Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

Autor: Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. vanKempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle deJong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp

Publikováno v: Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)

Abstract Objective The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation. Methods We collected data on patients with ANKRD11

Externí odkaz: https://doaj.org/article/aed334dc863943859f018af92b96be34

The predictive and prognostic value of weight loss and body composition prior to and during immune checkpoint inhibition in recurrent or metastatic head and neck cancer patients

Autor: Anna C. H. Willemsen, Nina De Moor, Jeroen Van Dessel, Laura W. J. Baijens, Michel Bila, Esther Hauben, Mari F. C. M. van denHout, Vincent Vander Poorten, Ann Hoeben, Paul M. Clement, Annemie M. W. J. Schols

Publikováno v: Cancer Medicine, Vol 12, Iss 7, Pp 7699-7712 (2023)

Abstract Background Response rates of immune checkpoint inhibitor (ICI) therapy for recurrent and/or metastatic head and neck squamous cell carcinoma (R/M HNSCC) are low. Patients and Methods This retrospective multicentre cohort study evaluates the

Externí odkaz: https://doaj.org/article/c2f65e99a68c49b3ae4f6cebf20ceb0f

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Autor: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

Publikováno v: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)

Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi

Externí odkaz: https://doaj.org/article/47a113198d5649e88315ddec99f2067f

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

Autor: Willemijn F. E. Kuper, Claudia vanAlfen, Linda vanEck, Stella A. deMan, Marjolein H. Willemsen, Koen L. I. vanGassen, Monique Losekoot, Peter M. vanHasselt

Publikováno v: JIMD Reports, Vol 52, Iss 1, Pp 23-27 (2020)

Abstract Background CLN3 disease is a disorder of lysosomal homeostasis predominantly affecting the retina and the brain. The severity of the underlying mutations in CLN3 particularly determines onset and course of neurological deterioration. Given t

Externí odkaz: https://doaj.org/article/87a79db761e1468a92c17fa1c3ad9820

All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience

Autor: Brigitte H. W. Faas, Dineke Westra, Sonja A. de Munnik, Maartje van Rij, Carlo Marcelis, Sara Joosten, Ingrid Krapels, Vivian Vernimmen, Malou Heijligers, Marjolein H. Willemsen, Nicole de Leeuw, Tuula Rinne, Rolph Pfundt, Sanne P. Smeekens, Sander P. A. Stegmann, Merryn Macville, Esther Sikkel, Audrey Coumans, Lia Wijnberger, Irma Derks, Josefa van Lent‐Albrechts, Tom Hofste, Raoul Timmermans, Janneke van den End, Servi J. C. Stevens, Ilse Feenstra

Publikováno v: Prenatal Diagnosis, 43, 4, pp. 527-543

Item does not contain fulltext OBJECTIVE: We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff20fc016efd9f79192f4c93948282e7
https://doi.org/10.1002/pd.6314