combination of de novo inherited variation and common variation as well as environmental factors. It often co-occurs with intellectual disabil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2871165a9c8efb83681cca2934f3ca3
https://doi.org/10.1016/j.ridd.2018.02.017
https://doi.org/10.1016/j.ridd.2018.02.017
Autor:
Luise Poustka, Peter B. Marschik, Christa Einspieler, Sven Bölte, Gillian S. Townend, Katrin D. Bartl-Pokorny, Leopold M.G. Curfs, Jeff Sigafoos
Publikováno v:
Research in Developmental Disabilities, 43-44, 80-86. Elsevier Science
This study compared early markers of social reciprocity in children with typical Rett syndrome (RTT) and in those with the preserved speech variant (PSV) of RTT. Retrospective video analysis of 10 toddlers with typical RTT and five with PSV investiga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c0ad43911e417b3901edbb57b85aac1
https://doi.org/10.1016/j.ridd.2015.06.008
https://doi.org/10.1016/j.ridd.2015.06.008
Autor:
Justine Niemczyk, David Mowat, Catharina Wagner, Monika Equit, Stewart L. Einfeld, Alexander von Gontard, Leopold M.G. Curfs
Publikováno v:
Research in Developmental Disabilities, 62, 230-237. Elsevier Science
Background: Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other anomalies, e.g. seizures and/or Hirschsprung
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::895bc08fb425c9c177b08f670fcf64bc
https://pubmed.ncbi.nlm.nih.gov/28094084
https://pubmed.ncbi.nlm.nih.gov/28094084
Autor:
Marcel G. Smits, Chris T. Evelo, A.P.H.M. Maas, Friederike Ehrhart, Wiebe Braam, Leopold M.G. Curfs
Low melatonin levels are a frequent finding in autism spectrum disorder (ASD) patients. Melatonin is important for normal neurodevelopment and embryonic growth and highly effective in protecting DNA from oxidative damage. Melatonin deficiency, possib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0e09ab61d5e92741256373d10e3e3f2
Publikováno v:
Research in Developmental Disabilities, 33, 6, pp. 1773-1779
Research in Developmental Disabilities, 33(6), 1773-1779. Elsevier Science
Research in Developmental Disabilities, 33, 1773-1779
Research in Developmental Disabilities, 33(6), 1773-1779. Elsevier Science
Research in Developmental Disabilities, 33, 1773-1779
Contains fulltext : 102534.pdf (Publisher’s version ) (Closed access) The prevalence of sleep problems in individuals with intellectual disability (ID) seems to vary between genetic syndromes associated with ID. Different types of sleep disturbance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9c09a9c35905ce283275bf0299521f6
https://doi.org/10.1016/j.ridd.2012.04.017
https://doi.org/10.1016/j.ridd.2012.04.017
Autor:
W.J. Braam, A.P.H.M. Maas, Philippe Collin, Leopold M.G. Curfs, Robert Didden, Marcel G. Smits, Hubert Korzilius
Publikováno v:
Research in Developmental Disabilities, 32, 2467-2479
Research in Developmental Disabilities, 32(6), 2467-2479. Elsevier Science
Research in Developmental Disabilities, 32, 6, pp. 2467-2479
Research in Developmental Disabilities, 32(6), 2467-2479. Elsevier Science
Research in Developmental Disabilities, 32, 6, pp. 2467-2479
Contains fulltext : 95384.pdf (Publisher’s version ) (Closed access) We examined the psychometric properties of one part of the Sleep Questionnaire developed by Simonds and Parraga, 1982 J.F. Simonds and H. Parraga, Prevalence of sleep disorders an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2625d8f34310d6a9c9b40d603b53d8c
https://doi.org/10.1016/j.ridd.2011.07.013
https://doi.org/10.1016/j.ridd.2011.07.013
Autor:
Margje Sinnema, H Boer, Leopold M.G. Curfs, Marian A. Maaskant, Stewart L. Einfeld, Constance T.R.M. Schrander-Stumpel
Publikováno v:
Research in Developmental Disabilities, 32(2), 604-612. Elsevier Science
Prader–Willi syndrome (PWS) is characterized by temper tantrums, impulsivity, mood fluctuations, difficulty with change in routine, skinpicking, stubbornness and aggression. Many studies on behavior in PWS are limited by sample size, age range, a l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a3562b656bd2c61af581c4564f7d0d
Autor:
Kees E. P. van Roozendaal, Marian A. Maaskant, Philippe Collin, Leopold M.G. Curfs, Constance T.R.M. Schrander-Stumpel, H Boer, Margje Sinnema
Publikováno v:
Research in Developmental Disabilities, 32(5), 1729-1735. Elsevier Science
Previous studies have suggested an association between PWS and comorbid psychiatric illness. Data on prevalence rates of psychopathology is still scarce. This paper describes a large-scale, systematic study investigating the prevalence of psychiatric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c937867f34561802a06e549f69890179
https://cris.maastrichtuniversity.nl/en/publications/51b7e5a6-5a78-4edd-8468-3674434c0570
https://cris.maastrichtuniversity.nl/en/publications/51b7e5a6-5a78-4edd-8468-3674434c0570
Autor:
G.J.A. Ramakers, B.J.C. Hamel, K.R. Ridderinkhof, Hilde M. Huizenga, Leopold M.G. Curfs, M.W. van der Molen, M.W. Van der Molen, Mariëtte Huizinga
Publikováno v:
Research in Developmental Disabilities, 31, 2, pp. 426-39
Research in Developmental Disabilities, 31, 426-439. Elsevier B.V.
Research in Developmental Disabilities, 31, 426-39
Research in Developmental Disabilities, 31(2), 426-439. Elsevier
Research in Developmental Disabilities, 31(2), 426-439. Elsevier Inc.
Research in Developmental Disabilities, 31(2), 426-439. Elsevier Science
Van der Molen, M W J, Huizinga, M, Huizenga, H M, Ridderinkhof, K R, Hamel, B J C & Ramakers, G J A 2010, ' Profiling Fragile X Syndrome in Males: Strengths and weaknesses in cognitive abilities ', Research in Developmental Disabilities, vol. 31, no. 2, pp. 426-439 . https://doi.org/10.1016/j.ridd.2009.10.013
Research in Developmental Disabilities, 31, 426-439. Elsevier B.V.
Research in Developmental Disabilities, 31, 426-39
Research in Developmental Disabilities, 31(2), 426-439. Elsevier
Research in Developmental Disabilities, 31(2), 426-439. Elsevier Inc.
Research in Developmental Disabilities, 31(2), 426-439. Elsevier Science
Van der Molen, M W J, Huizinga, M, Huizenga, H M, Ridderinkhof, K R, Hamel, B J C & Ramakers, G J A 2010, ' Profiling Fragile X Syndrome in Males: Strengths and weaknesses in cognitive abilities ', Research in Developmental Disabilities, vol. 31, no. 2, pp. 426-439 . https://doi.org/10.1016/j.ridd.2009.10.013
The present study examined the cognitive profile in Fragile X Syndrome (FXS) males, and investigated whether cognitive profiles are similar for FXS males at different levels of intellectual functioning. Cognitive abilities in non-verbal, verbal, memo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c064d44a863ab83215dec218b4d60e0
https://doi.org/10.1016/j.ridd.2009.10.013
https://doi.org/10.1016/j.ridd.2009.10.013