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Displaying 2 results.
    • Journal article
    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-girdle muscle weakness
    Johnson, Katherine Bertoli, Marta Phillips, Lauren Töpf, Ana Van den Bergh, Peter[UCL] Vissing, John Witting, Nanna Nafissi, Shahriar Jamal-Omidi, Shirin Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Anna Deconinck, Nicolas Wallgren-Pettersson, Carina Strang-Karlsson, Sonja Colomer, Jaume Claeys, Kristl G. De Ridder, Willem Baets, Jonathan von der Hagen, Maja Fernández-Torrón, Roberto Zulaica Ijurco, Miren Espinal Valencia, Juan Bautista Hahn, Andreas Durmus, Hacer Willis, Tracey Xu, Liwen Valkanas, Elise Mullen, Thomas E. Lek, Monkol MacArthur, Daniel G. Straub, Volker (2018) Skeletal Muscle — Vol. 8, no. 1, p. 23 [1-12] (2018)
    • Journal article
    Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.
    Smeets, Nathalie Gheldof, Alexander Dequeker, Bart Poleur, Margaux Maldonado Slootjes, Sofia[UCL] Van Parys, Vinciane[UCL] Deconinck, Nicolas Dontaine, Pauline Alonso-Jimenez, Alicia De Bleecker, Jan De Ridder, Willem Herdewyn, Sarah Paquay, Stéphanie[UCL] Vanlander, Arnaud De Waele, Liesbeth Peirens, Geertrui Beysen, Diane Claeys, Kristl G Dubuisson, Nicolas Hansen, Isabelle Remiche, Gauthier Seneca, Sara Bissay, Véronique Régal, Luc (2024) Pediatric neurology — Vol. 158, p. 57-65 (2024)