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- 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
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive Nemaline myopathy
Lehtokari, Vilma-Lotta Pelin, Katarina Sandbacka, Maria Ranta, Salla Donner, Kati Muntoni, Francesco Sewry, Caroline Angelini, Corrado Bushby, Kate Van den Bergh, Peter[UCL] Iannaccone, Susan Laing, Nigel G. Wallgren-Pettersson, Carina (2006) Human Mutation — Vol. 27, no. 9, p. 946-56 (2006)