1. Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. (30th January 2018) Authors: Matthews, Emma; Neuwirth, Christoph; Jaffer, Fatima; Scalco, Renata S.; Fialho, Doreen; Parton, Matt; Raja Rayan, Dipa; Suetterlin, Karen; Sud, Richa; Spiegel, Roland; Mein, Rachel; Houlden, Henry; Schaefer, Andrew; Healy, Estelle; Palace, Jacqueline; Quinlivan, Ros; Treves, Susan; Holton, Janice... Journal: Neurology Issue: Volume 90:Number 5(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family. Issue 3 (March 2021) Authors: Mihaylova, Violeta; Chablais, Fabian; Bremer, Juliane; Guggenberger, Roman; Rushing, Elisabeth J.; Bethge, Tobias; Spiegel, Roland; Jung, Hans-Heinrich Journal: Journal of clinical neuromuscular disease Issue: Volume 22:Issue 3(2021:Mar.) Page Start: 173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient. (August 2020) Authors: Mihaylova, Violeta; Chablais, Fabian; Herenger, Yvan; Spiegel, Roland; Heinrich Jung, Hans Journal: Neurology Issue: Volume 6:Number 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗