Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Agnies M van Eeghen"'
Autor:
Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, Frédéric M. Vaz, Marion M. Brands, Hoang Lan Le, Agnies M. van Eeghen, Peter M. van de Ven, Martina C. Cornel, Bart A.W. Jacobs, Hilgo Bruining, Clara D. van Karnebeek
Publikováno v:
Contemporary Clinical Trials Communications, Vol 38, Iss , Pp 101264- (2024)
Externí odkaz:
https://doaj.org/article/c600e47e64454d01835063d2a4f79093
Autor:
Petrus J. de Vries, Tosca-Marie Heunis, Stephanie Vanclooster, Nola Chambers, Stacey Bissell, Anna W. Byars, Jennifer Flinn, Tanjala T. Gipson, Agnies M. van Eeghen, Robert Waltereit, Jamie K. Capal, Sebastián Cukier, Peter E. Davis, Catherine Smith, J. Chris Kingswood, Eva Schoeters, Shoba Srivastava, Megumi Takei, Sugnet Gardner-Lubbe, Aubrey J. Kumm, Darcy A. Krueger, Mustafa Sahin, Liesbeth De Waele, Anna C. Jansen
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-20 (2023)
Abstract Background Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with
Externí odkaz:
https://doaj.org/article/0f33b55db38e479d9f389a096963c78f
Autor:
Annelieke R. Müller, Michiel A. J. Luijten, Lotte Haverman, Wendela L. de Ranitz-Greven, Peter Janssens, André B. Rietman, Leontine W. ten Hoopen, Laura C. G. de Graaff, Marie-Claire de Wit, Anna C. Jansen, Tanjala Gipson, Jamie K. Capal, Petrus J. de Vries, Agnies M. van Eeghen
Publikováno v:
BMC Medicine, Vol 21, Iss 1, Pp 1-15 (2023)
Abstract Background Tuberous sclerosis complex (TSC) is a rare and complex genetic disorder, associated with tumor growth in various organ systems, epilepsy, and a range of neuropsychiatric manifestations including intellectual disability. With impro
Externí odkaz:
https://doaj.org/article/3108e33f8bbe45ac9d13900319306ed9
Autor:
Emma N.M.M. von Scheibler, Abhishek Appaji, Tos T.J.M. Berendschot, Noël J.C. Bauer, Naren P. Rao, Agnies M. van Eeghen, Thérèse A.M.J. van Amelsvoort, Erik Boot
Publikováno v:
Biomarkers in Neuropsychiatry, Vol 9, Iss , Pp 100081- (2023)
Purpose: The 22q11.2 deletion syndrome (22q11.2DS) has an estimated prevalence of 1:2148 live births and is associated with an increased risk of schizophrenia, cognitive decline and early-onset Parkinson’s disease. Because retinal and cerebral tiss
Externí odkaz:
https://doaj.org/article/94adc787e76743218f6492142ca80fe8
Autor:
Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, Frédéric M. Vaz, Marion M. Brands, Hoang Lan Le, Agnies M. van Eeghen, Peter M. van de Ven, Martina C. Cornel, Bart A.W. Jacobs, Hilgo Bruining, Clara D. van Karnebeek
Publikováno v:
Contemporary Clinical Trials Communications, Vol 36, Iss , Pp 101233- (2023)
Rationale: Loss-of-function (LoF) mutations in GRIN2B result in neurologic abnormalities due to N-methyl-D-aspartate receptor (NMDAR) dysfunction. Affected persons present with various symptoms, including intellectual developmental disability (IDD),
Externí odkaz:
https://doaj.org/article/adbda0d94cdd40879d421b91290d512c
Autor:
Annelieke R. Müller, Michiel A. J. Luijten, Lotte Haverman, Wendela L. de Ranitz-Greven, Peter Janssens, André B. Rietman, Leontine W.ten Hoopen, Laura C. G. de Graaff, Marie-Claire de Wit, Anna C. Jansen, Tanjala Gipson, Jamie K. Capal, Petrus J. de Vries, Agnies M. van Eeghen
Publikováno v:
BMC Medicine, Vol 21, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/9fa5f01526794b97b7d76b4251b53f86
Autor:
Stephanie Vanclooster, Stacey Bissell, Agnies M. van Eeghen, Nola Chambers, Liesbeth De Waele, Anna W. Byars, Jamie K. Capal, Sebastián Cukier, Peter Davis, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, Tosca-Marie Heunis, Dena Hook, J. Christopher Kingswood, Darcy A. Krueger, Aubrey J. Kumm, Mustafa Sahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Robert Waltereit, Anna C. Jansen, Petrus J. de Vries
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-23 (2022)
Abstract Background Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND
Externí odkaz:
https://doaj.org/article/5465835e27fa45c8abe959798b7d6f7e
Autor:
Cathelijne C. Linders, Agnies M. van Eeghen, Janneke R. Zinkstok, Marie-José van den Boogaard, Erik Boot
Publikováno v:
Genes, Vol 14, Iss 8, p 1514 (2023)
Aim: Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathogenic variant in the RAI1 gene. SMS is associated with developmental delay, intellectual disability (ID), and major sleep and behav
Externí odkaz:
https://doaj.org/article/16c20fb65abc498a9a98cf7d7e94d908
Autor:
Tosca-Marie Heunis, Stacey Bissell, Anna W. Byars, Jamie K. Capal, Nola Chambers, Sebastián Cukier, Peter E. Davis, Liesbeth De Waele, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, J. Christopher Kingswood, Darcy A. Krueger, Aubrey J. Kumm, Mustafa Sahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Stephanie Vanclooster, Agnies M. van Eeghen, Robert Waltereit, Anna C. Jansen, Petrus J. de Vries
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
IntroductionTuberous Sclerosis Complex (TSC) is a multi-system genetic disorder with various TSC-Associated Neuropsychiatric Disorders (TAND) that significantly impact the mental health and wellbeing of individuals with TSC and their caregivers. TAND
Externí odkaz:
https://doaj.org/article/ad7165d64e9f4caaa2f571edb598a4ce
Autor:
Hilde A. G. Warmerdam, Elise A. Termeulen-Ferreira, Laura A. Tseng, Jessica Y. Lee, Agnies M. van Eeghen, Carlos R. Ferreira, Clara D. M. van Karnebeek
Publikováno v:
Frontiers in Neurology, Vol 10 (2020)
Background: Progressive intellectual and neurological deterioration (PIND) is a rare but severe childhood disorder characterized by loss of intellectual or developmental abilities, and requires quick diagnosis to ensure timely treatment to prevent po
Externí odkaz:
https://doaj.org/article/2a1cfd0458b74afe8e725d8e7ea8364e