Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes
Ehrhart, Friederike, Coort, Susan L M, Cirillo, Elisa, Smeets, Eric, Evelo, Chris T, Curfs, Leopold M G
Published in Orphanet journal of rare diseases (25.11.2016)
Published in Orphanet journal of rare diseases (25.11.2016)
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Journal Article
A novel insight into neurological disorders through HDAC6 protein–protein interactions
Bahram Sangani, Nasim, Koetsier, Jarno, Mélius, Jonathan, Kutmon, Martina, Ehrhart, Friederike, Evelo, Chris T., Curfs, Leopold M. G., Reutelingsperger, Chris P., Eijssen, Lars M. T.
Published in Scientific reports (25.06.2024)
Published in Scientific reports (25.06.2024)
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Journal Article
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey
Kaufmann, Walter E, Percy, Alan K, Neul, Jeffrey L, Downs, Jenny, Leonard, Helen, Nues, Paige, Sharma, Girish D, Bartolotta, Theresa E, Townend, Gillian S, Curfs, Leopold M. G, Mariotti, Orietta, Buda, Claude, O'Leary, Heather M, Oberman, Lindsay M, Vogel-Farley, Vanessa, Barnes, Katherine V, Missling, Christopher U
Published in Orphanet journal of rare diseases (13.08.2024)
Published in Orphanet journal of rare diseases (13.08.2024)
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Journal Article
A resource to explore the discovery of rare diseases and their causative genes
Ehrhart, Friederike, Willighagen, Egon L, Kutmon, Martina, van Hoften, Max, Curfs, Leopold M G, Evelo, Chris T
Published in Scientific data (04.05.2021)
Published in Scientific data (04.05.2021)
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Journal Article
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration
Ehrhart, Friederike, Jacobsen, Annika, Rigau, Maria, Bosio, Mattia, Kaliyaperumal, Rajaram, Laros, Jeroen F J, Willighagen, Egon L, Valencia, Alfonso, Roos, Marco, Capella-Gutierrez, Salvador, Curfs, Leopold M G, Evelo, Chris T
Published in Scientific data (15.01.2021)
Published in Scientific data (15.01.2021)
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Journal Article
Triple X syndrome: a review of the literature
OTTER, Maarten, SCHRANDER-STUMPEL, Constance T. R. M, CURFS, Leopold M. G
Published in European journal of human genetics : EJHG (01.03.2010)
Published in European journal of human genetics : EJHG (01.03.2010)
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Journal Article
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion
Correa-da-Silva, Felipe, Carter, Jenny, Wang, Xin-Yuan, Sun, Rui, Pathak, Ekta, Kuhn, José Manuel Monroy, Schriever, Sonja C., Maya-Monteiro, Clarissa M., Jiao, Han, Kalsbeek, Martin J., Moraes-Vieira, Pedro M. M., Gille, Johan J. P., Sinnema, Margje, Stumpel, Constance T. R. M., Curfs, Leopold M. G., Stenvers, Dirk Jan, Pfluger, Paul T., Lutter, Dominik, Pereira, Alberto M., Kalsbeek, Andries, Fliers, Eric, Swaab, Dick F., Wilkinson, Lawrence, Gao, Yuanqing, Yi, Chun-Xia
Published in Acta neuropathologica (01.06.2024)
Published in Acta neuropathologica (01.06.2024)
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Journal Article
Current developments in the genetics of Rett and Rett-like syndrome
Ehrhart, Friederike, Sangani, Nasim B, Curfs, Leopold M G
Published in Current opinion in psychiatry (01.03.2018)
Published in Current opinion in psychiatry (01.03.2018)
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Journal Article
Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta‐analysis
BRAAM, WIEBE, SMITS, MARCEL G, DIDDEN, ROBERT, KORZILIUS, HUBERT, GEIJLSWIJK, INGEBORG M VAN, CURFS, LEOPOLD M G
Published in Developmental medicine and child neurology (01.05.2009)
Published in Developmental medicine and child neurology (01.05.2009)
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Journal Article
Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice
Halbach, Nicky S.J., Smeets, Eric E.J., van den Braak, Noortje, van Roozendaal, Kees E.P., Blok, Rien M.J., Schrander-Stumpel, Constance T.R.M., Frijns, Jean-Pierre, Maaskant, Marian A., Curfs, Leopold M.G.
Published in American journal of medical genetics. Part A (01.02.2012)
Published in American journal of medical genetics. Part A (01.02.2012)
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Journal Article
Development of consensus-based guidelines for managing communication of individuals with Rett syndrome
Townend, Gillian S., Bartolotta, Theresa E., Urbanowicz, Anna, Wandin, Helena, Curfs, Leopold M.G.
Published in Augmentative and alternative communication (02.04.2020)
Published in Augmentative and alternative communication (02.04.2020)
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Journal Article
Exploring the Development of Existing Sex Education Programmes for People with Intellectual Disabilities: An Intervention Mapping Approach
Schaafsma, Dilana, Stoffelen, Joke M. T., Kok, Gerjo, Curfs, Leopold M. G.
Published in Journal of applied research in intellectual disabilities (01.03.2013)
Published in Journal of applied research in intellectual disabilities (01.03.2013)
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Journal Article
Physical health problems in adults with Prader-Willi syndrome
Sinnema, Margje, Maaskant, Marian A., van Schrojenstein Lantman-de Valk, Henny M.J., Caroline van Nieuwpoort, I., Drent, Madeleine L., Curfs, Leopold M.G., Schrander-Stumpel, Constance T.R.M.
Published in American journal of medical genetics. Part A (01.09.2011)
Published in American journal of medical genetics. Part A (01.09.2011)
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Journal Article
Psychiatric illness in a cohort of adults with Prader-Willi syndrome
Sinnema, Margje, Boer, Harm, Collin, Philippe, Maaskant, Marian A., van Roozendaal, Kees E.P., Schrander-Stumpel, Constance T.R.M., Curfs, Leopold M.G.
Published in Research in developmental disabilities (01.09.2011)
Published in Research in developmental disabilities (01.09.2011)
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