Items where Author is "Jungbluth, H."

2016

Scalco, R. S. and Snoeck, M. and Quinlivan, R. and Treves, S. and Laforet, P. and Jungbluth, H. and Voermans, N. C.. (2016) Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? BMJ Open Sport Exerc Med, 2 (1). e000151.

2015

Kraeva, N. and Heytens, L. and Jungbluth, H. and Treves, S. and Voermans, N. and Kamsteeg, C. and Ceuterick-de Groote, C. and Baets, J. and Riaz, S.. (2015) Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. Neuromuscular Disorders, 25 (7). pp. 567-576.

Snoek, M. and van Engelen, B. G. M. and Küsters, B. and Lammens, M. and Meijer, R. and Molenaar, J. P. F. and Raaphorst, J. and Verschuuren-Bemelmans, C. C. and Straathof, C. S. M. and Sie, L. T. L. and de Coo, I. F. and van der Pol, W. L. and de Visser, M. and Scheffer, H. and Treves, S. and Jungbluth, H. and Voermans, N. and Kamsteef, E.-J.. (2015) RYR1‐related myopathies: a wide spectrum of phenotypes throughout life. European Journal of Neurology, 22 (7). pp. 1094-1112.

2013

Zhou, H. and Rokach, O. and Feng, L. and Munteanu, I. and Mamchaoui, K. and Wilmshurst, J. M. and Sewry, C. and Manzur, A. Y. and Pillay, K. and Mouly, V. and Duchen, M. and Jungbluth, H. and Treves, S. and Muntoni, F.. (2013) RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling. Human Mutation, 34 (7). pp. 986-996.

2011

Treves, S. and Vukcevic, M. and Jeannet, P. Y. and Levano, S. and Girard, T. and Urwyler, A. and Fischer, D. and Voit, T. and Jungbluth, H. and Lillis, S. and Muntoni, F. and Quinlivan, R. and Sarkozy, A. and Bushby, K. and Zorzato, F.. (2011) Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Human Molecular Genetics, 20 (3). pp. 589-600.