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A

Agnies M. van Eeghen

university hospital leuven
H指数:24
被引数:2,325

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荣誉奖项

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Closing the Gap to Interventions for Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): Protocol fora Longitudinal Study of TAND Severity, Predictors, and Caregiver Well-Being (TANDem-2)

缩小结节性硬化症相关神经精神障碍（TAND）干预差距：TAND严重程度、预测因素和照护者福祉的纵向研究方案（TANDem-2）

JMIR Research Protocols
IF1.5
2026-05-080
PRE
de Vries, Petrus J.; Chambers, Nola; Campbell, Erin; Gutierrez-Lafrentz, Lucas; Heunis, Tosca-Marie; Schlebusch, Liezl; d'Augeres, Guillaume Beaure; Bissell, Stacey; Byars, Anna; Capal, Jamie; Cardozo, Lais; Cukier, Sebastian; Davis, Peter; Epstein, Naomi Beth; Fladrowski, Carla; Flinn, Jennifer; Gipson, Tanjala; Goy, Sarah Louise; Kingswood, John Christopher; Krueger, Darcy; Little, Francesca; Lubbe, Sugnet; Mitchell, Rebecca; Rozenberg, Micaela; Sahin, Mustafa; Silva, Mitchell; Smith, Catherine; Srivastava, Shoba; Takei, Megumi; van Eeghen, Agnies; Vasseghi, Mary; Wagenaar, Jan-Paul; Waltereit, Robert; De Waele, Liesbeth; Jansen, Anna C.
Correction: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome

更正：FMRP的KH0结构域中的一个错义变异在一名具有脆性X综合征临床特征的患者中下调了该蛋白。

European Journal of Human Genetics
IF4.6
2026-03-310
PRE
Claudio Peter D’Incal; Bram Dierckx; Claudia Vingerhoets; Mieke van Haelst; Dale John Annear; Anke Van Dijck; Lina Bastini; Anthony Konings; Ellen Elinck; Ligia Mateiu; Agnies M. van Eeghen; R. Frank Kooy
Serum NfL, GFAP, and p-tau217 in adults with drug-resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury

血清NfL、GFAP和p-tau217在药物难治性癫痫及智力障碍成人中的研究：持续神经损伤的标志

Epilepsia
IF6.6
2026-03-300
OAAI
Hadassa Kwetsie; Inge M. W. Verberk; Jans S. van Ool; Anneke J. J. Rampen; Rebecca Z. Rousset; Nicole I. Wolf; Dederieke A. M. Maes-Festen; Clara D. M. van Karnebeek; Charlotte E. Teunissen; Erik Boot; Agnies M. van Eeghen
Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials

L-丝氨酸在具有GRIN2B功能丧失性变异的儿童中的潜在益处：随机n-of-1试验

Molecular Genetics and Metabolism
IF3.5
2025-10-300
PRE
Bibiche den Hollander; Marieke Rothuizen-Lindenschot; Hoang Lan Le; Jennifer R. Ramautar; Annelieke R. Müller; Lisa Geertjens; Frédéric M. Vaz; Agnies M. van Eeghen; Martina C. Cornel; Bart A.W. Jacobs; Hilgo Bruining; Peter M. van de Ven; Marion M. Brands; Clara D. van Karnebeek
A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome

FMRP的KH0结构域中的一个错义变异导致该蛋白在具有脆性X综合征临床特征的患者中表达下调。

European Journal of Human Genetics
IF4.6
2025-10-210
PRE
Claudio Peter D’Incal; Bram Dierickx; Claudia Vingerhoets; Mieke van Haelst; Dale John Annear; Anke Van Dijck; Lina Bastini; Anthony Konings; Ellen Elinck; Ligia Mateiu; Agnies M. van Eeghen; R. Frank Kooy
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

我们在乎吗？多学科智力残疾护理中遗传诊断的报告: 回顾性图表回顾

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-09-160
OAAI
Muller, Annelieke R.; Boot, Erik; Notermans, Stijn B.; Schuengel, Carlo; Henneman, Lidewij; Cornel, Martina C.; van Haelst, Mieke M.; Alders, Marielle; van Karnebeek, Clara D. M.; Bijl, Bas; Wijburg, Frits A.; van Eeghen, Agnies M.
Dementia in Rare Genetic Neurodevelopmental Disorders

罕见的遗传性神经发育障碍中的痴呆

NEUROLOGY
IF8.5
2024-06-111
OAAI
Kwetsie, Hadassa; van Schaijk, Malu; van der Lee, Sven; Maes-Festen, Dederieke; Ten Hoopen, Leontine W.; van Haelst, Mieke M.; Coesmans, Michael; van den Berg, Esther; De Wit, Marie Claire Y.; Pijnenburg, Yolande; Aronica, Eleonora; Boot, Erik; Van Eeghen, Agnies M.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
BMC PSYCHIATRY
IF3.6
2024-01-044
OAAI
Mueller, A. R.; den Hollander, B.; van de Ven, P. M.; Roes, K. C. B.; Geertjens, L.; Bruining, H.; van Karnebeek, C. D. M.; Jansen, F. E.; de Wit, M. C. Y.; ten Hoopen, L. W.; Rietman, A. B.; Dierckx, B.; Wijburg, F. A.; Boot, E.; Brands, M. M. G.; van Eeghen, A. M.

研究方向

暂未获取到该数据
E
Erik Boot
H 指数:32论文数:132被引数:3,851
M
Martina C. Cornel
H 指数:55论文数:490被引数:1.1万
A
Annelieke R. Müller
H 指数:8论文数:24被引数:176
J
Jamie K. Capal
H 指数:19论文数:55被引数:1,241
P
Petrus J. de Vries
H 指数:55论文数:223被引数:1.3万
E
Elizabeth A. Thiele
H 指数:67论文数:270被引数:2.5万
A
Anna Jansen
H 指数:55论文数:348被引数:1.3万
S
Stacey Bissell
H 指数:11论文数:25被引数:349
S
Sebastián Cukier
H 指数:13论文数:49被引数:849
J
Jennifer Flinn
H 指数:6论文数:15被引数:223