Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis

by Julie van der Zee, Lubina Dillen, Yalda Baradaran-Heravi, Helena Gossye, Cemile Koçoğlu, Ivy Cuyt, Bart Dermaut, Anne Sieben, Jonathan Baets, Peter De Jonghe, Rik Vandenberghe, Peter De Deyn, Patrick Cras, Sebastiaan Engelborghs, Christine Van Broeckhoven
Published 2021-08-01

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

by Andreas Traschütz, Andreas Traschütz, Selina Reich, Selina Reich, Astrid D. Adarmes, Astrid D. Adarmes, Mathieu Anheim, Mathieu Anheim, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, Jonathan Baets, Jonathan Baets, A. Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A. Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Peter de Jonghe, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Thomas Klopstock, Thomas Klopstock, Martina Minnerop, Martina Minnerop, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Mathilde Renaud, Richard H. Roxburgh, Richard H. Roxburgh, Filippo M. Santorelli, Tommaso Schirinzi, Tommaso Schirinzi, Deborah A. Sival, Dagmar Timmann, Stefan Vielhaber, Stefan Vielhaber, Stefan Vielhaber, Michael Wallner, Bart P. van de Warrenburg, Ginevra Zanni, Stephan Zuchner, Thomas Klockgether, Thomas Klockgether, Rebecca Schüle, Rebecca Schüle, Ludger Schöls, Ludger Schöls, PREPARE Consortium, Matthis Synofzik, Matthis Synofzik
Published 2021-06-01

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

by Catherine Koch, Suzie Buono, Alexia Menuet, Anne Robé, Sarah Djeddi, Christine Kretz, Raquel Gomez-Oca, Marion Depla, Arnaud Monseur, Leen Thielemans, Laurent Servais, Jocelyn Laporte, Belinda S. Cowling, Mélanie Annoussamy, Andreea Seferian, Jonathan Baets, Nicole Voermans, Antony Behin, U. Schara, Adele D’Amico, Arturo Hernandez, Capucine de Lattre, Jean-Michel Arnal, Michèle Mayer, Jean-Marie Cuisset, Carole Vuillerot, Stéphanie Fontaine, Rémy Bellance
Published 2020-06-01

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

by Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
Published 2017-02-01

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb...

by Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub
Published 2018-07-01