Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

por Herdewyn, Sarah, Zhao, Hui, Moisse, Matthieu, Race, Valérie, Matthijs, Gert, Reumers, Joke, Kusters, Benno, Schelhaas, Helenius J., van den Berg, Leonard H., Goris, An, Robberecht, Wim, Lambrechts, Diether, Van Damme, Philip
Publicado 2012

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

por Vermeer, Sascha, Meijer, Rowdy P. P., Pijl, Benjamin J., Timmermans, Janneke, Cruysberg, Johannes R. M., Bos, Maaike M., Schelhaas, Helenius J., van de Warrenburg, Bart. P. C., Knoers, Nine V. A. M., Scheffer, Hans, Kremer, Berry
Publicado 2008

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

por Vermeer, Sascha, Meijer, Rowdy P. P., Pijl, Benjamin J., Timmermans, Janneke, Cruysberg, Johannes R. M., Bos, Maaike M., Schelhaas, Helenius J., van de Warrenburg, Bart. P. C., Knoers, Nine V. A. M., Scheffer, Hans, Kremer, Berry
Publicado 2008

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

por van Blitterswijk, Marka, Vlam, Lotte, van Es, Michael A., van der Pol, W-Ludo, Hennekam, Eric A. M., Dooijes, Dennis, Schelhaas, Helenius J., van der Kooi, Anneke J., de Visser, Marianne, Veldink, Jan H., van den Berg, Leonard H.
Publicado 2012

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes

por van Hugte, Eline J H, Lewerissa, Elly I, Wu, Ka Man, Scheefhals, Nicky, Parodi, Giulia, van Voorst, Torben W, Puvogel, Sofia, Kogo, Naoki, Keller, Jason M, Frega, Monica, Schubert, Dirk, Schelhaas, Helenius J, Verhoeven, Judith, Majoie, Marian, van Bokhoven, Hans, Nadif Kasri, Nael
Publicado 2023

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

por Knaus, Alexej, Pantel, Jean Tori, Pendziwiat, Manuela, Hajjir, Nurulhuda, Zhao, Max, Hsieh, Tzung-Chien, Schubach, Max, Gurovich, Yaron, Fleischer, Nicole, Jäger, Marten, Köhler, Sebastian, Muhle, Hiltrud, Korff, Christian, Møller, Rikke S., Bayat, Allan, Calvas, Patrick, Chassaing, Nicolas, Warren, Hannah, Skinner, Steven, Louie, Raymond, Evers, Christina, Bohn, Marc, Christen, Hans-Jürgen, van den Born, Myrthe, Obersztyn, Ewa, Charzewska, Agnieszka, Endziniene, Milda, Kortüm, Fanny, Brown, Natasha, Robinson, Peter N., Schelhaas, Helenius J., Weber, Yvonne, Helbig, Ingo, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.
Publicado 2018