Agnies M Van Eeghen
Overview
Explore the profile of Agnies M Van Eeghen including associated specialties, affiliations and a list of published articles.
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41
Citations
389
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Recent Articles
1.
Klein Haneveld M, Vyshka K, Gaasterland C, Grybek T, Swieczkowska K, Van Staa A, et al.
J Intellect Disabil Res
. 2025 Mar;
PMID: 40083267
Background: For young people with rare conditions associated with intellectual disability, the transfer from paediatric to adult healthcare providers is often complicated. European Reference Network ERN-ITHACA (Intellectual disability, TeleHealth, Autism...
2.
von Scheibler E, Swillen A, Repetto G, Reyes N, Lang A, Marras C, et al.
Mov Disord Clin Pract
. 2025 Feb;
PMID: 39918054
Background: 22q11.2 deletion syndrome (22q11.2DS) has been associated with increased risk of early-onset Parkinson's disease (PD). Objective: To determine the prevalence and predictors of PD in a large international 22q11.2DS...
3.
Van der Sluijs P, Safai Pour K, Berends C, Kruizinga M, Muller A, Van Eeghen A, et al.
J Med Genet
. 2024 Dec;
62(3):210-218.
PMID: 39740803
Background: Clinical trials for rare disorders have unique challenges due to low prevalence, patient phenotype variability and high expectations. These challenges are highlighted by our study on clonazepam in patients,...
4.
Jaspers Faijer-Westerink H, von Scheibler E, van Rossum E, van Haelst M, Vingerhoets C, van Amelsvoort T, et al.
Int J Obes (Lond)
. 2024 Nov;
PMID: 39616274
Objective: Copy number variations (CNVs) may contribute to medical conditions. However, research on the impact of individual CNVs on endocrine disease is limited. This study aimed to provide new data...
5.
van Silfhout N, van Muilekom M, van Karnebeek C, Haverman L, Van Eeghen A
Orphanet J Rare Dis
. 2024 Sep;
19(1):354.
PMID: 39334201
Introduction: Rare genetic neurodevelopmental disorders and intellectual disability (ID), collectively called genetic ID (GID), can profoundly impact daily functioning and overall well-being of affected individuals. To improve our understanding of...
6.
Muller A, Boot E, Notermans S, Schuengel C, Henneman L, Cornel M, et al.
Orphanet J Rare Dis
. 2024 Sep;
19(1):346.
PMID: 39285396
Background: Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care. Implications of ID on health are often complex and...
7.
Boot E, Van Eeghen A, Bloem B, van de Warrenburg B, Cuypers M
Parkinsonism Relat Disord
. 2024 Sep;
128:107079.
PMID: 39276719
No abstract available.
8.
Kwetsie H, van Schaijk M, van der Lee S, Maes-Festen D, Ten Hoopen L, van Haelst M, et al.
Neurology
. 2024 May;
102(11):e209413.
PMID: 38759134
Background And Objectives: Knowledge of young-onset Alzheimer disease in adults with Down syndrome has greatly improved clinical care. However, little is known about dementia in rare genetic neurodevelopmental disorders (RGNDs)....
9.
Muller A, van Silfhout N, den Hollander B, Kampman D, Bakkum L, Brands M, et al.
Ther Adv Rare Dis
. 2024 Apr;
5:26330040241245721.
PMID: 38681798
Background: Individuals with genetic neurodevelopmental disorders (GNDs) or intellectual disability (ID) are often affected by complex neuropsychiatric comorbidities. Targeted treatments are increasingly available, but due to the heterogeneity of these...
10.
Vos N, Kleinendorst L, van der Laan L, van Uhm J, Jansen P, Van Eeghen A, et al.
Eur J Hum Genet
. 2024 Apr;
32(11):1387-1401.
PMID: 38605127
The 16p11.2 deletion syndrome is a clinically heterogeneous disorder, characterized by developmental delay, intellectual disability, hyperphagia, obesity, macrocephaly and psychiatric problems. Cases with 16p11.2 duplication syndrome have similar neurodevelopmental problems,...