Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives

por Synofzik, Matthis, van Roon-Mom, Willeke M.C, Marckmann, Georg, van Duyvenvoorde, Hermine A., Graessner, Holm, Schüle, Rebecca, Aartsma-Rus, Annemieke
Publicado 2022

Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year’s Journey

por ten Dam, L., de Visser, M., Ginjaar, Ieke B., van Duyvenvoorde, Hermine A., van Koningsbruggen, Silvana, van der Kooi, Anneke J.
Publicado 2021

The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience

por Aartsma-Rus, Annemieke, De Waele, Liesbeth, Houwen-Opstal, Saskia, Kirschner, Janbernd, Krom, Yvonne D., Mercuri, Eugenio, Niks, Erik H., Straub, Volker, van Duyvenvoorde, Hermine A., Vroom, Elizabeth
Publicado 2023

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes

por Weiss, Birgit, Eberle, Birgit, Roeth, Ralph, de Bruin, Christiaan, Lui, Julian C., Paramasivam, Nagarajan, Hinderhofer, Katrin, van Duyvenvoorde, Hermine A., Baron, Jeffrey, Wit, Jan M., Rappold, Gudrun A.
Publicado 2021

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature

por Lauffer, Peter, Miranda-Laferte, Erick, van Duyvenvoorde, Hermine A, van Haeringen, Arie, Werner, Franziska, Boudin, Eveline, Schmidt, Hannes, Mueller, Thomas D, Kuhn, Michaela, van der Kaay, Daniëlle C M
Publicado 2020

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

por Berntsson, Shala Ghaderi, Matsson, Hans, Kristoffersson, Anna, Niemelä, Valter, van Duyvenvoorde, Hermine A., Richel-van Assenbergh, Cindy, van der Klift, Heleen M., Casar-Borota, Olivera, Frykholm, Carina, Landtblom, Anne-Marie
Publicado 2023

The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands

por Koeks, Zaıda, Hellebrekers, Danique M.J., van de Velde, Nienke M., Alleman, Iris, Spitali, Pietro, van Duyvenvoorde, Hermine A., Verschuuren, Jan J.G.M., Hendriksen, Jos G.M., Niks, Erik H.
Publicado 2022

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

por Lauffer, Peter, Boudin, Eveline, van der Kaay, Daniëlle C M, Koene, Saskia, van Haeringen, Arie, van Tellingen, Vera, Van Hul, Wim, Prickett, Timothy C R, Mortier, Geert, Espiner, Eric A, van Duyvenvoorde, Hermine A
Publicado 2022

A bone overgrowth disorder due to a gain-of-function mutation in the kinase homology domain of guanylyl cyclase B, the receptor for CNP

por Kuhn, Michaela, Premsler, Thomas, Yang, Ruey-Bing, Mueller, Thomas D, Gaßner, Birgit, Oberwinkler, Heike, Hannema, Sabine E, van Duyvenvoorde, Hermine A, Roelfsema, Ferdinand, Santen, Gijs WE, Prickett, Timothy, Kant, Sarina G, Verkerk, Annemieke JMH, Uitterlinden, André G, Espiner, Eric, Ruivenkamp, Claudia AL, Oostdijk, Wilma, Pereira, Alberto M, Losekoot, Monique, Wit, Jan M
Publicado 2013

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

por Koopmann, Tamara T., Jamshidi, Yalda, Naghibi-Sistani, Mohammad, van der Klift, Heleen M., Birjandi, Hassan, Al-Hassnan, Zuhair, Alwadai, Abdullah, Zifarelli, Giovanni, Karimiani, Ehsan G., Sedighzadeh, Sahar, Bahreini, Amir, Nouri, Nayereh, Peter, Merlene, Watanabe, Kyoko, van Duyvenvoorde, Hermine A., Ruivenkamp, Claudia A. L., Teunissen, Aalbertine K. K., Ten Harkel, Arend D. J., van Duinen, Sjoerd G., Haak, Monique C., Prada, Carlos E., Santen, Gijs W. E., Maroofian, Reza
Publicado 2022