Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives

por Overwater, Iris E, Rietman, André B, van Eeghen, Agnies M, de Wit, Marie Claire Y
Publicado 2019

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

por Linders, Cathelijne C., van Eeghen, Agnies M., Zinkstok, Janneke R., van den Boogaard, Marie-José, Boot, Erik
Publicado 2023

Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome

por Boot, Erik, Linders, Cathelijne C., Tromp, Sterre H., van den Boogaard, Marie‐José, van Eeghen, Agnies M.
Publicado 2021

Post-traumatic stress in adults with 22q11.2 deletion syndrome

por von Scheibler, Emma N. M. M., van Amelsvoort, Thérèse A. M. J., Vingerhoets, Claudia, van Eeghen, Agnies M., Boot, Erik
Publicado 2022

Personalized medicine for rare neurogenetic disorders: can we make it happen?

por van Eeghen, Agnies M., Bruining, Hilgo, Wolf, Nicole I., Bergen, Arthur A., Houtkooper, Riekelt H., van Haelst, Mieke M., van Karnebeek, Clara D.
Publicado 2022

Worries and needs of adults and parents of adults with neurofibromatosis type 1

por Rietman, Andre B., van Helden, Hanneke, Both, Pauline H., Taal, Walter, Legerstee, Jeroen S., van Staa, AnneLoes, Moll, Henriette A., Oostenbrink, Rianne, van Eeghen, Agnies M.
Publicado 2018

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

por Warmerdam, Hilde A. G., Termeulen-Ferreira, Elise A., Tseng, Laura A., Lee, Jessica Y., van Eeghen, Agnies M., Ferreira, Carlos R., van Karnebeek, Clara D. M.
Publicado 2020

Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review

por von Scheibler, Emma N.M.M., van Eeghen, Agnies M., de Koning, Tom J., Kuijf, Mark L., Zinkstok, Janneke R., Müller, Annelieke R., van Amelsvoort, Thérèse A.M.J., Boot, Erik
Publicado 2022

Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1

por Müller, Annelieke R., Brands, Marion M.M.G., van de Ven, Peter M., Roes, Kit C.B., Cornel, Martina C., van Karnebeek, Clara D.M., Wijburg, Frits A., Daams, Joost G., Boot, Erik, van Eeghen, Agnies M.
Publicado 2021

Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study

por von Scheibler, Emma N. M. M., van der Valk Bouman, Emy S., Nuijts, Myrthe A., Bauer, Noël J. C., Berendschot, Tos T. J. M., Vermeltfoort, Pit, Bok, Levinus A., van Eeghen, Agnies M., Houben, Michiel L., van Amelsvoort, Thérèse A. M. J., Boot, Erik, van Egmond‐Ebbeling, Michelle B.
Publicado 2021

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

por Müller, Annelieke R., Luijten, Michiel A. J., Haverman, Lotte, de Ranitz-Greven, Wendela L., Janssens, Peter, Rietman, André B., ten Hoopen, Leontine W., de Graaff, Laura C. G., de Wit, Marie-Claire, Jansen, Anna C., Gipson, Tanjala, Capal, Jamie K., de Vries, Petrus J., van Eeghen, Agnies M.
Publicado 2023

Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

por Müller, Annelieke R., Luijten, Michiel A. J., Haverman, Lotte, de Ranitz-Greven, Wendela L., Janssens, Peter, Rietman, André B., Hoopen, Leontine W.ten, de Graaff, Laura C. G., de Wit, Marie-Claire, Jansen, Anna C., Gipson, Tanjala, Capal, Jamie K., de Vries, Petrus J., van Eeghen, Agnies M.
Publicado 2023

What Every Internist Should Know About Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five-Year Experience of Internal...

por Rosenberg, Anna G W, Pater, Minke R A, Davidse, Kirsten, Kattentidt-Mouravieva, Anja A, Kersseboom, Rogier, Bos-Roubos, Anja G, van Eeghen, Agnies, van der Meulen, Jiske J, Veen, José M C, van Aalst, Nina, Hoekstra, Franciska M E, Van der Lely, Aart J, de Graaff, Laura C G
Publicado 2021

What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘I...

por Rosenberg, Anna G. W., Pater, Minke R. A., Pellikaan, Karlijn, Davidse, Kirsten, Kattentidt-Mouravieva, Anja A., Kersseboom, Rogier, Bos-Roubos, Anja G., van Eeghen, Agnies, Veen, José M. C., van der Meulen, Jiske J., van Aalst-van Wieringen, Nina, Hoekstra, Franciska M. E., van der Lely, Aart J., de Graaff, Laura C. G.
Publicado 2021

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

por de Vries, Petrus J., Heunis, Tosca-Marie, Vanclooster, Stephanie, Chambers, Nola, Bissell, Stacey, Byars, Anna W., Flinn, Jennifer, Gipson, Tanjala T., van Eeghen, Agnies M., Waltereit, Robert, Capal, Jamie K., Cukier, Sebastián, Davis, Peter E., Smith, Catherine, Kingswood, J. Chris, Schoeters, Eva, Srivastava, Shoba, Takei, Megumi, Gardner-Lubbe, Sugnet, Kumm, Aubrey J., Krueger, Darcy A., Sahin, Mustafa, De Waele, Liesbeth, Jansen, Anna C.
Publicado 2023

The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review

por Vanclooster, Stephanie, Bissell, Stacey, van Eeghen, Agnies M., Chambers, Nola, De Waele, Liesbeth, Byars, Anna W., Capal, Jamie K., Cukier, Sebastián, Davis, Peter, Flinn, Jennifer, Gardner-Lubbe, Sugnet, Gipson, Tanjala, Heunis, Tosca-Marie, Hook, Dena, Kingswood, J. Christopher, Krueger, Darcy A., Kumm, Aubrey J., Sahin, Mustafa, Schoeters, Eva, Smith, Catherine, Srivastava, Shoba, Takei, Megumi, Waltereit, Robert, Jansen, Anna C., de Vries, Petrus J.
Publicado 2022

Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem)

por Heunis, Tosca-Marie, Bissell, Stacey, Byars, Anna W., Capal, Jamie K., Chambers, Nola, Cukier, Sebastián, Davis, Peter E., De Waele, Liesbeth, Flinn, Jennifer, Gardner-Lubbe, Sugnet, Gipson, Tanjala, Kingswood, J. Christopher, Krueger, Darcy A., Kumm, Aubrey J., Sahin, Mustafa, Schoeters, Eva, Smith, Catherine, Srivastava, Shoba, Takei, Megumi, Vanclooster, Stephanie, van Eeghen, Agnies M., Waltereit, Robert, Jansen, Anna C., de Vries, Petrus J.
Publicado 2022